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Sample records for human focal epilepsy

  1. The Piriform Cortex and Human Focal Epilepsy

    Directory of Open Access Journals (Sweden)

    David eVaughan

    2014-12-01

    Full Text Available It is surprising that the piriform cortex, when compared to the hippocampus, has been given relatively little significance in human epilepsy. Like the hippocampus, it has a phylogenetically preserved three-layered cortex that is vulnerable to excitotoxic injury, has broad connections to both limbic and cortical areas, and is highly epileptogenic - being critical to the kindling process. The well-known phenomenon of early olfactory auras in temporal lobe epilepsy highlights its clinical relevance in humans. Perhaps because it is anatomically indistinct and difficult to approach surgically, as it clasps the middle cerebral artery, it has, until now, been understandably neglected. In this review we emphasize how its unique anatomical and functional properties, as primary olfactory cortex, predispose it to involvement in focal epilepsy. From recent convergent findings in human neuroimaging, clinical epileptology and experimental animal models, we make the case that the piriform cortex is likely to play a facilitating and amplifying role in human focal epileptogenesis, and may influence progression to epileptic intractability.

  2. The piriform cortex and human focal epilepsy.

    Science.gov (United States)

    Vaughan, David N; Jackson, Graeme D

    2014-01-01

    It is surprising that the piriform cortex, when compared to the hippocampus, has been given relatively little significance in human epilepsy. Like the hippocampus, it has a phylogenetically preserved three-layered cortex that is vulnerable to excitotoxic injury, has broad connections to both limbic and cortical areas, and is highly epileptogenic - being critical to the kindling process. The well-known phenomenon of early olfactory auras in temporal lobe epilepsy highlights its clinical relevance in human beings. Perhaps because it is anatomically indistinct and difficult to approach surgically, as it clasps the middle cerebral artery, it has, until now, been understandably neglected. In this review, we emphasize how its unique anatomical and functional properties, as primary olfactory cortex, predispose it to involvement in focal epilepsy. From recent convergent findings in human neuroimaging, clinical epileptology, and experimental animal models, we make the case that the piriform cortex is likely to play a facilitating and amplifying role in human focal epileptogenesis, and may influence progression to epileptic intractability.

  3. SPECT in Focal Epilepsies

    Directory of Open Access Journals (Sweden)

    Roderick Duncan

    2000-01-01

    Full Text Available Brain perfusion changes during seizures were first observed in the 1930s. Single Photon Emission Computed Tomography (SPECT was developed in the 1970s, and tracers suitable for the imaging of regional cerebral perfusion (rCP became available in the 1980s. The method was first used to study rCP in the interictal phase, and this showed areas of low perfusion in a proportion of cases, mainly in patients with temporal lobe epilepsies. However, the trapping paradigm of tracers such as hexamethyl propyleneamine oxime (HMPAO provided a practicable method of studying changes in rCP during seizures, and a literature was established in the late 1980s and early 1990s showing a typical sequence of changes during and after seizures of mesial temporal lobe origin; the ictal phase was associated with large increases in perfusion throughout the temporal lobe, with first the lateral, then the mesial temporal lobe becoming hypoperfused in the postictal phase. Activation and inhibition of other structures, such as the basal ganglia and frontal cortex, were also seen. Studies of seizures originating elsewhere in the brain have shown a variety of patterns of change, according to the structures involved. These changes have been used practically to aid the process of localisation of the epileptogenic zone so that epilepsy surgery can be planned.

  4. Focal epilepsy in the Belgian shepherd

    DEFF Research Database (Denmark)

    Berendt, Mette; Gulløv, Christina Hedal; Fredholm, Merete

    2009-01-01

    OBJECTIVES: To establish the mode of inheritance and describe the clinical features of epilepsy in the Belgian shepherd, taking the outset in an extended Danish dog family (199 individuals) of Groenendael and Tervueren with accumulated epilepsy. METHODS: Epilepsy positive individuals (living...... and deceased) were ascertained through a telephone interview using a standardised questionnaire regarding seizure history and phenomenology. Living dogs were invited to a detailed clinical evaluation. Litters more than five years of age, or where epilepsy was present in all offspring before the age of five......, were included in the calculations of inheritance. results: Out of 199 family members, 66 dogs suffered from epilepsy. The prevalence of epilepsy in the family was 33%. Fifty-five dogs experienced focal seizures with or without secondary generalisation, while four dogs experienced primary generalised...

  5. Parietal lobe epilepsy: the great imitator among focal epilepsies.

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    Ristić, Aleksandar J; Alexopoulos, Andreas V; So, Norman; Wong, Chong; Najm, Imad M

    2012-03-01

    Comprising large areas of association cortex, the parietal lobe is part of an extensive synaptic network elaborately intertwined with other brain regions. We hypothesize that such widespread projections are responsible for producing inaccurate localisation readings on scalp EEG and clinical semiology in patients with parietal lobe epilepsies, as opposed to frontal or temporal lobe epilepsies. Our study included 50 patients with pharmacoresistant focal epilepsy, who were subsequently rendered seizure-free for ≥12 months (median: 23 months) following resections limited to the frontal (n=17), temporal (n=17), or parietal (n=16) lobes. Interictal and ictal EEG data with accompanying seizure video recordings were extracted from archived files of scalp video-EEG monitoring. Two blinded raters independently reviewed the EEG according to predetermined criteria. Videos of seizures were then observed, as raters formulated their final electroclinical impression (ECI), identifying patients' abnormal neuronal activities with parietal, temporal, and frontal lobe epilepsy, or unspecified localisation. Groups did not differ significantly in demographics, age at epilepsy onset, or presence of MRI abnormalities. Interictal discharges in parietal lobe epilepsy showed the greatest magnitude of scatter outside the lobe of origin; the majority of patients with parietal lobe epilepsy had more than one spike population (pparietal lobe epilepsy cases (p=0.024). Whenever raters confidently limited their ECI to one lobar subtype, overall accuracy was excellent. Lobar classifications by ECI were highly accurate for temporal lobe epilepsy, vacillating in frontal lobe epilepsy, and least accurate in parietal lobe epilepsy subjects. Scalp EEG readings of parietal lobe epilepsy patients showed a more variable scatter of interictal discharges and a lower localisation value of ictal recordings compared to temporal and frontal lobe epilepsy subjects, suggesting an increased likelihood of

  6. [Generalized or focal photosensitive epilepsies].

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    Parain, D

    1998-11-01

    Photosensitivity is defined by a pattern of occipital or more diffuse spikes and waves. Several techniques are needed for exploration: intermittent light stimulation (ILS), patterns, TV-screen, video games. Photosensitivity is a genetic characteristic. Only diffuse spikes and waves induced by ILS are correlated with epilepsy. Pure photogenic epilepsy is characterized by seizures induced by visual stimuli alone, usually by TV-screen. Video games may also have a triggering effect due to the slow-moving patterns or intense brightness. Several epileptic syndromes are associated with photosensitivity with or without visually-induced seizures. These syndromes are most often generalized and idiopathic.

  7. Ketogenic Diet for Epilepsy and Focal Malformation

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    J Gordon Millichap

    2008-09-01

    Full Text Available The efficacy and long-term treatment outcome of a classic ketogenic diet (KD addon treatment (4:1 lipid/nonlipid ratio, without initial fasting and fluid restriction were evaluated retrospectively in 47 children with intractable epilepsy and focal malformation of cortical development, in a study at Severance Children’s and Sanggye Park Hospitals, Seoul, Korea.

  8. Idiopathic focal epilepsies: the "lost tribe".

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    Pal, Deb K; Ferrie, Colin; Addis, Laura; Akiyama, Tomoyuki; Capovilla, Giuseppe; Caraballo, Roberto; de Saint-Martin, Anne; Fejerman, Natalio; Guerrini, Renzo; Hamandi, Khalid; Helbig, Ingo; Ioannides, Andreas A; Kobayashi, Katsuhiro; Lal, Dennis; Lesca, Gaetan; Muhle, Hiltrud; Neubauer, Bernd A; Pisano, Tiziana; Rudolf, Gabrielle; Seegmuller, Caroline; Shibata, Takashi; Smith, Anna; Striano, Pasquale; Strug, Lisa J; Szepetowski, Pierre; Valeta, Thalia; Yoshinaga, Harumi; Koutroumanidis, Michalis

    2016-09-01

    The term idiopathic focal epilepsies of childhood (IFE) is not formally recognised by the ILAE in its 2010 revision (Berg et al., 2010), nor are its members and boundaries precisely delineated. The IFEs are amongst the most commonly encountered epilepsy syndromes affecting children. They are fascinating disorders that hold many "treats" for both clinicians and researchers. For example, the IFEs pose many of the most interesting questions central to epileptology: how are functional brain networks involved in the manifestation of epilepsy? What are the shared mechanisms of comorbidity between epilepsy and neurodevelopmental disorders? How do focal EEG discharges impact cognitive functioning? What explains the age-related expression of these syndromes? Why are EEG discharges and seizures so tightly locked to slow-wave sleep? In the last few decades, the clinical symptomatology and the respective courses of many IFEs have been described, although they are still not widely appreciated beyond the specialist community. Most neurologists would recognise the core syndromes of IFE to comprise: benign epilepsy of childhood with centro-temporal spikes or Rolandic epilepsy (BECTS/RE); Panayiotopoulos syndrome; and the idiopathic occipital epilepsies (Gastaut and photosensitive types). The Landau-Kleffner syndrome and the related (idiopathic) epilepsy with continuous spikes and waves in sleep (CSWS or ESES) are also often included, both as a consequence of the shared morphology of the interictal discharges and their potential evolution from core syndromes, for example, CSWS from BECTS. Atypical benign focal epilepsy of childhood also has shared electro-clinical features warranting inclusion. In addition, a number of less well-defined syndromes of IFE have been proposed, including benign childhood seizures with affective symptoms, benign childhood epilepsy with parietal spikes, benign childhood seizures with frontal or midline spikes, and benign focal seizures of adolescence. The

  9. Focal epilepsies in adult patients attending two epilepsy centers

    DEFF Research Database (Denmark)

    Gilioli, Isabella; Vignoli, Aglaia; Visani, Elisa

    2012-01-01

    consecutively after 1990 and followed regularly at two epilepsy centers. We systematically collected the clinical, diagnostic, and therapeutic data using a custom-written database. We classified the patients as seizure-free or AED resistant according to the International League Against Epilepsy (ILAE) criteria.......8% of the 729 patients with symptomatic focal epilepsies and was positively associated with electroencephalography (EEG) abnormalities, seizure type, and the presence of mesial temporal sclerosis. Among 426 patients without detectable causes, the percentage of AED resistance was significantly lower (39...... control (14.9% needed three or more AEDs). Furthermore, among seizure-free patients who could be previously classified as resistant to two or more AEDs, 52.2% reached seizure freedom while receiving treatment with "new generation" AEDs. SIGNIFICANCE: The ILAE classification of AED resistance, as well...

  10. White matter integrity and cerebral network topology in focal epilepsy

    OpenAIRE

    Otte, W.M.

    2012-01-01

    Worldwide more than fifty million people suffer from recurrent spontaneous seizures. Seizures are considered to be harmful to the brain and may have adverse long-term behavioral and cognitive consequences in particular in people with focal epilepsies that do not respond to pharmacotherapy. Characterization of seizure related brain damage may provide knowledge to better comprehend the mechanisms underlying the poorly understood comorbidities often encountered in patients with focal epilepsy. I...

  11. Focal epilepsy with ictal abdominal pain: a case report.

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    Cerminara, Caterina; El Malhany, Nadia; Roberto, Denis; Curatolo, Paolo

    2013-12-09

    Focal epilepsy with ictal abdominal pain is an unusual partial epilepsy characterized by paroxysmal episodes of abdominal or visceral pain, disturbance of awareness and electroencephalographic abnormalities. We describe a new case of ictal abdominal pain in which gastrointestinal complaints were the only manifestation of seizures and review the previously described pediatric patients. In our patient clinical findings, ictal EEG abnormalities, and a good response to antiepileptic drugs allowed us to make a diagnosis of focal epilepsy with ictal abdominal pain. This is a rare epileptic phenomenon that should be suspected in patients with unexplained paroxysmal abdominal pain and migraine-like symptoms. We suggest that, after the exclusion of more common etiologies, focal epilepsy with ictal abdominal pain should be considered in patients with paroxysmal abdominal pain and ictal EEG abnormalities.

  12. Slow Activity in Focal Epilepsy During Sleep and Wakefulness

    DEFF Research Database (Denmark)

    Pellegrino, Giovanni; Tombini, Mario; Curcio, Giuseppe

    2017-01-01

    Introduction We aimed to test differences between healthy subjects and patients with respect to slow wave activity during wakefulness and sleep. Methods Fifteen patients affected by nonlesional focal epilepsy originating within temporal areas and fourteen matched controls underwent a 24-hour EEG...... recording. We studied the EEG power spectral density during wakefulness and sleep in delta (1-4 Hz), theta (5-7 Hz), alpha (8-11 Hz), sigma (12-15 Hz), and beta (16-20 Hz) bands. Results During sleep, patients with focal epilepsy showed higher power from delta to beta frequency bands compared with controls...... was the delta band during the first 2 sleep cycles (sleep cycle 1, P = .014; sleep cycle 2, P = .002). During wakefulness, patients showed higher delta/theta activity over the affected regions compared with controls. Conclusions Patients with focal epilepsy showed a pattern of power increases characterized...

  13. Investigational new drugs for focal epilepsy.

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    Mula, Marco

    2016-01-01

    For more than 30 years, antiepileptic drug development has been based on specific assumptions regarding the neurobiology of epilepsy but all marketed drugs have not changed the proportion of drug refractory patients. It is, therefore, evident that new molecular targets need to be identified. Advances in neurobiology and molecular pharmacology are bringing into the epilepsy field new neurochemical functions such as those modulated by cannabinoid, serotonin, melatonin and galanin receptors. Among all the different compounds, the melatonin type 3 receptor agonist beprodone and cannabidiol are those at the more advanced stage of development. Interestingly, despite the structural analogies with tetrahydrocannabinol, the anticonvulsant activity of cannabidiol is not mediated by an interaction with cannabinoid receptors. Neurosteroids represent another remarkable class of drugs, and among them, ganaxolone is at the most advanced stage of development. Furthermore, for the first time, potential disease-modifying agents and techniques are entering the epilepsy market. Rapalogues such as everolimus and the antibiotic minocycline are currently under development for specific epileptic syndromes like tuberous sclerosis or Angelman syndrome. Finally, optogenetics, though still at an early stage of development, represents a futuristic therapeutic strategy for drug-refractory epilepsy.

  14. Mutations in KCNT1 cause a spectrum of focal epilepsies

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    Møller, Rikke Steensbjerre; Heron, Sarah E.; Larsen, Line H. G.

    2015-01-01

    Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated w...

  15. Mutations in KCNT1 cause a spectrum of focal epilepsies

    NARCIS (Netherlands)

    Møller, Rikke S.; Heron, Sarah E.; Larsen, Line H G; Lim, Chiao Xin; Ricos, Michael G.; Bayly, Marta A.; Van Kempen, Marjan J A; Klinkenberg, Sylvia; Andrews, Ian; Kelley, Kent; Ronen, Gabriel M.; Callen, David; McMahon, Jacinta M.; Yendle, Simone C.; Carvill, Gemma L.; Mefford, Heather C.; Nabbout, Rima; Poduri, Annapurna; Striano, Pasquale; Baglietto, Maria G.; Zara, Federico; Smith, Nicholas J.; Pridmore, Clair; Gardella, Elena; Nikanorova, Marina; Dahl, Hans Atli; Gellert, Pia; Scheffer, Ingrid E.; Gunning, Boudewijn; Kragh-Olsen, Bente; Dibbens, Leanne M.

    2015-01-01

    Summary Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associa

  16. Regional cerebral blood flow in focal cortical epilepsy

    DEFF Research Database (Denmark)

    Hougaard, Kristina Dupont; Oikawa, T; Sveinsdottir, E

    1976-01-01

    Regional cerebral blood flow (rCBF) was studied in ten patients with focal cortical epilepsy. The blood flow was measured by the intra-arterial injection of xenon 133 (133Xe), and the isotope clearance was recorded by a multidetector scintillation camera with 254 detectors. Three patients were st...

  17. Mutations in GRIN2A> cause idiopathic focal epilepsy with rolandic spikes

    DEFF Research Database (Denmark)

    Lemke, Johannes R; Lal, Dennis; Reinthaler, Eva M

    2013-01-01

    Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy, comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with centrotemporal spikes, BECTS) to atypical benign partial epilepsy (ABPE), Landau-Kleffner syndrome (LKS) and epileptic enc...

  18. Regional cerebral blood flow in focal cortical epilepsy

    DEFF Research Database (Denmark)

    Hougaard, Kristina Dupont; Oikawa, T; Sveinsdottir, E

    1976-01-01

    Regional cerebral blood flow (rCBF) was studied in ten patients with focal cortical epilepsy. The blood flow was measured by the intra-arterial injection of xenon 133 (133Xe), and the isotope clearance was recorded by a multidetector scintillation camera with 254 detectors. Three patients were....... This finding accords with earlier studies. All nine patients studied in the interictal phase showed, either spontaneously or during activation by intermittent light, focal flow increases in areas presumed to comprise the epileptic focus. These interictal hyperemic foci probably reflect subictal neuronal...

  19. Optimized methods for epilepsy therapy development using an etiologically realistic model of focal epilepsy in the rat.

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    Eastman, Clifford L; Fender, Jason S; Temkin, Nancy R; D'Ambrosio, Raimondo

    2015-02-01

    Conventionally developed antiseizure drugs fail to control epileptic seizures in about 30% of patients, and no treatment prevents epilepsy. New etiologically realistic, syndrome-specific epilepsy models are expected to identify better treatments by capturing currently unknown ictogenic and epileptogenic mechanisms that operate in the corresponding patient populations. Additionally, the use of electrocorticography permits better monitoring of epileptogenesis and the full spectrum of acquired seizures, including focal nonconvulsive seizures that are typically difficult to treat in humans. Thus, the combined use of etiologically realistic models and electrocorticography may improve our understanding of the genesis and progression of epilepsy, and facilitate discovery and translation of novel treatments. However, this approach is labor intensive and must be optimized. To this end, we used an etiologically realistic rat model of posttraumatic epilepsy, in which the initiating fluid percussion injury closely replicates contusive closed-head injury in humans, and has been adapted to maximize epileptogenesis and focal non-convulsive seizures. We obtained week-long 5-electrode electrocorticography 1 month post-injury, and used a Monte-Carlo-based non-parametric bootstrap strategy to test the impact of electrode montage design, duration-based seizure definitions, group size and duration of recordings on the assessment of posttraumatic epilepsy, and on statistical power to detect antiseizure and antiepileptogenic treatment effects. We found that use of seizure definition based on clinical criteria rather than event duration, and of recording montages closely sampling the activity of epileptic foci, maximize the power to detect treatment effects. Detection of treatment effects was marginally improved by prolonged recording, and 24h recording epochs were sufficient to provide 80% power to detect clinically interesting seizure control or prevention of seizures with small groups

  20. Functional connectivity and complex networks in focal epilepsy. Pathophysiology and therapeutic implications

    National Research Council Canada - National Science Library

    Pastor, Jesús; Sola, Rafael G; Vega-Zelaya, Lorena; Garnes, Óscar; Ortega, Guillermo J

    2014-01-01

    ...-resistant focal epilepsy. In order to fully understand the new developments in the area of complex networks and its applications to the study of epilepsy, we will here review fundamental concepts in complex...

  1. The semiology of benign focal epilepsy with affective symptoms.

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    Nascimento, Fábio A; Sotero de Menezes, Márcio A; Simão, Cristiane A; Takeshita, Bruno T; Blattes da Rocha, Samanta F; Kowacs, Pedro A

    2017-06-01

    Benign focal epilepsy with affective symptoms (BFEAS) is a rare childhood epilepsy syndrome essentially characterized by "epileptic attacks with affective symptoms of a terrifying type". Since the original description, approximately 50 cases have been reported. To our knowledge, however, none of the studies included video-EEG data. Herein, we detail the electroclinical features of a neurodevelopmentally normal 9-year-old boy with epilepsy since the age of 2 years. His seizure semiology essentially consisted of nocturnal focal seizures featuring abrupt fear and autonomic phenomena (such as excessive sweating, repeated swallowing, and coughing), associated with impaired consciousness. These seizures were often secondary generalized, and he had multiple episodes of convulsive status epilepticus. He has been seizure-free for the past year and a half on dual antiepileptic therapy with sulthiamine and valproate. His intellectual and social abilities are excellent (IQ of 116), although he does have difficulties particularly in language learning, and was recently diagnosed with phonological dyslexia with dysorthography. By presenting our patient's history and video-EEG, we intend to further detail the semiology of seizures with affective symptomatology. [Published with video sequence on www.epilepticdisorders.com].

  2. Lacosamide: A Review in Focal Seizures in Patients with Epilepsy.

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    Scott, Lesley J

    2015-12-01

    Lacosamide (Vimpat(®)) is a functionalized amino acid available orally (as a solution or tablets) and as an intravenous infusion for use as monotherapy (only in the USA) or adjunctive therapy for the treatment of focal seizures in adult and adolescent (aged ≥17 years in the USA) patients with epilepsy. As adjunctive therapy to other antiepileptic drugs (AEDs), lacosamide provided effective seizure control and was generally well tolerated in adults and adolescents (aged ≥16 years) in randomized clinical trials and in the real-world setting. In clinical trials, adjunctive lacosamide provided significantly greater reductions in 28-day seizure rates than adjunctive placebo, with these benefits maintained after up to 8 years of therapy in open-label extension studies. Moreover, patients were effectively switched from oral to short-term intravenous adjunctive therapy at the same dosage, which may be particularly beneficial in situations where oral therapy is not suitable. Conversion to lacosamide monotherapy was superior to a historical-control cohort in patients with focal seizures converting from previous AED therapy. In the absence of head-to-head comparisons with other AEDs, the exact position of lacosamide relative to other AEDs remains to be fully determined. In the meantime, oral and intravenous lacosamide provides a useful option as monotherapy (only in the USA) or adjunctive therapy for the treatment of focal seizures in adult and adolescent (aged ≥17 years in the USA) patients with epilepsy.

  3. Ictal headache: headache as first ictal symptom in focal epilepsy.

    Science.gov (United States)

    Dainese, Filippo; Mai, Roberto; Francione, Stefano; Mainardi, Federico; Zanchin, Giorgio; Paladin, Francesco

    2011-12-01

    Headache may be associated with seizures as a preictal, ictal, or postictal phenomenon, but it is often neglected because of the dramatic neurological manifestations of the seizure. Headache can also be the sole or predominant clinical manifestation of epileptic seizures, although this is a relatively rare condition. We describe two cases of focal symptomatic drug-resistant epilepsy with headache as the first ictal symptom. In both cases, the headache, which lasted a few seconds, was contralateral to the ictal discharge and did not have the clinical features of migraine. Ictal headache is a rare epilepsy symptom that can help to localize ictal EEG discharges. Recently, the term ictal epileptic headache has been proposed in cases in which headache is the sole ictal epileptic manifestation Diagnosis requires the simultaneous onset of headache with EEG-demonstrated ictal discharges.

  4. Transition issues for benign epilepsy with centrotemporal spikes, nonlesional focal epilepsy in otherwise normal children, childhood absence epilepsy, and juvenile myoclonic epilepsy.

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    Camfield, Carol S; Berg, Anne; Stephani, Ulrich; Wirrell, Elaine C

    2014-08-01

    This chapter covers the syndromes of benign epilepsy with centrotemporal spikes (BECTS), nonlesional focal epilepsy in otherwise normal children (NLFN), and the genetic generalized epilepsies. BECTS is an epilepsy syndrome that always enters terminal remission before the general age of a planned transition of adolescents. This is also the case for the majority (65%) of those with childhood absence epilepsy (CAE). Approximately 15% of patients with CAE who initially remit during their childhood years later develop juvenile myoclonic epilepsy (JME) as teenagers. They will have many issues for continuing medical care and transition, because their seizure disorder generally persists into adulthood. A significant minority of NLFN (~35%) and most patients with JME continue to have active epilepsy into adulthood. In addition, CAE, JME, and NLFN patients are at risk of a number of significant adverse social outcomes that require ongoing advice and counseling.

  5. Entropy analyses of spatiotemporal synchronizations in brain signals from patients with focal epilepsies

    CERN Document Server

    Tuncay, Caglar

    2010-01-01

    The electroencephalographic (EEG) data intracerebrally recorded from 20 epileptic humans with different brain origins of focal epilepsies or types of seizures, ages and sexes are investigated (nearly 700 million data). Multi channel univariate amplitude analyses are performed and it is shown that time dependent Shannon entropies can be used to predict focal epileptic seizure onsets in different epileptogenic brain zones of different patients. Formations or time evolutions of the synchronizations in the brain signals from epileptogenic or non epileptogenic areas of the patients in ictal interval or inter-ictal interval are further investigated employing spatial or temporal differences of the entropies.

  6. Asymmetry of planum temporale constrains interhemispheric language plasticity in children with focal epilepsy.

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    Pahs, Gerald; Rankin, Peter; Helen Cross, J; Croft, Louise; Northam, Gemma B; Liegeois, Frederique; Greenway, Sarah; Harrison, Sue; Vargha-Khadem, Faraneh; Baldeweg, Torsten

    2013-10-01

    Reorganization of eloquent cortex enables rescue of language functions in patients who sustain brain injury. Individuals with left-sided, early-onset focal epilepsy often show atypical (i.e. bilateral or right-sided) language dominance. Surprisingly, many patients fail to show such interhemispheric shift of language despite having major epileptogenic lesions in close proximity to eloquent cortex. Although a number of epilepsy-related factors may promote interhemispheric plasticity, it has remained unexplored if neuroanatomical asymmetries linked to human language dominance modify the likelihood of atypical lateralization. Here we examined the asymmetry of the planum temporale, one of the most striking asymmetries in the human brain, in relation to language lateralization in children with left-sided focal epilepsy. Language functional magnetic resonance imaging was performed in 51 children with focal epilepsy and left-sided lesions and 36 healthy control subjects. We examined the association of language laterality with a range of potential clinical predictors and the asymmetry of the length of the planum temporale. Using voxel-based methods, we sought to determine the effect of lesion location (in the affected left hemisphere) and grey matter density (in the unaffected right hemisphere) on language laterality. Atypical language lateralization was observed in 19 patients (38%) and in four controls (11%). Language laterality was increasingly right-sided in patients who showed atypical handedness, a left perisylvian ictal electroencephalographic focus, and a lesion in left anterior superior temporal or inferior frontal regions. Most striking was the relationship between rightward asymmetry of the planum temporale and atypical language (R = 0.70, P asymmetry in the control group. We conclude that asymmetry of the planum temporale may be unrelated to language lateralization in healthy individuals, but the size of the right, contra-lesional planum temporale region may

  7. Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project.

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    Tobochnik, Steven; Fahlstrom, Robyn; Shain, Catherine; Winawer, Melodie R

    2017-07-04

    To improve phenotype definition in genetic studies of epilepsy, we assessed the familial aggregation of focal seizure types and of specific seizure symptoms within the focal epilepsies in families from the Epilepsy Phenome/Genome Project. We studied 302 individuals with nonacquired focal epilepsy from 149 families. Familial aggregation was assessed by logistic regression analysis of relatives' traits (dependent variable) by probands' traits (independent variable), estimating the odds ratio for each symptom in a relative given presence vs absence of the symptom in the proband. In families containing multiple individuals with nonacquired focal epilepsy, we found significant evidence for familial aggregation of ictal motor, autonomic, psychic, and aphasic symptoms. Within these categories, ictal whole body posturing, diaphoresis, dyspnea, fear/anxiety, and déjà vu/jamais vu showed significant familial aggregation. Focal seizure type aggregated as well, including complex partial, simple partial, and secondarily generalized tonic-clonic seizures. Our results provide insight into genotype-phenotype correlation in the nonacquired focal epilepsies and a framework for identifying subgroups of patients likely to share susceptibility genes. © 2017 American Academy of Neurology.

  8. Global and regional functional connectivity maps of neural oscillations in focal epilepsy.

    Science.gov (United States)

    Englot, Dario J; Hinkley, Leighton B; Kort, Naomi S; Imber, Brandon S; Mizuiri, Danielle; Honma, Susanne M; Findlay, Anne M; Garrett, Coleman; Cheung, Paige L; Mantle, Mary; Tarapore, Phiroz E; Knowlton, Robert C; Chang, Edward F; Kirsch, Heidi E; Nagarajan, Srikantan S

    2015-08-01

    Intractable focal epilepsy is a devastating disorder with profound effects on cognition and quality of life. Epilepsy surgery can lead to seizure freedom in patients with focal epilepsy; however, sometimes it fails due to an incomplete delineation of the epileptogenic zone. Brain networks in epilepsy can be studied with resting-state functional connectivity analysis, yet previous investigations using functional magnetic resonance imaging or electrocorticography have produced inconsistent results. Magnetoencephalography allows non-invasive whole-brain recordings, and can be used to study both long-range network disturbances in focal epilepsy and regional connectivity at the epileptogenic zone. In magnetoencephalography recordings from presurgical epilepsy patients, we examined: (i) global functional connectivity maps in patients versus controls; and (ii) regional functional connectivity maps at the region of resection, compared to the homotopic non-epileptogenic region in the contralateral hemisphere. Sixty-one patients were studied, including 30 with mesial temporal lobe epilepsy and 31 with focal neocortical epilepsy. Compared with a group of 31 controls, patients with epilepsy had decreased resting-state functional connectivity in widespread regions, including perisylvian, posterior temporo-parietal, and orbitofrontal cortices (P regional connectivity within the resection site (n = 24) were more likely to achieve seizure postoperative seizure freedom (87.5% with Engel I outcome) than those with neutral (n = 15, 64.3% seizure free) or decreased (n = 23, 47.8% seizure free) regional connectivity (P < 0.02, chi-square). Widespread global decreases in functional connectivity are observed in patients with focal epilepsy, and may reflect deleterious long-term effects of recurrent seizures. Furthermore, enhanced regional functional connectivity at the area of resection may help predict seizure outcome and aid surgical planning.

  9. Abnormal Brain Areas Common to the Focal Epilepsies: Multivariate Pattern Analysis of fMRI.

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    Pedersen, Mangor; Curwood, Evan K; Vaughan, David N; Omidvarnia, Amir H; Jackson, Graeme D

    2016-04-01

    Individuals with focal epilepsy have heterogeneous sites of seizure origin. However, there may be brain regions that are common to most cases of intractable focal epilepsy. In this study, we aim to identify these using multivariate analysis of task-free functional MRI. Fourteen subjects with extratemporal focal epilepsy and 14 healthy controls were included in the study. Task-free functional MRI data were used to calculate voxel-wise regional connectivity with regional homogeneity (ReHo) and weighted degree centrality (DCw), in addition to regional activity using fraction of amplitude of low-frequency fluctuations (fALFF). Multivariate pattern analysis was applied to each of these metrics to discriminate brain areas that differed between focal epilepsy subjects and healthy controls. ReHo and DCw classified focal epilepsy subjects from healthy controls with high accuracy (89.3% and 75%, respectively). However, fALFF did not significantly classify patients from controls. Increased regional network activity in epilepsy subjects was seen in the ipsilateral piriform cortex, insula, and thalamus, in addition to the dorsal anterior cingulate cortex and lateral frontal cortices. Decreased regional connectivity was observed in the ventromedial prefrontal cortex, as well as lateral temporal cortices. Patients with extratemporal focal epilepsy have common areas of abnormality (ReHo and DCw measures), including the ipsilateral piriform cortex, temporal neocortex, and ventromedial prefrontal cortex. ReHo shows additional increase in the "salience network" that includes anterior insula and anterior cingulate cortex. DCw showed additional effects in the ipsilateral thalamus and striatum. These brain areas may represent key regional network properties underlying focal epilepsy.

  10. Global and regional functional connectivity maps of neural oscillations in focal epilepsy

    Science.gov (United States)

    Englot, Dario J.; Hinkley, Leighton B.; Kort, Naomi S.; Imber, Brandon S.; Mizuiri, Danielle; Honma, Susanne M.; Findlay, Anne M.; Garrett, Coleman; Cheung, Paige L.; Mantle, Mary; Tarapore, Phiroz E.; Knowlton, Robert C.; Chang, Edward F.; Nagarajan, Srikantan S.

    2015-01-01

    Intractable focal epilepsy is a devastating disorder with profound effects on cognition and quality of life. Epilepsy surgery can lead to seizure freedom in patients with focal epilepsy; however, sometimes it fails due to an incomplete delineation of the epileptogenic zone. Brain networks in epilepsy can be studied with resting-state functional connectivity analysis, yet previous investigations using functional magnetic resonance imaging or electrocorticography have produced inconsistent results. Magnetoencephalography allows non-invasive whole-brain recordings, and can be used to study both long-range network disturbances in focal epilepsy and regional connectivity at the epileptogenic zone. In magnetoencephalography recordings from presurgical epilepsy patients, we examined: (i) global functional connectivity maps in patients versus controls; and (ii) regional functional connectivity maps at the region of resection, compared to the homotopic non-epileptogenic region in the contralateral hemisphere. Sixty-one patients were studied, including 30 with mesial temporal lobe epilepsy and 31 with focal neocortical epilepsy. Compared with a group of 31 controls, patients with epilepsy had decreased resting-state functional connectivity in widespread regions, including perisylvian, posterior temporo-parietal, and orbitofrontal cortices (P epilepsy and higher frequency of consciousness-impairing seizures (P seizure postoperative seizure freedom (87.5% with Engel I outcome) than those with neutral (n = 15, 64.3% seizure free) or decreased (n = 23, 47.8% seizure free) regional connectivity (P epilepsy, and may reflect deleterious long-term effects of recurrent seizures. Furthermore, enhanced regional functional connectivity at the area of resection may help predict seizure outcome and aid surgical planning. PMID:25981965

  11. Increased segregation of brain networks in focal epilepsy: An fMRI graph theory finding.

    Science.gov (United States)

    Pedersen, Mangor; Omidvarnia, Amir H; Walz, Jennifer M; Jackson, Graeme D

    2015-01-01

    Focal epilepsy is conceived of as activating local areas of the brain as well as engaging regional brain networks. Graph theory represents a powerful quantitative framework for investigation of brain networks. Here we investigate whether functional network changes are present in extratemporal focal epilepsy. Task-free functional magnetic resonance imaging data from 15 subjects with extratemporal epilepsy and 26 age and gender matched healthy controls were used for analysis. Local network properties were calculated using local efficiency, clustering coefficient and modularity metrics. Global network properties were assessed with global efficiency and betweenness centrality metrics. Cost-efficiency of the networks at both local and global levels was evaluated by estimating the physical distance between functionally connected nodes, in addition to the overall numbers of connections in the network. Clustering coefficient, local efficiency and modularity were significantly higher in individuals with focal epilepsy than healthy control subjects, while global efficiency and betweenness centrality were not significantly different between the two groups. Local network properties were also highly efficient, at low cost, in focal epilepsy subjects compared to healthy controls. Our results show that functional networks in focal epilepsy are altered in a way that the nodes of the network are more isolated. We postulate that network regularity, or segregation of the nodes of the networks, may be an adaptation that inhibits the conversion of the interictal state to seizures. It remains possible that this may be part of the epileptogenic process or an effect of medications.

  12. [Characteristics of structural injuries in pediatric patients with focal epilepsy in a Honduran hospital].

    Science.gov (United States)

    Ramirez-Izcoa, A; Varela-Gonzalez, D; Fonseca, M I

    2017-08-01

    Epilepsy is the most commonly occurring neurological disorder in the world. The study of structural brain lesions is important to understand the secondary complications. In Honduras there is little information on this topic. To determine the characteristics and proportion of structural brain lesions in paediatric patients with focal epilepsy at the Hospital Escuela Universitario. A descriptive, cross-sectional, retrospective-prospective study. The study population consisted of 162 paediatric patients with focal epilepsy who were treated in the paediatric neurology outpatient department between January 2015 and June 2016. On applying the eligibility and exclusion criteria, the universe of study comprised 102 patients with focal epilepsy. 41% of the patients with focal epilepsy presented a structural lesion. The main locations of the structural lesions were the parietal lobe (12.8%), the occipital lobe (10.8%) and the frontal lobe (10.8%). An association was found between the presence of structural brain lesions and the presence of uncontrolled seizures, with statistical significance. The attributable risk was calculated and it was found that among patients with uncontrolled seizures, 67% had a structural lesion in the imaging study. The presence of uncontrolled seizures is associated to the presence of structural lesions in imaging studies, with a high attributable risk. Leukomalacia and cerebral ischaemia were the main findings that were reported. The predominant structural lesions in paediatric patients with focal epilepsy in the population studied are those related to events that take place during the peripartum period.

  13. Thermography Examination of Abdominal Area Skin Temperatures in Individuals With and Without Focal-Onset Epilepsy.

    Science.gov (United States)

    King, Hollis H; Cayce, Charles Thomas; Herrin, Jeph

    Early osteopathic theory and practice, and the work of the medical intuitive Edgar Cayce suggested that the abdominal areas of individuals with epilepsy would manifest "cold spots." The etiology for this phenomenon was thought to be abdominal adhesions caused by inflammation and viscero-somatic reflexes caused by adhesions or injury to visceral or musculoskeletal system structures. Indeed, until that advent of electroencephalography in the 1930s, medical practice regarding epilepsy focused on abdominal neural and visceral structures. Following two hypotheses were formulated to evaluate any abdominal temperature phenomena: (1) an abdominal quadrant division analysis would find one or more quadrants "colder" in the focal-onset epilepsy group (ICD9-CM 345.4 and 345.5) compared to controls. (2) Total abdominal areas of individuals with focal-onset epilepsy wound be colder than a control group.

  14. Effectiveness of clobazam as add-on therapy in children with refractory focal epilepsy

    OpenAIRE

    2006-01-01

    The objective of this study was to evaluate the safety and efficacy of clobazam in children with refractory focal epilepsy. We investigated 100 consecutive patients concerning etiology of epilepsy, previously used antiepileptic drugs, seizure frequency and adverse events. Clobazam was introduced as add-on therapy in patients with previous failure of at least two monotherapies. Mean age was eight years-old and 39 patients were girls. Clobazam mean dosage was 23.6 mg/day. Mean use of clobazam w...

  15. EFFICACY OF VIMPAT (LACOSAMIDE TN THE TREATMENT OF DRUG-RESISTANT CRYPTOGENIC FOCAL EPILEPSY WITH FOCAL AUTOMOTOR AND SECONDARILY GENERALIZED SEIZURES (A CLINICAL CASE

    Directory of Open Access Journals (Sweden)

    M. B. Mironov

    2012-01-01

    Full Text Available Despite the considerable advances of epileptology drug-resistant epilepsies consist about 30% among all forms of epilepsy. A case of successful using of a new antiepileptic drug lacosamide (vimpat in the treatment of 31 years old patient with the resistant form of cryptogenic focal epilepsy with focal automotor and secondarily generalized seizures is presented. Authors represent the review of the literature devoted to efficacy and tolerability of lacosamide in the treatment of drug-resistant epilepsy.

  16. Outcomes of resective surgery in children and adolescents with focal lesional epilepsy: The experience of a tertiary epilepsy center.

    Science.gov (United States)

    Hirfanoglu, Tugba; Serdaroglu, Ayse; Kurt, Gokhan; Erdem, Atilla; Capraz, Irem; Bilir, Erhan; Vural, Ozge; Ucar, Murat; Oner, Ali Yusuf; Onal, Baran; Akdemir, Ozgur; Atay, Ozlem; Arhan, Ebru; Aydin, Kursad

    2016-10-01

    This study aimed to investigate the efficacy of resective surgery in children with focal lesional epilepsy by evaluating the predictive value of pre- and postsurgical factors in terms of seizure freedom. This study included 61 children aged between 2 and 18years who were admitted to the pediatric video-EEG unit for presurgical workup. Each patient was evaluated with a detailed history, video-EEG, neuroimaging, and postsurgical outcomes according to Engel classification to predict postsurgical seizure freedom. All the possible factors including history, etiology, presurgical evaluation, surgical procedures, and postsurgical results were analyzed for their predictive value for postoperative seizure freedom. Of the 61 patients, 75% were diagnosed as having temporal lobe epilepsy (TLE), and 25% were diagnosed with extra-TLE. Two years after the surgery, 78.6% were seizure-free, of which 89% had TLE, and 50% had extra-TLE (pseizure freedom if they had rare seizure frequency, focal EEG findings, and focal seizures; had a temporal epileptogenic zone; or had TLE and hippocampal sclerosis. On the other hand, patients were more likely to have unfavorable results for seizure freedom if they had younger age of seizure onset, frequent seizures before the surgery, a frontal or multilobar epileptogenic zone, secondarily generalized seizures, extra-TLE with frontal lobe surgery, or focal cortical dysplasia. Resective surgery is one of the most effective treatment methods in children with intractable epilepsy. A history of young age of seizure onset, frequent seizures before surgery, secondarily generalized seizures, a multilobar epileptogenic zone, frontal lobe surgery, and focal cortical dysplasia (FCD) are the most important predictive factors indicating that a patient would continue having seizures after surgery. On the other hand, focal seizure semiologies, temporal lobe localization, and hippocampal sclerosis indicate that a patient would have better results in terms of

  17. Hippocampus and epilepsy: Findings from human tissues.

    Science.gov (United States)

    Huberfeld, G; Blauwblomme, T; Miles, R

    2015-03-01

    Surgical removal of the epileptogenic zone provides an effective therapy for several focal epileptic syndromes. This surgery offers the opportunity to study pathological activity in living human tissue for pharmacoresistant partial epilepsy syndromes including temporal lobe epilepsies with hippocampal sclerosis, cortical dysplasias, epilepsies associated with tumors and developmental malformations. Slices of tissue from patients with these syndromes retain functional neuronal networks and may generate epileptic activities. The properties of cells in this tissue may not be greatly changed, but excitatory synaptic transmission is often enhanced and GABAergic inhibition is preserved. Typically epileptic activity is not generated spontaneously by the neocortex, whether dysplastic or not, but can be induced by convulsants. The initiation of ictal discharges in the neocortex depends on both GABAergic signaling and increased extracellular potassium. In contrast, a spontaneous interictal-like activity is generated by tissues from patients with temporal lobe epilepsies associated with hippocampal sclerosis. This activity is initiated, not in the hippocampus but in the subiculum, an output region, which projects to the entorhinal cortex. Interictal events seem to be triggered by GABAergic cells, which paradoxically excite about 20% of subicular pyramidal cells while simultaneously inhibiting the majority. Interictal discharges thus depend on both GABAergic and glutamatergic signaling. The depolarizing effects of GABA depend on a pathological elevation in levels of chloride in some subicular cells, similar to those of developmentally immature cells. Such defect is caused by a perturbed expression of the cotransporters regulating intracellular chloride concentration, the importer NKCC1 and the extruder KCC2. Blockade of NKCC1 actions by the diuretic bumetanide restores intracellular chloride and thus hyperpolarizing GABAergic actions and consequently suppressing interictal

  18. Tract-specific atrophy in focal epilepsy: Disease, genetics, or seizures?

    Science.gov (United States)

    Vaughan, David N; Raffelt, David; Curwood, Evan; Tsai, Meng-Han; Tournier, Jacques-Donald; Connelly, Alan; Jackson, Graeme D

    2017-02-01

    To investigate whether genetics, underlying pathology, or repeated seizures contribute to atrophy in specific white matter tracts. Medically refractory unilateral temporal lobe epilepsy (TLE) with hippocampal sclerosis (HS-TLE, n = 26) was studied as an archetype of focal epilepsy, using fixel-based analysis of diffusion-weighted imaging. A genetic effect was assessed in first-degree relatives of HS-TLE subjects who did not have epilepsy themselves (HS-1°Rel; n = 26). The role of disease process was uncovered by comparing HS-TLE to unilateral TLE with normal clinical magnetic resonance imaging (MRI-neg TLE; n = 26, matched for seizure severity). The effect of focal seizures was inferred from lateralized atrophy common to both HS-TLE and MRI-neg TLE, in comparison to healthy controls (n = 76). HS-1 °Rel had bilaterally small hippocampi, but no focal white matter atrophy was detected, indicating a limited effect of genetics. HS-TLE subjects had lateralized atrophy of most temporal lobe tracts, and hippocampal volumes in HS-TLE correlated with parahippocampal cingulum and anterior commissure atrophy, indicating an effect of the underlying pathology. Ipsilateral atrophy of the tapetum, uncinate, and inferior fronto-occipital fasciculus was found in both HS-TLE and MRI-neg TLE, suggesting a common lateralized effect of focal seizures. Both epilepsy groups had bilateral atrophy of the dorsal cingulum and corpus callosum fibers, which we interpret as a consequence of bilateral insults (potentially generalized seizures and/or medications). Underlying pathology, repeated focal seizures, and global insults each contribute to atrophy in specific tracts. Genetic factors make less of a contribution in this cohort. A multifactorial model of white matter atrophy in focal epilepsy is proposed. Ann Neurol 2017;81:240-250. © 2016 American Neurological Association.

  19. The Ketogenic Diet Improves Recently Worsened Focal Epilepsy

    Science.gov (United States)

    Villeneuve, Nathalie; Pinton, Florence; Bahi-Buisson, Nadia; Dulac, Olivier; Chiron, Catherine; Nabbout, Rima

    2009-01-01

    Aim: We observed a dramatic response to the ketogenic diet in several patients with highly refractory epilepsy whose seizure frequency had recently worsened. This study aimed to identify whether this characteristic was a useful indication for the ketogenic diet. Method: From the 70 patients who received the ketogenic diet during a 3-year period at…

  20. The Ketogenic Diet Improves Recently Worsened Focal Epilepsy

    Science.gov (United States)

    Villeneuve, Nathalie; Pinton, Florence; Bahi-Buisson, Nadia; Dulac, Olivier; Chiron, Catherine; Nabbout, Rima

    2009-01-01

    Aim: We observed a dramatic response to the ketogenic diet in several patients with highly refractory epilepsy whose seizure frequency had recently worsened. This study aimed to identify whether this characteristic was a useful indication for the ketogenic diet. Method: From the 70 patients who received the ketogenic diet during a 3-year period at…

  1. Interictal and Postictal Performances on Dichotic Listening Test in Children with Focal Epilepsy

    Science.gov (United States)

    Carlsson, G.; Wiegand, G.; Stephani, U.

    2011-01-01

    Dichotic listening test (DL) is an important tool to disclose speech dominance in healthy subjects and in clinical cases. The aim of this study was to probe if focal epilepsy in children reveals a corresponding suppression of the ear reports contralateral to seizure onset site. Thus, 15 children and adolescents with clinically and…

  2. Left hippocampal pathology is associated with atypical language lateralization in patients with focal epilepsy.

    NARCIS (Netherlands)

    Weber, B.; Wellmer, J.; Reuber, M.; Mormann, F.; Weis, S.; Urbach, H.; Ruhlmann, J.; Elger, C.E.; Fernandez, G.

    2006-01-01

    It is well recognized that the incidence of atypical language lateralization is increased in patients with focal epilepsy. The hypothesis that shifts in language dominance are particularly likely when epileptic lesions are located in close vicinity to the so-called language-eloquent areas rather

  3. Seizure outcome after AED failure in pediatric focal epilepsy: impact of underlying etiology.

    Science.gov (United States)

    Wirrell, Elaine C; Wong-Kisiel, Lily C; Nickels, Katherine C

    2014-05-01

    This study aimed to identify long-term seizure outcome in pediatric nonsyndromic focal epilepsy after failure of serial antiepileptic drugs (AEDs) due to lack of efficacy. Children (1 month-17 years) with new-onset focal epilepsy not meeting the criteria for a defined electroclinical syndrome diagnosed between 1980 and 2009 while residing in Olmsted County, MN, were retrospectively identified. Medical records of those followed for ≥2 years were reviewed to assess etiology, the number of AEDs that failed due to lack of efficacy, and seizure outcome at final follow-up. Etiology was classified into structural/metabolic, genetic, or unknown. Favorable outcome was defined as seizure freedom ≥1 year, on or off AEDs, without prior epilepsy surgery. Poor outcome was defined as ongoing seizures in the preceding year or having undergone prior epilepsy surgery. Nonsyndromic focal epilepsy accounted for 275/468 (59%) of all patients with newly diagnosed epilepsy--of these, 256 (93%) were followed for a minimum of two years and were included in the study. Median duration of follow-up was 10.0 years. At least one AED had failed due to lack of efficacy in 100 (39.1%) children. Favorable outcomes occurred in 149/156 (95.5%) children with no AED failure, 16/30 (53.3%) with one AED failure, 8/25 (32%) with two AED failures, and only 2/45 (4.4%) with three AED failures. After two AED failures, the seizures of nearly one-quarter of children who had epilepsy with an unknown cause responded favorably to the third AED compared with only 7.8% of the cohort that had epilepsy with a structural/metabolic cause. Children with a remote brain insult had a significantly higher likelihood of favorable outcome with serial AEDs than those with other structural abnormalities. Etiology is an important determinant of pharmacoresistance in nonsyndromic focal epilepsy. Surgical evaluation should be considered after failure of 1-2 AEDs in those who have epilepsy with structural causes, excluding

  4. Accuracy of Conventional Diagnostic Methods for Identifying Structural Changes in Patients with Focal Epilepsy

    Science.gov (United States)

    Dakaj, Nazim; Kruja, Jera; Jashari, Fisnik; Boshnjaku, Dren; Shatri, Nexhat; Zeqiraj, Kamber

    2016-01-01

    Background: Epilepsy is a neurological disorder characterized by abnormal firing of nerve impulses in the brain. Aim: This study aims to investigate the frequency of appearance of pathological changes in conventional examination methods (electroencephalography–EEG, brain computerized tomography -CT or brain magnetic resonance imaging – MRI) in patients with epilepsy, and relationship between clinical manifestations and localization of changes in CT or MRI. Methods: In this study we have included 110 patients with focal epilepsy who fulfilled the inclusion criteria out of 557 initially diagnosed patients. Detailed clinical examination together with brain imaging (CT and MRI) and electroencephalography examination was performed. We have evaluated the accuracy of each diagnostic method to localize the epileptic focus. Diagnosis of epilepsy was determined by the ILAE (International League Against Epilepsy) criteria of the year 1989, and classification of epileptic seizures was made according to the ILAE classification 2010. Results: Electroencephalography presented changes in 60.9% of patients; brain CT in 42.1%, and MRI in 78% of the patients. The results of our study showed that clinical manifestations were not always conveyed with pathological changes in conventional examining methods performed. Of the total of 79 patients with changes in imaging (8 with changes in CT and 71 in MRI), 79.7% presented a clinical picture compatible with the region in which morphological changes were found, while in 20.3% of patients the presented morphological changes were not aligned with the clinical picture. Conclusion: In patients with epilepsy, conventional examination methods do not always find pathological changes, while clinical manifestations of epilepsy did not always coincide with the location of changes in imaging. Further studies are needed to see if there is clear border between focal and generalized epilepsy. PMID:28077892

  5. A Population-Based Study of Long-term Outcomes of Cryptogenic Focal Epilepsy in Childhood: Cryptogenic Epilepsy is NOT Probably Symptomatic Epilepsy

    Science.gov (United States)

    Wirrell, Elaine C; Grossardt, Brandon R; So, Elson L; Nickels, Katherine C

    2011-01-01

    Purpose To compare long-term outcome in a population-based group of children with cryptogenic vs symptomatic focal epilepsy diagnosed from 1980–2004 and to define the course of epilepsy in the cryptogenic group. Methods We identified all children residing in Olmsted County, MN, 1 month through 17 years with newly diagnosed, non-idiopathic focal epilepsy from 1980–2004. Children with idiopathic partial epilepsy syndromes were excluded. Medical records were reviewed to determine etiology, results of imaging and EEG studies, treatments used, and long-term outcome. Children were defined as having symptomatic epilepsy if they had a known genetic or structural/metabolic etiology, and as cryptogenic if they did not. Key Findings Of 359 children with newly-diagnosed epilepsy, 215 (60%) had non-idiopathic focal epilepsy. Of these, 206 (96%) were followed for more than 12 months. Ninety five children (46%) were classified as symptomatic. Median follow-up from diagnosis was similar in both groups, being 157 months (25%ile, 75%ile 89, 233) in the cryptogenic group vs 134 months (25%ile, 75%ile 78, 220) in the symptomatic group (p=0.26). Of 111 cryptogenic cases, 66% had normal cognition. Long-term outcome was significantly better in those with cryptogenic vs symptomatic etiology (intractable epilepsy at last follow-up, 7% vs 40%, pseizure-freedom at last follow-up, 81% vs 55%, pseizure-freedom at final follow-up, 68% of the cryptogenic group versus only 46% of the symptomatic group were off antiepileptic medications (p=0.01). One third of the cryptogenic group had a remarkably benign disorder, with no seizures seen after initiation of medication, or in those who were untreated, after the second afebrile seizure. A further 5% had seizures within the first year but remained seizure-free thereafter. With the exception of perinatal complications, which predicted against seizure remission, no other factors were found to significantly predict outcome in the cryptogenic group

  6. GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy

    Science.gov (United States)

    Lemke, Johannes R; Hendrickx, Rik; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Harvey, Robert J; James, Victoria M; Pepler, Alex; Steiner, Isabelle; Hörtnagel, Konstanze; Neidhardt, John; Ruf, Susanne; Wolff, Markus; Bartholdi, Deborah; Caraballo, Roberto; Platzer, Konrad; Suls, Arvid; De Jonghe, Peter; Biskup, Saskia; Weckhuysen, Sarah

    2014-01-01

    Objective To identify novel epilepsy genes using a panel approach and describe the functional consequences of mutations. Methods Using a panel approach, we screened 357 patients comprising a vast spectrum of epileptic disorders for defects in genes known to contribute to epilepsy and/or intellectual disability (ID). After detection of mutations in a novel epilepsy gene, we investigated functional effects in Xenopus laevis oocytes and screened a follow-up cohort. Results We revealed de novo mutations in GRIN2B encoding the NR2B subunit of the N-methyl-D-aspartate (NMDA) receptor in 2 individuals with West syndrome and severe developmental delay as well as 1 individual with ID and focal epilepsy. The patient with ID and focal epilepsy had a missense mutation in the extracellular glutamate-binding domain (p.Arg540His), whereas both West syndrome patients carried missense mutations within the NR2B ion channel-forming re-entrant loop (p.Asn615Ile, p.Val618Gly). Subsequent screening of 47 patients with unexplained infantile spasms did not reveal additional de novo mutations, but detected a carrier of a novel inherited GRIN2B splice site variant in close proximity (c.2011-5_2011-4delTC). Mutations p.Asn615Ile and p.Val618Gly cause a significantly reduced Mg2+ block and higher Ca2+ permeability, leading to a dramatically increased Ca2+ influx, whereas p.Arg540His caused less severe disturbance of channel function, corresponding to the milder patient phenotype. Interpretation We identified GRIN2B gain-of-function mutations as a cause of West syndrome with severe developmental delay as well as of ID with childhood onset focal epilepsy. Severely disturbed channel function corresponded to severe clinical phenotypes, underlining the important role of facilitated NMDA receptor signaling in epileptogenesis. PMID:24272827

  7. Cryptogenic focal epilepsy and "hidden" celiac disease in adulthood: a causal or accidental link?

    Science.gov (United States)

    Casciato, Sara; Morano, Alessandra; Albini, Mariarita; Fanella, Martina; Lapenta, Leonardo; Fattouch, Jinane; Carnì, Marco; Colonnese, Claudio; Manfredi, Mario; Giallonardo, Anna Teresa; Di Bonaventura, Carlo

    2015-01-01

    Celiac disease (CD) is an immuno-mediated small bowel disease characterized by chronic inflammation due to a permanent intolerance to gliadin. Several neurological complications have been described, including epilepsy, whose evolution might often improve by adopting gluten-free diet (GFD). We studied a population of adult patients affected by posterior drug-resistant epilepsy of unknown cause by performing an accurate screening for CD. In the selected patients presenting the association of epilepsy and CD, we characterized the related electro-clinical features. We consecutively identified 211 adult subjects affected by drug-resistant cryptogenic focal epilepsy with posterior seizures. All these patients underwent serological screening for CD. In 10 subjects positive serological tests allowed to perform a CD diagnosis (confirmed by duodenal biopsy). For each patient clinical and EEG data, neuroimaging studies, serological and histological findings were revised, as well as response to GFD, defined as an improvement in seizure outcome. A significant delay between diagnosis of epilepsy and CD was documented. Visual ictal manifestations were reported in half of subjects. In all cases, interictal EEG showed slow and epileptiform abnormalities over parietal-occipital and temporal regions; in three cases, FOS phenomenon was observed. Four patients had familiar history of CD and six cases showed clinical signs/symptoms of malabsorption. GFD led to a reduction of seizure frequency in half of patients. "Posterior" ictal semiology, peculiar EEG patterns and drug-resistance emerge as the most interesting characteristics. CD screening should be performed in epilepsy patients presenting such features.

  8. New genes for focal epilepsies with speech and language disorders.

    Science.gov (United States)

    Turner, Samantha J; Morgan, Angela T; Perez, Eliane Roulet; Scheffer, Ingrid E

    2015-06-01

    The last 2 years have seen exciting advances in the genetics of Landau-Kleffner syndrome and related disorders, encompassed within the epilepsy-aphasia spectrum (EAS). The striking finding of mutations in the N-methyl-D-aspartate (NMDA) receptor subunit gene GRIN2A as the first monogenic cause in up to 20% of patients with EAS suggests that excitatory glutamate receptors play a key role in these disorders. Patients with GRIN2A mutations have a recognizable speech and language phenotype that may assist with diagnosis. Other molecules involved in RNA binding and cell adhesion have been implicated in EAS; copy number variations are also found. The emerging picture highlights the overlap between the genetic determinants of EAS with speech and language disorders, intellectual disability, autism spectrum disorders and more complex developmental phenotypes.

  9. EFFICACY OF RUFINAMIDE IN THE TREATMENT OF DRUG-RESISTANT FOCAL EPILEPSIES IN PAEDIATRIC PRACTICE

    Directory of Open Access Journals (Sweden)

    I. O. Shchederkina

    2016-01-01

    Full Text Available Among drug-resistant epilepsies, epileptic syndromes, characterized by combination of several types of seizures, are considered to be the most difficult in terms of treatment. Lennox–Gastaut syndrome is one of them. It manifests with polymorphic seizures (tonic axial, myatonic, atypical absence seizures, status epilepticus of minor motor seizures, myoclonic, generalized convulsive, and focal seizures. This is a heterogeneous disease, represented by a complex of clinical and electroencephalographic manifestations with various etiology. Current review is devoted to a novel antiepileptic drug rufinamide, which has a new mechanism of action. The drug has been registered in Russia in 2015. The authors also describe their own experience of rufinamide usage in the treatment of drug-resistant focal epilepsy as a part of multicomponent therapy for polymorphic seizures. One patient achieved clinical remission for 16 months; the second one had more than 50 % decrease in seizures frequency with a remission of drop-attacks.

  10. Focal status epilepticus as atypical presentation of pyridoxine-dependent epilepsy.

    Science.gov (United States)

    Yoshii, Akira; Takeoka, Masanori; Kelly, Peter J; Krishnamoorthy, Kalpahty S

    2005-08-01

    Pyridoxine-dependent epilepsy usually presents in the neonatal period or even in utero, is refractory to antiepileptic medications, and is treatable with lifelong administration of pyridoxine. The seizures are typically generalized tonic-clonic, although myoclonic seizures or infantile spasms have been described. We report an infant who presented at 5 months of age with a right-sided clonic seizure with fever. Subsequently, she had recurrent right focal or generalized seizures despite sequential treatment with various antiepileptic medications. At 7 months, she was hospitalized with status epilepticus, which was finally controlled with pyridoxine. After she became seizure free, she continued to have a strong left arm preference with mild weakness of the right arm and delayed language skill. Eventually, she outgrew these symptoms. This case illustrates that pyridoxine-dependent epilepsy, although rare, must be included in the differential diagnosis of focal seizures, especially when the seizures are refractory to traditional antiepileptic drugs.

  11. The contribution of spirituality to quality of life in focal epilepsy.

    Science.gov (United States)

    Giovagnoli, Anna R; Meneses, Rute F; da Silva, Antonio Martins

    2006-08-01

    People with epilepsy of comparable severity may differ widely in quality of life (QOL), suggesting a role for unexplored individual aspects. This study considered the possible role of spirituality. Thirty-two patients with focal epilepsy completed scales for QOL (World Heath Organization QOL, WHOQOL 100), spirituality (WHO Spirituality, Religiousness, and Personal Beliefs), depression, anxiety, and cognitive efficiency, as well as neuropsychological testing. The QOL and spirituality scales exhibited satisfactory internal consistency. Factor analyses of the scale and test scores yielded separate spiritual (Personal Meaning, Inner Energy, Awe and Transcendence, and Openness), affective (Mood), and cognitive (Cognition, Memory, and Perceived Cognitive Efficiency) factors. The total WHOQOL 100 score was significantly predicted by the Awe and Transcendence and Mood factors. The spiritual, Mood, and Cognition factors significantly predicted single QOL domains. These preliminary results highlight the contribution of spirituality to QOL in epilepsy, encouraging future studies. This could influence the conceptualization and assessment of QOL in these patients.

  12. Evaluation of GLUT1 variation in non-acquired focal epilepsy.

    Science.gov (United States)

    Peeraer, Alexander; Damiano, John A; Bellows, Susannah T; Scheffer, Ingrid E; Berkovic, Samuel F; Mullen, Saul A; Hildebrand, Michael S

    2017-07-01

    Brain glucose transport is dependent on glucose transporter 1 (GLUT1), encoded by the solute carrier family 2 member 1 (SLC2A1) gene. Mutations in SLC2A1 cause GLUT1 deficiency which is characterized by a broad spectrum of neurological phenotypes including generalized epilepsy, motor disorders, developmental delay and microcephaly. Recent case reports suggest SLC2A1 mutations can contribute to non-acquired focal epilepsy (NAFE) but interrogation of a large patient cohort has not been reported. We studied 200 patients with NAFE (126 with temporal lobe epilepsy) comprising 104 females and 96 males with a mean age of onset of 18 years. Polymerase chain reaction (PCR) and Sanger sequencing was performed to detect variants in all 10 coding exons and splice site regions of the SLC2A1 gene. We did not detect any pathogenic mutations in SLC2A1 in this cohort. Our data suggests that the frequency of GLUT1 mutations in NAFE is low. Limitations of this study include the mean age of onset and cohort size. Future research should focus on subpopulations of focal epilepsy with lower age of seizure onset particularly with co-existent movement disorders in which GLUT1 mutations may play a more important role. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Expression and localization of voltage dependent potassium channel Kv4.2 in epilepsy associated focal lesions

    NARCIS (Netherlands)

    Aronica, E.; Boer, K.; Doorn, K.J.; Zurolo, E.; Spliet, W.G.M.; van Rijen, P.C.; Baayen, J.C.; Gorter, J.A.; Jeromin, A.

    2009-01-01

    An increasing number of observations suggest an important role for voltage-gated potassium (Kv) channels in epilepsy. We studied the cell-specific distribution of Kv4.2, phosphorylated (p) Kv4.2 and the Kv4.2 interacting protein NCS-1 using immunocytochemistry in different epilepsy-associated focal

  14. Expression and localization of voltage dependent potassium channel Kv4.2 in epilepsy associated focal lesions

    NARCIS (Netherlands)

    Aronica, E.; Boer, K.; Doorn, K.J.; Zurolo, E.; Spliet, W.G.M.; van Rijen, P.C.; Baayen, J.C.; Gorter, J.A.; Jeromin, A.

    2009-01-01

    An increasing number of observations suggest an important role for voltage-gated potassium (Kv) channels in epilepsy. We studied the cell-specific distribution of Kv4.2, phosphorylated (p) Kv4.2 and the Kv4.2 interacting protein NCS-1 using immunocytochemistry in different epilepsy-associated focal

  15. Tall gastrodis tuber combined with antiepileptic drugs repairs abnormal perfusion foci in focal epilepsy

    Institute of Scientific and Technical Information of China (English)

    Weimin Wang; Zhenyu Fan; Yongqin Zhang; Yuxia Yang; Yaqing Liu; Xiaoli Dang; Wenjun Song; Yinping Wu; Jiang Ye

    2013-01-01

    One hundred patients with focal epilepsy were recruited for the present study and their seizures controlled with antiepileptic drugs. The patients then orally received a capsule of tall gastrodis tuber powder, a traditional Chinese drug, and underwent single photon emission computed tomography, long-term electroencephalogram, and CT/MRI. Blood drug levels were monitored throughout the study. Before treatment with tall gastrodis tuber, 35 of the 100 cases had abnormal CT/MRI scans; 79 cases had abnormal single photon emission computed tomography images; 86 cases had abnormal electroencephalogram; and a total of 146 abnormal perfusion foci were observed across the 100 subjects. After treatment, the number of patients with normal single photon emission computed tomography images increased by 12; normal electroencephalogram was observed in an additional 27 cases and the number of patients with epileptiform discharge decreased by 29 (34% of 86); the total number of abnormal perfusion foci decreased by 52 (36%) and changes in abnormal foci were visible in 65 patients. These changes indicate that the administration of tall gastrodis tuber in combination with antiepileptic drugs repairs abnormal perfusion foci in patients with focal epilepsy. Our results demonstrate that traditional Chinese drugs can repair abnormal perfusion foci and, as such, are a promising new pathway in the treatment of focal epilepsy.

  16. Disruption of learning and long-term retention of prose passages in patients with focal epilepsy.

    Science.gov (United States)

    Ricci, Monica; Mohamed, Armin; Savage, Greg; Miller, Laurie A

    2015-10-01

    Recent investigations of accelerated long-term forgetting, a condition in which newly acquired memory is normal initially but decays rapidly over days or weeks, indicate that multiple factors might influence whether this phenomenon is seen in patients with epilepsy. Test-based differences such as learning condition or type of memory measure (e.g., recall vs recognition) as well as epilepsy variables (e.g., side, site, or frequency of epileptiform activity) may be important. The present study sought to characterize factors affecting learning and memory for prose passages in patients with focal epilepsy. We enrolled 21 patients with temporal lobe epilepsy, with and without hippocampal lesions, 11 patients with extratemporal epilepsy (ETE), and 29 healthy controls. Two matched passages were used to compare effects of initial learning condition (one exposure versus learning-to-criterion) on subsequent patterns of retention. Recall and recognition were tested at different delays (i.e., immediately, 30min, 24h, and 4days). Regression analyses and one-way ANOVAs indicated that having a left-hemisphere epileptic focus had a negative impact on learning, whilst presence of a hippocampal lesion (irrespective of side) was associated with deterioration in recall for intervals up to 24h postencoding. Learning condition affected patterns of memory decay in that the ETE group showed significant decline in recall between 24h and 4days only when stories were learned to criterion. In contrast with recall, no changes over time were evident in recognition memory, as patients with hippocampal lesions were impaired from 30min onward. Epilepsy variables other than side and site of epilepsy/lesion did not influence performance. In conclusion, the left hemisphere is involved in learning of prose material, and the hippocampus is involved in the consolidation of this material mainly for the first 24h. After this, cortical regions outside the hippocampus become important for recall.

  17. [Case report of muscle cramp versus focal epilepsy].

    Science.gov (United States)

    Fujita, H; Muranaka, H; Osari, S; Kimura, Y; Goto, A; Koda, M; Shiotani, M; Ozaki, I

    1999-09-01

    We report here a boy suffering from muscle cramps in the right upper extremity. At 32 days of age, he developed purulent meningitis followed by paresis of the right upper extremity. From infancy he had intermittent episodes myoclonus-like involving the right hand. Since he also had true epileptic seizures with loss of consciousness, ocular deviation, and vomiting at 6 and 8 years of age, he was treated with anti-epileptic drugs as therapy for focal motor seizures. At 6 years of age, these episodes increased in frequency. The cramps spread from the right hand to involve the entire upper extremity with pain. At the age of 10, he was referred to Hirosaki University Hospital and was admitted. Using closed circuit television with continuous EEG and EMG monitoring we observed during his episodes repeated EMG abnormalities consisting of continuous discharges of polyphasic motor unit potentials, but no epileptic EEG discharges. We diagnosed these episodes as muscle cramp. His muscle cramps were controlled by medication with muscle relaxants and Chinese medicines. This case illustrates that the differential diagnosis between muscle cramps and epileptic seizures is important for proper treatment.

  18. [Epilepsy surgery in children with focal cortical dysplasias].

    Science.gov (United States)

    Villarejo-Ortega, Francisco J; Álvarez-Linera Prado, Juan; Pérez-Jiménez, M Ángeles

    2013-09-06

    Introduccion. Las displasias corticales focales (DCF) son la primera etiologia de cirugia de la epilepsia pediatrica. La evaluacion prequirurgica en DCF a menudo es compleja, ya que son lesiones que pueden ser altamente epileptogenas y, a la vez, conservar funcion neurologica, y no visualizarse en la resonancia magnetica. El exito de la cirugia depende, en gran medida, de la adecuada identificacion de la lesion y de la posibilidad de realizar una reseccion completa del tejido displasico. En este trabajo se revisa la bibliografia relacionada con el tema, en relacion con la experiencia de los autores. Desarrollo. Se revisan algunos avances relacionados con la evaluacion prequirurgica y el abordaje neuroquirurgico de la epilepsia en niños con DCF; se comentan los resultados de las series quirurgicas en relacion con las clasificaciones de DCF y los factores de pronostico posquirurgico; se describen algunos fenotipos anatomoelectroclinicos distintivos en niños con DCF y su abordaje quirurgico; y se comentan brevemente los actuales retos y el futuro del tratamiento quirurgico de la epilepsia en DCF. Conclusiones. El avance los metodos de diagnostico prequirurgico y de procedimientos quirurgicos esta permitiendo ofrecer un tratamiento exitoso en edades tempranas a pacientes con DCF previamente considerados 'no lesionales' y a pacientes con lesiones localizadas en la 'corteza elocuente'. La identificacion de fenotipos anatomoelectroclinicos de DCF permite establecer abordajes quirurgicos y expectativas de pronostico posquirurgico adecuadas a cada situacion, mejor en las DCF IIb transmantle y en las displasias de fondo de surco que en las DCF multilobares, en su mayoria DCF I.

  19. Value of repeat brain MRI in children with focal epilepsy and negative findings on initial MRI

    Energy Technology Data Exchange (ETDEWEB)

    Jeon, Tae Yeon; Kim, Ji Hye; Lee, Jee Hun; Yoo, So Young; Hwang, Sook Min; Lee, Mun Hyang [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2017-08-01

    To evaluate the value of repeat brain magnetic resonance imaging (MRI) in identifying potential epileptogenic lesions in children with initial MRI-negative focal epilepsy. Our Institutional Review Board approved this retrospective study and waived the requirement for informed consent. During a 15-year period, 257 children (148 boys and 109 girls) with initial MRI-negative focal epilepsy were included. After re-evaluating both initial and repeat MRIs, positive results at repeat MRI were classified into potential epileptogenic lesions (malformation of cortical development and hippocampal sclerosis) and other abnormalities. Contributing factors for improved lesion conspicuity of the initially overlooked potential epileptogenic lesions were analyzed and classified into lesion factors and imaging factors. Repeat MRI was positive in 21% (55/257) and negative in 79% cases (202/257). Of the positive results, potential epileptogenic lesions comprised 49% (27/55) and other abnormalities comprised 11% of the cases (28/257). Potential epileptogenic lesions included focal cortical dysplasia (n = 11), hippocampal sclerosis (n = 10), polymicrogyria (n = 2), heterotopic gray matter (n = 2), microlissencephaly (n = 1), and cortical tumor (n = 1). Of these, seven patients underwent surgical resection. Contributing factors for new diagnoses were classified as imaging factors alone (n = 6), lesion factors alone (n = 2), both (n = 18), and neither (n = 1). Repeat MRI revealed positive results in 21% of the children with initial MRI-negative focal epilepsy, with 50% of the positive results considered as potential epileptogenic lesions. Enhanced MRI techniques or considering the chronological changes of lesions on MRI may improve the diagnostic yield for identification of potential epileptogenic lesions on repeat MRI.

  20. Cortical excitability in patients with focal epilepsy: a study with high frequency repetitive transcranial magnetic stimulation (rTMS

    Directory of Open Access Journals (Sweden)

    Maria Gabriele

    2008-12-01

    Full Text Available Epileptogenesis involves an increase in excitatory synaptic strength in the brain in a manner similar to synaptic potentiation. In the present study we investigated the mechanisms of short-term synaptic potentiation in patients with focal epilepsy by using 5 Hz repetitive transcranial magnetic stimulation (rTMS, a non invasive neurophysiological technique able to investigate the mechanisms of synaptic plasticity in humans. Ten patients with focal idiopathic cortical epilepsy were studied. 5 Hz-rTMS (10 stimuli-trains, 120% of motor threshold, RMT was delivered over the first dorsal interosseus (FDI motor area of both (affected and unaffected hemispheres. Changes in the motor evoked potential (MEP size in the FDI muscle during the trains and the RMT were measured and compared between the hemispheres. 5 Hz-rTMS was also delivered in a group of healthy subjects over both hemispheres. 5 Hz-rTMS in patients elicited a reduced MEP facilitation compared to normal subjects. The reduced MEP amplitude was more evident in the affected hemisphere than in the unaffected hemisphere. RMT in the affected hemisphere was higher than in the unaffected hemisphere and in healthy subjects. Our findings showing a decreased response to 5 Hz-rTMS over the affected hemisphere, differently from the expected results suggest a reduced cortical excitability in epileptic patients. We hypothesize an altered balance between excitatory and inhibitory circuits in epileptic patients under chronic therapy.

  1. Effectiveness of clobazam as add-on therapy in children with refractory focal epilepsy.

    Science.gov (United States)

    da Silveira, Mariana Ribeiro Marcondes; Montenegro, Maria Augusta; Franzon, Renata Cristina; Guerreiro, Carlos A M; Guerreiro, Marilisa M

    2006-09-01

    The objective of this study was to evaluate the safety and efficacy of clobazam in children with refractory focal epilepsy. We investigated 100 consecutive patients concerning etiology of epilepsy, previously used antiepileptic drugs, seizure frequency and adverse events. Clobazam was introduced as add-on therapy in patients with previous failure of at least two monotherapies. Mean age was eight years-old and 39 patients were girls. Clobazam mean dosage was 23.6 mg/day. Mean use of clobazam was 18.6 months. Twenty-two patients had adverse events. Twenty-six patients became seizure-free, 11 had an improvement of >75% and in 58 there was no modification in seizure frequency. Five patients had an increase in seizure frequency. Clobazam efficacy lasted for more than one year in 42% of the seizure-free patients. Clobazam seems to be safe and effective in the treatment of focal epilepsy in childhood and should be considered in patients with refractory seizures.

  2. EEG after sleep deprivation is a sensitive tool in the first diagnosis of idiopathic generalized but not focal epilepsy.

    Science.gov (United States)

    Renzel, Roland; Baumann, Christian R; Poryazova, Rositsa

    2016-01-01

    Electroencephalography (EEG) is an essential tool in the diagnosis of epilepsy. EEG after sleep deprivation might increase the likelihood of finding specific epileptiform abnormalities. However conflicting data exist concerning the sensitivity and specificity of this method. We aimed to evaluate the role of EEG after sleep deprivation in the first diagnosis of epilepsy. We analyzed retrospectively the medical histories of patients who underwent at least one unspecific standard EEG and a subsequent EEG after sleep deprivation during the time period from 2001 to 2014 at the University Hospital Zurich because of suspected epilepsy. Out of 237 patients who fulfilled all inclusion criteria, 69 were finally diagnosed with epilepsy. Seventeen of them showed interictal epileptiform patterns in EEGs after sleep deprivation, giving this method an overall sensitivity of 25%. Sensitivity of EEG after sleep deprivation was superior in patients with primary generalized epilepsies compared to patients with focal epilepsies (64% vs. 17%, p=0.0011). Overall EEG after sleep deprivation was not more sensitive than a subsequent repeated standard EEG in a subgroup of 55 patients (22% vs. 9%; p=0.065). After an unspecific standard EEG, EEG after sleep deprivation is a useful tool to increase diagnostic sensitivity in patients with idiopathic generalized epilepsy but not in those with focal epilepsy. This study provides further evidence about the usefulness of EEG after sleep deprivation as an additional diagnostic tool in epilepsy. Copyright © 2015 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

  3. Rufinamide efficacy and safety as adjunctive treatment in children with focal drug resistant epilepsy: the first Italian prospective study.

    Science.gov (United States)

    Moavero, Romina; Cusmai, Raffaella; Specchio, Nicola; Fusco, Lucia; Capuano, Alessandro; Curatolo, Paolo; Vigevano, Federico

    2012-11-01

    Rufinamide is a new antiepileptic drug approved as add-on treatment in Lennox-Gastaut syndrome from the age of 4 years, and for the treatment of focal seizures in adults and adolescents. The aim of this prospective study was to evaluate the safety and efficacy of add-on Rufinamide in the treatment of childhood focal drug resistant epilepsy. We recruited 70 patients for a prospective, add-on, open-label study. Inclusion criteria were: 3 years of age or more; focal drug resistant epilepsy despite the use of three previous AEDs; use of at least one other AED, but no more than three at baseline; more than one seizure per month in the previous 6 months. Rufinamide efficacy was observed up to 12 months of follow-up, with a total responder rate of 38.57%. We found the best results in focal epilepsies due to structural/metabolic etiology (42.6%). The responder rate was similar for focal seizures with secondary generalization, simple focal seizures other than myoclonic jerks, and complex partial seizures. Response to Rufinamide was not related to the age. Our experience suggests that Rufinamide can be effective in reducing focal seizure frequency in children with drug resistant epilepsy, and that it can be considered as a safe drug.

  4. Epilepsy of infancy with migrating focal seizures: three patients treated with the ketogenic diet.

    Science.gov (United States)

    Caraballo, Roberto; Noli, Daniel; Cachia, Pedro

    2015-06-01

    We present three patients with epilepsy of infancy with migrating focal seizures treated with the ketogenic diet. Between February 1, 2012 and January 31, 2014, three patients who met the diagnostic criteria for migrating focal seizures in infancy at our department were placed on the ketogenic diet and followed for a minimum of seven months. Two of the three children responded well to the ketogenic diet. One of these patients became seizure-free and his neuropsychological performance also significantly improved. The other child had a seizure reduction of 75% to 99% with only weekly seizures and moderate psychomotor improvement. For these two patients who responded well to the ketogenic diet, hospital admission was not required. The remaining patient had a seizure reduction of less than 50%. Tolerability of the diet was good in all three patients. Early treatment with the ketogenic diet should be considered for epilepsy of infancy with migrating focal seizures to control seizures and status epilepticus, and avoid progressive cognitive impairment.

  5. Epilepsy: Extreme Events in the Human Brain

    Science.gov (United States)

    Lehnertz, Klaus

    The analysis of Xevents arising in dynamical systems with many degrees of freedom represents a challenge for many scientific fields. This is especially true for the open, dissipative, and adaptive system known as the human brain. Due to its complex structure, its immense functionality, and — as in the case of epilepsy — due to the coexistence of normal and abnormal functions, the brain can be regarded as one of the most complex and fascinating systems in nature. Data gathered so far show that the epileptic process exhibits a high spatial and temporal variability. Small, specific, regions of the brain are responsible for the generation of focal epileptic seizures, and the amount of time a patient spends actually having seizures is only a small fraction of his/her lifetime. In between these Xevents large parts of the brain exhibit normal functioning. Since the occurrence of seizures usually can not be explained by exogenous factors, and since the brain recovers its normal state after a seizure in the majority of cases, this might indicate that endogenous nonlinear (deterministic and/or stochastic) properties are involved in the control of these Xevents. In fact, converging evidence now indicates that (particularly) nonlinear approaches to the analysis of brain activity allow us to define precursors which, provided sufficient sensitivity and specificity can be obtained, might lead to the development of patient-specific seizure anticipation and seizure prevention strategies.

  6. Review of therapeutic options for adjuvant treatment of focal seizures in epilepsy: focus on lacosamide.

    Science.gov (United States)

    Becerra, Juan Luis; Ojeda, Joaquín; Corredera, Enrique; Ruiz Giménez, Jesús

    2011-12-05

    Epilepsy is one of the most common serious neurological conditions worldwide, with an age-adjusted incidence of approximately 50 per 100,000 persons per year in developed countries. Antiepileptic therapy can result in long-term remission in 60-70% of patients, but many patients will require combination treatment to achieve optimal seizure control, as monotherapy is ineffective at controlling seizures in 30-53% of patients. Despite the increase in available treatment options, patient outcomes have not improved significantly and there is still a need for more effective therapies. Drugs used in the treatment of focal-onset seizures are a diverse range of compounds, and in most cases their mechanism of action is unknown or poorly defined. This review discusses the efficacy and safety of the newer adjuvant antiepileptic therapies that may improve outcomes in patients unresponsive to monotherapy, including clobazam, vigabatrin, lamotrigine, gabapentin, topiramate, tiagabine, levetiracetam, oxcarbazepine, pregabalin, zonisamide and eslicarbazepine, with focus on lacosamide. Lacosamide has been shown to exert its anticonvulsant effects predominantly by enhancement of the slow inactivation of voltage-gated sodium channels. Lacosamide is indicated for use as adjuvant treatment of focal-onset seizures in patients with epilepsy, and there is some evidence that it may also be of use in patients with status epilepticus and cancer patients with epilepsy. The efficacy of lacosamide has been assessed in three randomized, double-blind, placebo-controlled clinical trials, all of which have shown lacosamide to be effective at reducing seizure frequency and increasing 50% responder rates in patients with focal-onset seizures. Long-term lacosamide treatment is generally well tolerated and is not associated with significant drug interactions; the availability of an intravenous form of the drug also makes it particularly useful for a broad range of patients.

  7. Quantitative analysis by renormalized entropy of invasive electroencephalograph recordings in focal epilepsy

    Science.gov (United States)

    Kopitzki, K.; Warnke, P. C.; Timmer, J.

    1998-10-01

    Invasive electroencephalograph (EEG) recordings of ten patients suffering from focal epilepsy were analyzed using the method of renormalized entropy. Introduced as a complexity measure for the different regimes of a dynamical system, the feature was tested here for its spatiotemporal behavior in epileptic seizures. In all patients a decrease of renormalized entropy within the ictal phase of seizure was found. Furthermore, the strength of this decrease is monotonically related to the distance of the recording location to the focus. The results suggest that the method of renormalized entropy is a useful procedure for clinical applications like seizure detection and localization of epileptic foci.

  8. Quantitative analysis by renormalized entropy of invasive electroencephalograph recordings in focal epilepsy

    CERN Document Server

    Kopitzki, K; Timmer, J

    1998-01-01

    Invasive electroencephalograph (EEG) recordings of ten patients suffering from focal epilepsy were analyzed using the method of renormalized entropy. Introduced as a complexity measure for the different regimes of a dynamical system, the feature was tested here for its spatio-temporal behavior in epileptic seizures. In all patients a decrease of renormalized entropy within the ictal phase of seizure was found. Furthermore, the strength of this decrease is monotonically related to the distance of the recording location to the focus. The results suggest that the method of renormalized entropy is a useful procedure for clinical applications like seizure detection and localization of epileptic foci.

  9. Distributions of Irritative Zones Are Related to Individual Alterations of Resting-State Networks in Focal Epilepsy.

    Directory of Open Access Journals (Sweden)

    Yinchen Song

    Full Text Available Alterations in the connectivity patterns of the fMRI-based resting-state networks (RSNs have been reported in several types of epilepsies. Evidence pointed out these alterations might be associated with the genesis and propagation of interictal epileptiform discharges (IEDs. IEDs also evoke blood-oxygen-level dependent (BOLD responses, which have been used to delineate irritative zones during preoperative work-up. Therefore, one may expect a relationship between the topology of the IED-evoked BOLD response network and the altered spatial patterns of the RSNs. In this study, we used EEG recordings and fMRI data obtained simultaneously from a chronic model of focal epilepsy in Wistar rats to verify our hypothesis. We found that IED-evoked BOLD response networks comprise both cortical and subcortical structures with a rat-dependent topology. In all rats, IEDs evoke both activation and deactivation types of BOLD responses. Using a Granger causality method, we found that in many cases areas with BOLD deactivation have directed influences on areas with activation (p<0.05. We were able to predict topological properties (i.e., focal/diffused, unilateral/bilateral of the IED-evoked BOLD response network by performing hierarchical clustering analysis on major spatial features of the RSNs. All these results suggest that IEDs and disruptions in the RSNs found previously in humans may be different manifestations of the same transient events, probably reflecting altered consciousness. In our opinion, the shutdown of specific nodes of the default mode network may cause uncontrollable excitability in other functionally connected brain areas. We conclude that IED-evoked BOLD responses (i.e., activation and deactivation and alterations of RSNs are intrinsically related, and speculate that an understanding of their interplay is necessary to discriminate focal epileptogenesis and network propagation phenomena across different brain modules via hub

  10. Focal epilepsies: HM-PAO SPECT compared with CT, MR, and EEG.

    Science.gov (United States)

    Cordes, M; Christe, W; Henkes, H; Delavier, U; Eichstädt, H; Schörner, W; Langer, R; Felix, R

    1990-01-01

    Regional cerebral blood flow (rCBF) was evaluated quantitatively by 99mTc hexamethyl propyleneamine oxime and single photon emission CT (SPECT) during the interictal phase in 52 patients with focal epilepsy. The results were compared with those obtained by electroencephalography (EEG), CT, and magnetic resonance (MR) imaging. Twenty-four of the 52 patients had one area of local hypoperfusion whereas 7 patients showed an area of local hyperperfusion. In 20 of the 52 patients, both reduced and elevated rCBF values were found. One patient had a normal perfusion pattern. The SPECT findings correlated well with the foci shown by EEG, both with regard to the sides affected and the locations of the regions of altered perfusion. The MR images showed focal lesions in only approximately one-half of the patients examined, and CT in even fewer.

  11. Serum MicroRNA-4521 is a Potential Biomarker for Focal Cortical Dysplasia with Refractory Epilepsy.

    Science.gov (United States)

    Wang, Xiaofeng; Sun, Yuqiang; Tan, Zeshi; Che, Ningwei; Ji, Anlong; Luo, Xiaodong; Sun, Xu; Li, Xinyu; Yang, Kang; Wang, Guanyu; Luan, Lan; Liu, Yaoling; Wei, Minghai; Yin, Jian

    2016-04-01

    Early biomarker-based diagnosis of focal cortical dysplasia (FCD) represents a major clinical challenge. The aim of this study was to identify novel brain microRNAs (miRNAs) in patients with refractory epilepsy and FCD as potential biomarkers. We evaluated serum hsa-miR-4521 as a promising novel biomarker in patients with FCD. Tissue for microarray was obtained from nine patients with temporal lobe refractory epilepsy who underwent surgery to remove epileptic foci identified by cortical video electroencephalogram monitoring. Control tissue was collected from eight patients with hypertension who required emergency surgery to remove an intracranial hematoma. The Affymetrix® GeneChip® Command Console® Software (Affymetrix miRNA 4.0) was used to compare miRNA expression in the cerebral cortex of experimental and control patients. Temporal cortex tissue and serum samples were taken from the same patients for verification of hsa-miR-4521 expression by real-time quantitative polymerase chain reaction (RT-qPCR). The experimental and control patients did not differ significantly in terms of age and gender. 19.4 % (148/764) of the total miRNAs were differentially expressed in experimental and control tissue, which is in agreement with the existing literature. We selected miRNA-4521 for further analysis; the fold-change in expression was 14.4707 and the q value was almost 0, which confirmed up-regulation. Significant up-regulation of hsa-miR-4521 was further validated by RT-qPCR. miRNA microarrays can efficiently and conveniently identify differentially expressed miRNAs in epilepsy brain tissue. This is the first study to identify differential expression of hsa-miR-4521 in brain tissue and serum of refractory epilepsy patients and suggests that serum hsa-miR-4521 may represent a potential diagnostic biomarker for FCD with refractory epilepsy.

  12. Temporal lobe epilepsy and focal cortical dysplasia in children: A tip to find the abnormality.

    Science.gov (United States)

    Bartolini, Luca; Whitehead, Matthew T; Ho, Cheng-Ying; Sepeta, Leigh N; Oluigbo, Chima O; Havens, Kathryn; Freilich, Emily R; Schreiber, John M; Gaillard, William D

    2017-01-01

    To demonstrate an association between magnetic resonance imaging (MRI) findings and pathologic characteristics in children who had surgery for medically refractory epilepsy due to focal cortical dysplasia (FCD). We retrospectively studied 110 children who had epilepsy surgery. Twenty-seven patients with FCD were included. Thirteen had temporal lobe epilepsy (TLE) and 14 had extra-temporal lobe epilepsy (ETLE). Three patients had associated mesial temporal sclerosis. Preoperative 3T MRIs interleaved with nine controls were blindly re-reviewed and categorized according to signal alteration. Pathologic specimens were classified according to the 2011 International League Against Epilepsy (ILAE) classification and compared to MRI studies. Rates of pathology subtypes differed between TLE and ETLE (χ(2) (3) = 8.57, p = 0.04). FCD type I was more frequent in TLE, whereas FCD type II was more frequent in ETLE. In the TLE group, nine patients had temporal tip abnormalities. They all exhibited gray-white matter blurring with decreased myelination and white matter hyperintense signal. Blurring involved the whole temporal tip, not just the area of dysplasia. These patients were less likely to demonstrate cortical thickening compared to those without temporal tip findings (χ(2) (1) = 9.55, p = 0.002). Three of them had FCD Ib, three had FCD IIa, two had FCD IIIa, and one had FCD IIb; MRI features could not entirely distinguish between FCD subtypes. TLE patients showed more pronounced findings than ETLE on MRI (χ(2) (1) = 11.95, p = 0.003, odds ratio [OR] 18.00). In all cases of FCD, isolated blurring was more likely to be associated with FCD II, whereas blurring with decreased myelination was seen with FCD I (χ(2) (6) = 13.07, p = 0.042). Our study described associations between MRI characteristics and pathology in children with FCD and offered a detailed analysis of temporal lobe tip abnormalities and FCD subtypes in children with TLE. These findings may contribute to the

  13. Determining the relationship between sleep architecture, seizure variables and memory in patients with focal epilepsy.

    Science.gov (United States)

    Miller, Laurie A; Ricci, Monica; van Schalkwijk, Frank J; Mohamed, Armin; van der Werf, Ysbrand D

    2016-06-01

    Sleep has been shown to be important to memory. Both sleep and memory have been found to be abnormal in patients with epilepsy. In this study, we explored the effects that nocturnal epileptiform discharges and the presence of a hippocampal lesion have on sleep patterns and memory. Twenty-five patients with focal epilepsy who underwent a 24-hr ambulatory EEG also completed the Everyday Memory Questionnaire (EMQ). The EEG record was scored for length of time spent in the various sleep stages, time spent awake after sleep onset, and rapid eye movement (REM) latency. Of these sleep variables, only REM latency differed when the epilepsy patients were divided on the bases of either presence/absence of nocturnal discharges or presence/absence of a hippocampal lesion. In both cases, presence of the abnormality was associated with longer latency. Furthermore, longer REM latency was found to be a better predictor of EMQ score than either number of discharges or presence of a hippocampal lesion. Longer REM latency was associated with a smaller percentage of time spent in slow-wave sleep in the early part of the night and may serve as a particularly sensitive marker to disturbances in sleep architecture. (PsycINFO Database Record

  14. CLINICAL AND ELECTROENCEPHALOGRAPHIC CHARACTERISTICS OF IDIOPATHIC CHILDHOOD FOCAL EPILEPSY WITH CENTROTEMPORAL SPIKES

    Directory of Open Access Journals (Sweden)

    K. Yu. Mukhin

    2015-01-01

    Full Text Available Idiopathic childhood focal epilepsy with centrotemporal spikes, which is more known as rolandic epilepsy (RE, is age- and localization-related epilepsy with childhood onset, which is characterized mainly by short-lasting hemifacial and oropharyngeal seizures generally occurring when awakening or falling asleep, by the normal neurological status of patients, by specific electroencephalographic changes and complete arrest of seizures during therapy or when achieving puberty.RE is the most common epilepsy in childhood. Its prevalence is 21 per 100,000 healthy children. It is characterized by an onset that is clearly related to age. In 85 % of cases, RE occurs at 4–10 years of age with its peak at about 9 years. The clinical manifestations of this form of epilepsy are several types of seizures, such as oropharyngolaryngeal, hemifacial, faciobrachial, secondarily generalized convulsive, unilateral seizures with the possible development of short duration Todd’s paresis. Other types of seizures (absence, atonic, and myoclonic ones are uncharacteristic of RE. They may occur occasionally on aggravation resulting from the use of carbamazepine or oxcarbazepine or permanently on transformation into pseudo-Lennox syndrome. According to the definition, focal neurological symptoms and behavioral and intellectual disorders are absent in patients with RE. However, there have been recent observations suggesting that speech, cognitive, and behavioral disorders may occur (at the same time rarely in children with RE. Magnetic resonance imaging (MRI fails to reveal the abnormality in the vast majority of cases. The described MRI changes in nearly 10 % of the patients with RE are an incidental finding and irrelevant to the course of the disease. Valproate in small doses is a first-choice drug; if it is inefficient, levetiracetam, topiramate, or a combination of valproate and ethosuximide are administered. Sulthiame (ospolot as monotherapy is used in Germany

  15. Does sleep deprivation alter functional EEG networks in children with focal epilepsy?

    Directory of Open Access Journals (Sweden)

    Eric evan Diessen

    2014-04-01

    Full Text Available Electroencephalography (EEG recordings after sleep deprivation increase the diagnostic yield in patients suspected of epilepsy if the routine EEG remains inconclusive. Sleep deprivation is associated with increased interictal EEG abnormalities in patients with epilepsy, but the exact mechanism is unknown. In this feasibility study, we used a network analytical approach to provide novel insights into this clinical observation. The aim was to characterize the effect of sleep deprivation on interictal functional network organization using a unique dataset of paired routine and sleep deprivation recordings in patients and controls. We included twenty-one children referred to the first seizure clinic of our center with suspected new onset focal epilepsy in whom a routine interictal and a sleep deprivation EEG (SD-EEG were performed. Seventeen children, in whom the diagnosis of epilepsy was excluded, served as controls. For both time points weighted functional networks were constructed based on interictal artifact free time-series. Routine and sleep deprivation networks were characterized at different frequency bands using minimum spanning tree (MST measures (leaf number and diameter and classical measures of integration (path length and segregation (clustering coefficient. A significant interaction was found for leaf number and diameter between patients and controls after sleep deprivation: patients showed a shift towards a more path-like MST network whereas controls showed a shift towards a more star-like MST network. This shift in network organization after sleep deprivation in patients is in accordance with previous studies showing a more regular network organization in the ictal state and might relate to the increased epileptiform abnormalities found in patients after sleep deprivation. Larger studies are needed to verify these results. Finally, MST measures were more sensitive in detecting network changes as compared to the classical measures of

  16. The diminishing dominance of the dominant hemisphere: Language fMRI in focal epilepsy.

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    Tailby, Chris; Abbott, David F; Jackson, Graeme D

    2017-01-01

    "Which is the dominant hemisphere?" is a question that arises frequently in patients considered for neurosurgery. The concept of the dominant hemisphere implies uniformity of language lateralisation throughout the brain. It is increasingly recognised that this is not the case in the healthy control brain, and it is especially not so in neurological diseases such as epilepsy. In the present work we adapt our published objective lateralisation method (based on the construction of laterality curves) for use with sub-lobar cortical, subcortical and cerebellar regions of interest (ROIs). We apply this method to investigate regional lateralisation of language activation in 12 healthy controls and 18 focal epilepsy patients, using three different block design language fMRI paradigms, each tapping different aspects of language processing. We compared lateralisation within each ROI across tasks, and investigated how the quantity of data collected affected the ability to robustly estimate laterality across ROIs. In controls, lateralisation was stronger, and the variance across individuals smaller, in cortical ROIs, particularly in the Inferior Frontal (Broca) region. Lateralisation within temporal ROIs was dependent on the nature of the language task employed. One of the healthy controls was left lateralised anteriorly and right lateralised posteriorly. Consistent with previous work, departures from normality occurred in ~ 15-50% of focal epilepsy patients across the different ROIs, with atypicality most common in the Lateral Temporal (Wernicke) region. Across tasks and ROIs the absolute magnitude of the laterality estimate increased and its across participant variance decreased as more cycles of task and rest were included, stabilising at ~ 4 cycles (~ 4 min of data collection). Our data highlight the importance of considering language as a complex task where lateralisation varies at the subhemispheric scale. This is especially important for presurgical planning for

  17. The delta between postoperative seizure freedom and persistence: Automatically detected focal slow waves after epilepsy surgery.

    Science.gov (United States)

    Schönherr, Margit; Stefan, Hermann; Hamer, Hajo M; Rössler, Karl; Buchfelder, Michael; Rampp, Stefan

    2017-01-01

    In this study, we use a novel automated method for localization and quantitative comparison of magnetoencephalographic (MEG) delta activity in patients with and without recurrent seizures after epilepsy surgery as well as healthy controls. We identified the generators of delta activity by source location in frequency domain between 1 and 4 Hz in spontaneous MEG data. Comparison with healthy control subjects by z-transform emphasized relative changes of activation in patients. The individual results were compared to spike localizations and statistical group analysis was performed. Additionally, MEG results were compared to 1-4 Hz activity in invasive EEG (iEEG) in two patients, in whom this data was available. Patients with recurrent seizures exhibited significantly increased focal MEG delta activity both in comparison to healthy controls and seizure free patients. This slow activity showed a correlation to interictal epileptic activity and was not explained by consequences of the resection alone. In two patients with iEEG, iEEG analysis was concordant with the MEG findings. The quantity of delta activity could be used as a diagnostic marker for recurrent seizures. The close relation to epileptic spike localizations and the resection volume of patients with successful second surgery imply involvement in seizure recurrence. This initial evidence suggests a potential application in the planning of second epilepsy surgery.

  18. Drawing from memory in focal epilepsy: a cognitive and neural perspective.

    Science.gov (United States)

    Giovagnoli, Anna R; Bell, Brian

    2011-03-01

    This study provides evidence of non-verbal cognitive functioning in temporal (TLE) and frontal lobe epilepsy (FLE) patients by exploring the mechanisms and neural correlates of drawing abilities. Sixty-six patients with left (n=32) or right TLE (n=34), 30 patients with left (n=18) or right FLE (n=12), and 30 healthy subjects were compared. The Drawing from Memory (DfM) test required participants to design 16 living or non-living items; the total score was the sum of all scores blindly provided by three judges who had to identify the drawings. The verbal and visual Pyramid and Palm Trees Test (PPTT), Raven Colored Progressive Matrices (Raven CPM), Cube Analysis, Token Test, Word Fluency, Card Classification, and Rey Complex Figure Test Copy trial (Rey CFC) assessed different verbal and non-verbal functions. Non-parametric statistics indicated that, with respect to controls, both TLE groups and the left FLE patients had significantly lower DfM scores. In the TLE group, hierarchical regression analyses revealed that the DfM score was predicted by the Raven CPM and PPTT scores, while, in the FLE group, it was predicted by the Rey CFC. Thus, drawing abilities may be impaired by TLE or FLE owing to different mechanisms that involve semantic or executive abilities. Implying cooperation between temporal and frontal areas that support these functions, DfM may be a sensitive index of integrity of cortical areas or neural pathways damaged by focal epilepsy.

  19. Standard magnetic resonance imaging is inadequate for patients with refractory focal epilepsy.

    NARCIS (Netherlands)

    Oertzen, J. von; Urbach, H.; Jungbluth, S.; Kurthen, M.; Reuber, M.; Fernandez, G.S.E.; Elger, C.E.

    2002-01-01

    OBJECTIVES: Patients with intractable epilepsy may benefit from epilepsy surgery especially if they have a radiologically demonstrable cerebral lesion. Dedicated magnetic resonance imaging (MRI) protocols as performed at epilepsy surgery centres can detect epileptogenic abnormalities with great

  20. Standard magnetic resonance imaging is inadequate for patients with refractory focal epilepsy.

    NARCIS (Netherlands)

    Oertzen, J. von; Urbach, H.; Jungbluth, S.; Kurthen, M.; Reuber, M.; Fernandez, G.S.E.; Elger, C.E.

    2002-01-01

    OBJECTIVES: Patients with intractable epilepsy may benefit from epilepsy surgery especially if they have a radiologically demonstrable cerebral lesion. Dedicated magnetic resonance imaging (MRI) protocols as performed at epilepsy surgery centres can detect epileptogenic abnormalities with great sens

  1. Psychiatric profiles and patterns of cerebral blood flow in focal epilepsy: interactions between depression, obsessionality, and perfusion related to the laterality of the epilepsy.

    Science.gov (United States)

    Schmitz, E B; Moriarty, J; Costa, D C; Ring, H A; Ell, P J; Trimble, M R

    1997-01-01

    OBJECTIVES: In a study of patients with focal epilepsy the hypothesis was explored that different measurements of psychopathology are related to specific distributions of cerebral perfusion. METHODS: Forty patients had SPECT performed with (99m)Tc-HMPAO. In addition, patients received a psychiatric evaluation with the following psychiatric questionnaires: the Beck depression inventory, the Leyton obsessionality inventory, the Bear-Fedio questionnaire, and the social stress and support interview. Patients were analysed in two groups according to the laterality of the epilepsy. Nine patients were excluded based on poor quality scans (n = 1), unlateralised epilepsy (n = 4), and left or ambidextrous handedness (n = 4). RESULTS: There were no overall differences between the left and right epilepsy groups on measures of psychopathology. Associations were found between scores on some of the rating scales and regional cerebral blood flow. Specifically, for patients with left sided epilepsy, higher scores on the Beck depression inventory were associated with lower contralateral temporal and bilateral frontal perfusion, and higher occipital perfusion. For patients with right sided epilepsy higher scores on the Leyton obsessionality inventory were associated with increased perfusion in ipsilateral temporal, thalamic, and basal ganglia regions and bilateral frontal regions. CONCLUSION: The results do not support the notion that lateralised epileptogenic lesions are associated with different levels of depression, obsessionality, or personality traits. They support the view that certain psychopathological symptom patterns are related to specific regional dysfunctions depending on the laterality of a hemispheric lesion. PMID:9153601

  2. White matter abnormalities revealed by DTI correlate with interictal grey matter FDG-PET metabolism in focal childhood epilepsies.

    Science.gov (United States)

    Lippé, Sarah; Poupon, Cyril; Cachia, Arnaud; Archambaud, Frédérique; Rodrigo, Sébastian; Dorfmuller, Georg; Chiron, Catherine; Hertz-Pannier, Lucie

    2012-12-01

    For patients with focal epilepsy scheduled for surgery, including MRI-negative cases, (18)FDG-PET was shown to disclose hypometabolism in the seizure onset zone. However, it is not clear whether grey matter hypometabolism is informative of the integrity of the surrounding white matter cerebral tissue. In order to study the relationship between metabolism of the seizure onset zone grey matter and the integrity of the surrounding white matter measured by diffusion tensor imaging (DTI), we performed a monocentric prospective study (from 2006 to 2009) in 15 children with pharmacoresistant focal epilepsy, suitable for interictal (18)FDG-PET, T1-, T2-, FLAIR sequence MRI and DTI. Children had either positive or negative MRI (eight with symptomatic and seven with cryptogenic epilepsies, respectively). Seven children subsequently underwent surgery. Standardised uptake values of grey matter PET metabolism were compared with DTI indices (fractional anisotropy [FA], apparent diffusion coefficient [ADC], parallel diffusion coefficient [PDC], and transverse diffusion coefficient [TDC]) in grey matter within the seizure onset zone and adjacent white matter, using regions of interest automatically drawn from individual sulcal and gyral parcellation. Hypometabolism correlated positively with white matter ADC, PDC, and TDC, and negatively with white matter FA. In the cryptogenic group of children, hypometabolism correlated positively with white matter ADC. Our results demonstrate a relationship between abnormalities of grey matter metabolism in the seizure onset zone and adjacent white matter structural alterations in childhood focal epilepsies, even in cryptogenic epilepsy. This relationship supports the hypothesis that microstructural alterations of the white matter are related to epileptic networks and has potential implications for the evaluation of children with MRI-negative epilepsy.

  3. A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia

    Science.gov (United States)

    Zhang, Yujia; Kusumoto, Hirofumi; Zhang, Jin; Chen, Wenjuan; XiangWei, Wenshu; Shaulsky, Gil H.; Hu, Chun; Traynelis, Stephen F.; Yuan, Hongjie; Jiang, Yuwu

    2017-01-01

    Objective N-methyl-D-aspartate receptors (NMDAR) subunit GRIN2A/GluN2A mutations have been identified in patients with various neurological diseases, such as epilepsy and intellectual disability / developmental delay (ID/DD). In this study, we investigated the phenotype and underlying molecular mechanism of a GRIN2A missense mutation identified by next generation sequencing on idiopathic focal epilepsy using in vitro electrophysiology. Methods Genomic DNA of patients with epilepsy and ID/DD were sequenced by targeted next-generation sequencing within 300 genes related to epilepsy and ID/DD. The effects of one missense GRIN2A mutation on NMDAR function were evaluated by two-electrode voltage clamp current recordings and whole cell voltage clamp current recordings. Results We identified one de novo missense GRIN2A mutation (Asp731Asn, GluN2A(D731N)) in a child with unexplained epilepsy and DD. The D731N mutation is located in a portion of the agonist-binding domain (ABD) in the GluN2A subunit, which is the binding pocket for agonist glutamate. This residue in the ABD is conserved among vertebrate species and all other NMDAR subunits, suggesting an important role in receptor function. The proband shows developmental delay as well as EEG-confirmed seizure activity. Functional analyses reveal that the GluN2A(D731N) mutation decreases glutamate potency by over 3,000-fold, reduces amplitude of current response, shortens synaptic-like response time course, and decreases channel open probability, while enhancing sensitivity to negative allosteric modulators, including extracellular proton and zinc inhibition. The combined effects reduce NMDAR function. Significance We identified a de novo missense mutation in the GRIN2A gene in a patient with childhood focal epilepsy and acquired epileptic aphasia. The mutant decreases NMDAR activation suggesting NMDAR hypofunction may contribute to the epilepsy pathogenesis. PMID:28182669

  4. In vivo inhibition of incorporation of (U-/sup 14/C)glucose into proteins in experimental focal epilepsy

    Energy Technology Data Exchange (ETDEWEB)

    Coutinho-Netto, J.; Boyar, M.M.; Abdul-Ghani, A.S.; Bradford, H.F.

    1982-08-01

    The in vivo incorporation of (/sup 14/C) from (U-/sup 14/C)-glucose into rat brain proteins from different cortical areas was examined in three different experimental focal epilepsies: cobalt, freeze-lesions, and tityustoxin. When (U-/sup 14/C)-glucose was injected intraperitoneally into awake and unrestrained animals with marked signs of epileptic hyperactivity, the inhibition of incorporation of (/sup 14/C)-amino acids into trichloracetic acid (TCA)-insoluble proteins was highest in the focal (sensorimotor) area when compared with distant regions (approx. 60%), but less when compared with the contralateral (sensorimotor) region (approx. 23%). Greatly decreased incorporation caused by both cobalt and freeze-lesion-induced epilepsies was also observed in the contralateral area when a comparison was made with distant regions (approx. 50%), but there were no significant differences in protein-specific radioactivity between the different distant areas.

  5. Epilepsy

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    2005267 Expression and their clinical significances of five multidrug resistance gene products in refractory epilepsy brain tissues. XIAO Zheng (肖争), et al. Dept Neurol,Lab, Affili Hosp, Chongqing Med Univ, Chongqing 400016, Chin J Neurol, 2004;37(6) 500-503. Objective: To investigate the expression and their clinical significances of five multidrug resistance gene products in human epileptogenic pathologies. Methods: 17 refractory epilepsy patients were divided into two groups: long course group (≥10 years) and short course group (<10 years). The expression

  6. Epilepsy

    Energy Technology Data Exchange (ETDEWEB)

    Fisher, R.S.; Frost, J.J. (Johns Hopkins Univ., Baltimore, MD (USA))

    1991-04-01

    As surgical treatments for adult and pediatric forms of epilepsy have become more refined, methods for noninvasive localization of epileptogenic foci have become increasingly important. Detection of focal brain metabolic or flow abnormalities is now well recognized as an essential step in the presurgical evaluation of many patients with epilepsy. Positron emission tomography (PET) scanning is most beneficial when used in the context of the total clinical evaluation of patients, including scalp EEG, invasive EEG, neuropsychologic testing, etc. Metabolic PET studies also give insight into pathophysiologic mechanisms of epilepsy. The dynamic nature of the interictal hypometabolism observed with 18(F)FDG in some patients suggests that excitatory or inhibitory neurotransmitters and their receptors may be involved. An exciting current application of PET scanning is the use of tracers for neurotransmitter receptors in the study of epilepsy patients. Mu and non-mu opiate receptors have been extensively studied and are beginning to give new insights into this disorder. Increased labeling of mu receptors in temporal neocortex using 11C-carfentanil has been demonstrated and, in some patients, supplements the clinical localization information from 18(F)FDG studies. Increased mu opiate receptor number or affinity is thought to play a role in anticonvulsant mechanisms. Specificity of increased mu receptors is supported by the absence of significant changes in non-mu opiate receptors. Other brain receptors are also of interest for future studies, particularly those for excitatory neurotransmitters. Combined studies of flow, metabolism, and neuroreceptors may elucidate the factors responsible for initiation and termination of seizures, thus improving patient treatment.95 references.

  7. Cognitive impact in children with “benign” childhood focal epilepsy with centrotemporal spikes

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    Natalie Helene van Cleef Banaskiwitz

    Full Text Available Abstract Background Cognitive alterations are associated with benign childhood focal epilepsy with centrotemporal spikes (BCECTS including aspects of executive functions. Objectives This study presents the performance profile on attention and executive function tests of fifty-eight children (BCECTS, n = 30 and controls, n = 28 aged 8-13 years. Methods The following tools were employed: Vocabulary and Block Design subtests from the Wechsler Intelligence Scale for Children III, Stroop Test, Modified Card Sorting Test, Controlled Oral Word Association – FAS and Tower of London. Results Children with BCECTS presented average IQ measure, although their performance was statistically worse when compared to the control group. Children with BCECTS showed significantly lower performance compared to the control group in the following variables: total number of recollected words on the oral fluency test, total number of categories, categorization effect and total number of errors in MCST; and execution time for the Stroop Test Card 1. After controlling for the IQ effect, the total number of errors in the MCST did not show any significant difference between the groups. Discussion Children with BCECTS showed lower performance in attention and executive functions when compared to healthy children. The results suggest that the concept of “benign” BCECTS should be reconsidered.

  8. Focal Cortical Dysplasia Type IIB and Human Papillomavirus

    Directory of Open Access Journals (Sweden)

    J. Gordon Millichap

    2013-03-01

    Full Text Available Researchers at Temple University School of Medicine, Philadelphia, PA tested the hypothesis that human papillomavirus type 16 oncoprotein E6 (HPV16 E6 is present in human focal cortical dysplasia type IIB (FCDIIB specimens.

  9. Optimising EEG-fMRI for Localisation of Focal Epilepsy in Children.

    Directory of Open Access Journals (Sweden)

    Maria Centeno

    Full Text Available Early surgical intervention in children with drug resistant epilepsy has benefits but requires using tolerable and minimally invasive tests. EEG-fMRI studies have demonstrated good sensitivity for the localization of epileptic focus but a poor yield although the reasons for this have not been systematically addressed. While adults EEG-fMRI studies are performed in the "resting state"; children are commonly sedated however, this has associated risks and potential confounds. In this study, we assessed the impact of the following factors on the tolerability and results of EEG-fMRI in children: viewing a movie inside the scanner; movement; occurrence of interictal epileptiform discharges (IED; scan duration and design efficiency. This work's motivation is to optimize EEG-fMRI parameters to make this test widely available to paediatric population.Forty-six children with focal epilepsy and 20 controls (6-18 underwent EEG-fMRI. For two 10 minutes sessions subjects were told to lie still with eyes closed, as it is classically performed in adult studies ("rest sessions", for another two sessions, subjects watched a child friendly stimulation i.e. movie ("movie sessions". IED were mapped with EEG-fMRI for each session and across sessions. The resulting maps were classified as concordant/discordant with the presumed epileptogenic focus for each subject.Movement increased with scan duration, but the movie reduced movement by ~40% when played within the first 20 minutes. There was no effect of movie on the occurrence of IED, nor in the concordance of the test. Ability of EEG-fMRI to map the epileptogenic region was similar for the 20 and 40 minute scan durations. Design efficiency was predictive of concordance.A child friendly natural stimulus improves the tolerability of EEG-fMRI and reduces in-scanner movement without having an effect on IED occurrence and quality of EEG-fMRI maps. This allowed us to scan children as young as 6 and obtain localising

  10. Optimising EEG-fMRI for Localisation of Focal Epilepsy in Children.

    Science.gov (United States)

    Centeno, Maria; Tierney, Tim M; Perani, Suejen; Shamshiri, Elhum A; StPier, Kelly; Wilkinson, Charlotte; Konn, Daniel; Banks, Tina; Vulliemoz, Serge; Lemieux, Louis; Pressler, Ronit M; Clark, Christopher A; Cross, J Helen; Carmichael, David W

    2016-01-01

    Early surgical intervention in children with drug resistant epilepsy has benefits but requires using tolerable and minimally invasive tests. EEG-fMRI studies have demonstrated good sensitivity for the localization of epileptic focus but a poor yield although the reasons for this have not been systematically addressed. While adults EEG-fMRI studies are performed in the "resting state"; children are commonly sedated however, this has associated risks and potential confounds. In this study, we assessed the impact of the following factors on the tolerability and results of EEG-fMRI in children: viewing a movie inside the scanner; movement; occurrence of interictal epileptiform discharges (IED); scan duration and design efficiency. This work's motivation is to optimize EEG-fMRI parameters to make this test widely available to paediatric population. Forty-six children with focal epilepsy and 20 controls (6-18) underwent EEG-fMRI. For two 10 minutes sessions subjects were told to lie still with eyes closed, as it is classically performed in adult studies ("rest sessions"), for another two sessions, subjects watched a child friendly stimulation i.e. movie ("movie sessions"). IED were mapped with EEG-fMRI for each session and across sessions. The resulting maps were classified as concordant/discordant with the presumed epileptogenic focus for each subject. Movement increased with scan duration, but the movie reduced movement by ~40% when played within the first 20 minutes. There was no effect of movie on the occurrence of IED, nor in the concordance of the test. Ability of EEG-fMRI to map the epileptogenic region was similar for the 20 and 40 minute scan durations. Design efficiency was predictive of concordance. A child friendly natural stimulus improves the tolerability of EEG-fMRI and reduces in-scanner movement without having an effect on IED occurrence and quality of EEG-fMRI maps. This allowed us to scan children as young as 6 and obtain localising information without

  11. Aplicación del nuevo esquema diagnóstico en niños con epilepsias focales idiopáticas Application of the new diagnostic scheme for children with idiopathic focal epilepsies

    Directory of Open Access Journals (Sweden)

    Albia J. Pozo Alonso

    2005-06-01

    Full Text Available Nos propusimos con este trabajo aplicar, en 101 niños con epilepsias focales idiopáticas, el nuevo esquema diagnóstico propuesto para personas con crisis epilépticas y epilepsia, correspondiente al año 2001. La edad promedio de inicio de la epilepsia focal fue de 6,4 años. Las crisis epilépticas focales más frecuentes fueron las secundariamente generalizadas (35,6 %, seguidas por las crisis motoras (30,7 % y las sensoriales (20,8 %. Entre las crisis focales motoras predominaron las de signos motores clónicos elementales (48,4 %, y a continuación las crisis motoras tónicas asimétricas (35,5 %. En las crisis focales sensoriales predominaron las crisis con síntomas elementales (95,2 %. El síndrome epiléptico que se identificó con más frecuencia fue la epilepsia benigna de la infancia con puntas centrotemporales (10,9 %, seguido por las crisis infantiles benignas de la infancia no familiares (5 %. El trazado electroencefalográfico inicial interictal anormal más frecuente fue el focal (36,4 %. La aplicación de este nuevo esquema diagnóstico resultó útil en niños con epilepsias focales idiopáticasThe aim of this paper was to apply in 101 children with focal idiopathic epilepsies, the new diagnostic scheme proposed for persons with epilepsy seizures and epilepsy in 2001. The average age at the onset of focal epilepsy was 6.4 years old. The most frequent focal epileptic seizures were the secondarily generalized (35.6 %, followed by the motor seizures (30.7 % and the sensory seizures (20.8 %. Among the focal motor seizures, it was observed a predominance of those of elementary clonic motor signs (48.4 % and of the asymmetric tonic motor seizures (35.5 %. As regards the focal sensory seizures, there was a prevalence of the seizures with elementary symptoms (95.2 %. The most commonly identified epileptic syndrome was the infantile benign epilepsy with centrotemporal points (10.9 %, followed by the non-family infantile benign

  12. Real-life memory and spatial navigation in patients with focal epilepsy: ecological validity of a virtual reality supermarket task.

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    Grewe, P; Lahr, D; Kohsik, A; Dyck, E; Markowitsch, H J; Bien, C G; Botsch, M; Piefke, M

    2014-02-01

    Ecological assessment and training of real-life cognitive functions such as visual-spatial abilities in patients with epilepsy remain challenging. Some studies have applied virtual reality (VR) paradigms, but external validity of VR programs has not sufficiently been proven. Patients with focal epilepsy (EG, n=14) accomplished an 8-day program in a VR supermarket, which consisted of learning and buying items on a shopping list. Performance of the EG was compared with that of healthy controls (HCG, n=19). A comprehensive neuropsychological examination was administered. Real-life performance was investigated in a real supermarket. Learning in the VR supermarket was significantly impaired in the EG on different VR measures. Delayed free recall of products did not differ between the EG and the HCG. Virtual reality scores were correlated with neuropsychological measures of visual-spatial cognition, subjective estimates of memory, and performance in the real supermarket. The data indicate that our VR approach allows for the assessment of real-life visual-spatial memory and cognition in patients with focal epilepsy. The multimodal, active, and complex VR paradigm may particularly enhance visual-spatial cognitive resources.

  13. Focal epithelial hyperplasia caused by human papillomavirus 13.

    Science.gov (United States)

    Saunders, Natasha R; Scolnik, Dennis; Rebbapragada, Anuradha; Koelink, Eric; Craw, Lindsey; Roth, Sherryn; Aronson, Leya; Perusini, Stephen; Silverman, Michael S

    2010-06-01

    Focal epithelial hyperplasia is a benign, papulo-nodular disease of the oral cavity. It is rare, affecting primarily Native American populations during childhood. It is closely associated with human papillomavirus 13 and 32. This report describes the diagnosis of 2 cases of focal epithelial hyperplasia in children from southern Guyana. The diagnosis was made using clinical criteria, polymerase chain reaction, and DNA sequencing.

  14. Cortical silent period in a patient with focal epilepsy and Parry-Romberg syndrome.

    Science.gov (United States)

    Aktekin, Berrin; Oguz, Yurttaş; Aydin, Hülya; Senol, Utku

    2005-03-01

    Progressive facial hemiatrophy (PFH), Parry-Romberg syndrome, is a rare disorder frequently associated with epilepsy. We describe a 28-year-old man who had PFH and partial epilepsy that was easily controlled with antiepileptic drugs. In accordance with this patient's benign course of seizures, the cortical silent period was prolonged in the symptomatic hemisphere. This finding may represent compensatory interictal mechanisms in epilepsy.

  15. Spatiotemporal mapping of interictal epileptiform discharges in human absence epilepsy: A MEG study

    NARCIS (Netherlands)

    Rozendaal, Y.J.W.; Luijtelaar, E.L.J.M. van; Ossenblok, P.P.W.

    2016-01-01

    PURPOSE: Although absence epilepsy is considered to be a prototypic type of generalized epilepsy, it is still under debate whether generalized 3 Hz spike-and-wave discharges (SWDs) might have a cortical focal origin. Here it is investigated whether focal interictal epileptiform discharges (IEDs),

  16. Measurements of synchronization between interacting networks in a model of focal epilepsy

    Science.gov (United States)

    Feldt, S.; Osterhage, H.; Mormann, F.; Lehnertz, K.; Zochowski, M.

    2007-03-01

    We use a simple model of two interacting networks of neurons to explain a seemingly paradoxical result observed in epileptic patients indicating that the level of phase synchrony drops below normal levels during the preictal state. We show that the transition from the interictal to preictal and then to ictal state may be divided into separate dynamical regimes: the formation of slow oscillatory activity observed during the normal (interictal) period, structureless activity during the preictal period when the two networks have different properties, and bursting dynamics driven by the network corresponding to the focus. We thus hypothesize that the beginning of the preictal period marks the beginning of the transition of the focal network from normal activity towards seizing and compare our results to measurements of the preictal length in human patients.

  17. Characterization of functional and structural integrity in experimental focal epilepsy: reduced network efficiency coincides with white matter changes.

    Directory of Open Access Journals (Sweden)

    Willem M Otte

    Full Text Available BACKGROUND: Although focal epilepsies are increasingly recognized to affect multiple and remote neural systems, the underlying spatiotemporal pattern and the relationships between recurrent spontaneous seizures, global functional connectivity, and structural integrity remain largely unknown. METHODOLOGY/PRINCIPAL FINDINGS: Here we utilized serial resting-state functional MRI, graph-theoretical analysis of complex brain networks and diffusion tensor imaging to characterize the evolution of global network topology, functional connectivity and structural changes in the interictal brain in relation to focal epilepsy in a rat model. Epileptic networks exhibited a more regular functional topology than controls, indicated by a significant increase in shortest path length and clustering coefficient. Interhemispheric functional connectivity in epileptic brains decreased, while intrahemispheric functional connectivity increased. Widespread reductions of fractional anisotropy were found in white matter regions not restricted to the vicinity of the epileptic focus, including the corpus callosum. CONCLUSIONS/SIGNIFICANCE: Our longitudinal study on the pathogenesis of network dynamics in epileptic brains reveals that, despite the locality of the epileptogenic area, epileptic brains differ in their global network topology, connectivity and structural integrity from healthy brains.

  18. Early clinical experience with lacosamide as adjunctive therapy in patients with refractory focal epilepsy and nocturnal seizures.

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    García-Morales, Irene; Delgado, Rafael Toledano; Falip, Mercé; Campos, Dulce; García, María Eugenia; Gil-Nagel, Antonio

    2011-12-01

    This retrospective study reports the early experience with lacosamide (LCM) as adjunctive therapy in Spanish patients with refractory focal epilepsy. Sixty patients (mean age 38.3 years, 54% women, mean epilepsy duration 27.2 years, mean seizure rate 9.7/month, and 28% with mainly nocturnal seizures) taking ≥2 antiepileptic drugs (mean 2.2) were included. LCM maintenance doses were 200, 300, 400, and 500mg/day in 31, 16, 10, and 3 patients, respectively. Patients were followed up for 13-24 months. Twenty-eight patients (47%) reported a ≥50% reduction in seizure frequency. A ≥50% reduction in seizure frequency was reported by 65% and 40% of patients in the nocturnal seizure and diurnal seizure subgroups, respectively (p>0.05). Of the 28 responders, 2 achieved stable periods of seizure freedom of 6 and 11 months after starting LCM. Twenty patients (33%) reported drug-related adverse events (AEs); the most common was dizziness (16 patients). LCM was withdrawn in 8 patients (13%). There were no serious AEs. These results support the efficacy and safety of adjunctive LCM in patients with partial-onset seizures. 2011 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  19. Surgically intractable epilepsy associated with focal cortical dysplasia and congenital cutaneous hemangiomas.

    Science.gov (United States)

    Brzezinski, Anna; Cruz, Vincent B; Prayson, Richard A

    2014-11-01

    We describe a 6-month-old girl with medically intractable seizures, multiple congenital hemangiomas, and developmental delay. The patient underwent two surgical resections. Pathological findings at both the first and second resections were consistent with focal cortical dysplasia. The literature was reviewed on focal cortical dysplasia associated with cutaneous hemangiomas. Copyright © 2014 Elsevier Ltd. All rights reserved.

  20. Epilepsy

    Science.gov (United States)

    ... sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. The epilepsies have many ... sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. The epilepsies have many ...

  1. Epilepsy

    Science.gov (United States)

    Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters ... may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, ...

  2. Epilepsy

    Science.gov (United States)

    ... of epilepsy medicines Use of alcohol or other recreational drugs Other considerations: People with epilepsy should wear medical ... panel Dementia Diabetes Encephalitis Head injury - first aid HIV/AIDS Meningitis Neurosyphilis Phenylketonuria Prerenal azotemia Seizures Stroke ...

  3. Ictal Asystole in Focal Epilepsy: To Pace or Not to Pace?

    Science.gov (United States)

    Newey, Christopher R; Sarwal, Aarti

    2015-10-01

    Ictal bradyarrhythmias are rare episodes occurring in patients with or without a past cardiac history. These episodes go unnoticed unless the patient is monitored on simultaneous video-electroencephalogram and 1-lead electrocardiogram. Recognizing ictal bradyarrhythmias is important, since episodes may predispose patients to sudden, unexplained death in epilepsy. We present 2 cases of ictal asystole in patients with right temporal lobe epilepsy. The first patient had seizures refractory to medical therapy and received a pacemaker. The seizures in the second patient responded well to antiepileptic medication, and a pacemaker was deferred. These cases highlight the differing cardiovascular treatment options for ictal asystole.

  4. Systems biology of human epilepsy applied to patients with brain tumors.

    Science.gov (United States)

    Mittal, Sandeep; Shah, Aashit K; Barkmeier, Daniel T; Loeb, Jeffrey A

    2013-12-01

    Epilepsy is a disease of recurrent seizures that can be associated with a wide variety of acquired and developmental brain lesions. Current medications for patients with epilepsy can suppress seizures; they do not cure or modify the underlying disease process. On the other hand, surgical removal of focal brain regions that produce seizures can be curative. This surgical procedure can be more precise with the placement of intracranial recording electrodes to identify brain regions that generate seizure activity as well as those that are critical for normal brain function. The detail that goes into these surgeries includes extensive neuroimaging, electrophysiology, and clinical data. Combined with precisely localized tissues removed, these data provide an unparalleled opportunity to learn about the interrelationships of many "systems" in the human brain not possible in just about any other human brain disorder. Herein, we describe a systems biology approach developed to study patients who undergo brain surgery for epilepsy and how we have begun to apply these methods to patients whose seizures are associated with brain tumors. A central goal of this clinical and translational research program is to improve our understanding of epilepsy and brain tumors and to improve diagnosis and treatment outcomes of both.

  5. Epilepsi

    DEFF Research Database (Denmark)

    Sabers, Anne; Kjær, Troels W

    2014-01-01

    Epilepsy affects around 33,000 people in Denmark. The classification of the epilepsies is currently under revision and the clinical course of the disease depends on the underlying aetiology. Diagnostic evaluation includes EEG and often long-term video-EEG monitoring to ensure the diagnosis and clas......-sification. More than two thirds of patients with epilepsy can obtain complete seizure control. The remainders, counting around 12.000 patients in Denmark, having medical refractory epilepsy should be considered for other treatment options; epilepsy surgery or other non-pharmacological treatment....

  6. The delta between postoperative seizure freedom and persistence: Automatically detected focal slow waves after epilepsy surgery

    Directory of Open Access Journals (Sweden)

    Margit Schönherr

    2017-01-01

    Significance: The quantity of delta activity could be used as a diagnostic marker for recurrent seizures. The close relation to epileptic spike localizations and the resection volume of patients with successful second surgery imply involvement in seizure recurrence. This initial evidence suggests a potential application in the planning of second epilepsy surgery.

  7. Determining the relationship between sleep architecture, seizure variables and memory in patients with focal epilepsy

    NARCIS (Netherlands)

    Miller, Laurie A; Ricci, Monica; van Schalkwijk, Frank J; Mohamed, Armin; van der Werf, Ysbrand D

    2016-01-01

    Sleep has been shown to be important to memory. Both sleep and memory have been found to be abnormal in patients with epilepsy. In this study, we explored the effects that nocturnal epileptiform discharges and the presence of a hippocampal lesion have on sleep patterns and memory. Twenty-five patien

  8. Encephalopathy with status epilepticus during sleep (ESES) induced by oxcarbazepine in idiopathic focal epilepsy in childhood

    DEFF Research Database (Denmark)

    Pavlidis, Elena; Rubboli, Guido; Nikanorova, Marina

    2015-01-01

    , carbamazepine and phenobarbital have been reported. We describe a child with benign epilepsy with centrotemporal spikes (BECTS) in whom treatment with oxcarbazepine (OXC) induced ESES. The patient was studied through repeated clinical-neuropsychological evaluations and 24-hour EEG recordings. He was treated...

  9. Global and focal aspects of absence epilepsy: The contribution of genetic models

    NARCIS (Netherlands)

    Luijtelaar, E.L.J.M. van; Sitnikova, E.Y.

    2006-01-01

    The cortico-reticular theory of absence epilepsy explains the origin of the bilateral generalized spike-wave discharges (SWDs) characterizing absence seizures via a subcortical pacemaker that is responsible for both normal sleep spindles and pathological SWDs. This pacemaker is the reticular

  10. Sequential motor task (Luria's Fist-Edge-Palm Test in children with benign focal epilepsy of childhood with centrotemporal spikes

    Directory of Open Access Journals (Sweden)

    Carmen Silvia Molleis Galego Miziara

    2013-06-01

    Full Text Available This study evaluated the sequential motor manual actions in children with benign focal epilepsy of childhood with centrotemporal spikes (BECTS and compares the results with matched control group, through the application of Luria's fist-edge-palm test. The children with BECTS underwent interictal single photon emission computed tomography (SPECT and School Performance Test (SPT. Significant difference occurred between the study and control groups for manual motor action through three equal and three different movements. Children with lower school performance had higher error rate in the imitation of hand gestures. Another factor significantly associated with the failure was the abnormality in SPECT. Children with BECTS showed abnormalities in the test that evaluated manual motor programming/planning. This study may suggest that the functional changes related to epileptiform activity in rolandic region interfere with the executive function in children with BECTS.

  11. TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.

    Science.gov (United States)

    Afawi, Zaid; Mandelstam, Simone; Korczyn, Amos D; Kivity, Sara; Walid, Simri; Shalata, Adel; Oliver, Karen L; Corbett, Mark; Gecz, Jozef; Berkovic, Samuel F; Jackson, Graeme D

    2013-07-01

    We describe the clinical and radiological features of a family with a homozygous mutation in TBC1D24. The phenotype comprised onset of focal seizures at 2 months with prominent eye-blinking, facial and limb jerking with an oral sensory aura. These were controllable with medication but persisted into adult life. Associated features were mild to moderate intellectual disability and cerebellar features. MRI showed subtle cortical thickening with cerebellar atrophy and high signal confined to the ansiform lobule. The disorder is allelic with familial infantile myoclonic epilepsy, where intellect and neurologic examination are normal, highlighting the phenotypic variation with mutations of TBC1D24. Copyright © 2013 Elsevier B.V. All rights reserved.

  12. Canine versus human epilepsy: are we up to date?

    Science.gov (United States)

    Uriarte, A; Maestro Saiz, I

    2016-03-01

    In this paper we analyse and compare features of canine and human epilepsy and we suggest new tools for better future understanding of canine epilepsy. The prevalence of epileptic seizures in dogs ranges between 0.5% and 5.7% and between 1% and 3% in the human population. Studies on human epilepsy provide a ready-made format for classification, diagnosis and treatment in veterinary epilepsy. Human studies highlight the value of a thorough seizure classification. Nevertheless, a matter of concern in canine epilepsy is the limited information regarding seizure description and classification because of the lack of EEG-video recording. Establishment of a consensus protocol for ambulatory home video-recording in dogs who suffer from epilepsy, mainly considering indications, duration of monitoring, the sufficient essential training for an optimal interpretation of ictal semiology and the methodology of recordings is needed. The ultimate goal is that the information gathered by these videos will be analysed to describe the epileptic seizures thoroughly, recognize patterns and move towards a better understanding and therefore classification of canine epileptic seizures.

  13. Two-year real-world experience with perampanel in patients with refractory focal epilepsy: Austrian data

    Science.gov (United States)

    Rohracher, Alexandra; Kalss, Gudrun; Leitinger, Markus; Granbichler, Claudia; Deak, Ildiko; Dobesberger, Judith; Kuchukhidze, Giorgi; Thomschewski, Aljoscha; Höfler, Julia; Trinka, Eugen

    2016-01-01

    Background: The aim of this study was to analyse registry data of seizure outcome and adverse events (AEs) for perampanel as add-on therapy in patients with focal epilepsy since its approval in 2012 for adjunctive treatment of focal epilepsy in patients ⩾12 years. Method: A retrospective 2-year chart review of all patients receiving perampanel was carried out. Results: A total of 122 patients received perampanel [median treatment length: 20.1 (range: 3.4–26.8) months]; 71 (58%) remained on treatment at last follow up. Overall, 33 patients (27%) were seizure-free for ⩾3 months at last follow up; of these, eight were seizure free for ⩾3 times the longest interictal interval before perampanel therapy; 18 (15%) had reduced seizure frequency ⩾50%. A total of 58 (47%) had an AE and 34 (28%) withdrew from treatment because of AEs. AEs included dizziness (33%), fatigue (12%), psychiatric symptoms (8%), cognitive deficits (7%), speech problems (5%), nausea (4%) and gait problems (4%). AEs subsided in 17/18 patients (94%) following a 2 mg dose reduction. A total of 43 (35%) took a concomitant enzyme inducer. Patients not taking enzyme inducers were more likely to be seizure free (p = 0.002); there were no other between-group differences. Conclusions: Perampanel was well tolerated and improved seizure control in 42% of patients (50– 100% reduction), with higher rates in those not receiving a concomitant enzyme inducer. AEs, particularly dizziness, were common but often disappeared with a slight dose reduction. The results are consistent with those from randomized controlled trials.

  14. [Functional connectivity and complex networks in focal epilepsy. Pathophysiology and therapeutic implications].

    Science.gov (United States)

    Pastor, Jesús; Sola, Rafael G; Vega-Zelaya, Lorena; Garnes, Óscar; Ortega, Guillermo J

    2014-05-01

    Introduccion. El modelo tradicional de cirugia de la epilepsia focal consiste en la localizacion y reseccion de la zona epileptogena. Sin embargo, una minoria significativa de pacientes epilepticos sigue teniendo crisis tras la reseccion, lo que muestra el nivel de conocimiento incompleto que actualmente se tiene sobre esta materia. Objetivo. Introducir algunos conceptos de conectividad funcional y redes complejas y su aplicacion al estudio de registros neurofisiologicos de pacientes con epilepsia focal farmacorresistente, principalmente del lobulo temporal. Desarrollo. Con el objeto de entender con plenitud los nuevos desarrollos en el area de redes complejas y sus aplicaciones al estudio de la epilepsia, se revisaran los conceptos fundamentales de la metodologia de redes complejas, sincronizacion y conectividad funcional. Asimismo, se revisaran algunos de los trabajos mas recientes en los que se analizan registros neurofisiologicos y resonancias funcionales de pacientes con epilepsia focal bajo esta nueva perspectiva. Conclusiones. Una vision mas amplia en la perspectiva para el entendimiento de la epilepsia focal, como la tratada en este trabajo, permitira tambien plantear nuevas alternativas al tratamiento quirurgico de la epilepsia focal, tanto con el desarrollo de nuevos metodos no invasivos como con la mejora y optimizacion de algunos de los metodos invasivos ya existentes.

  15. Aspectos clínicos y electroencefalográficos de la epilepsia focal en el niño Clinical and electroencephalographic features of focal epilepsy present in children

    Directory of Open Access Journals (Sweden)

    Albia Pozo Alonso

    2009-06-01

    Full Text Available INTRODUCCIÓN. El objetivo del presente trabajo fue caracterizar un grupo de pacientes con epilepsias focales, según aspectos clínicos y electroencefalográficos. MÉTODOS. Se realizó un estudio descriptivo y prospectivo de 185 niños con diagnóstico de epilepsia focal (2 o más crisis epilépticas no provocadas, con edades entre un mes y 14 años, que fueron hospitalizados en el Departamento de Neuropediatría del Hospital «William Soler» entre diciembre de 2001 y diciembre de 2003. RESULTADOS. La edad media de inicio de la primera crisis epiléptica fue de 5 años. El tipo de crisis epiléptica focal más frecuente fue la simple (49,2 %. El 48,6 % de los niños presentó etiología idiopática y el 33,0 % sintomática. Los factores de la etiología sintomática más frecuentes fueron los prenatales (56,2 %. El 91,4 % de los pacientes presentó electroencefalogramas iniciales interictales anormales. El electroencefalograma focal se observó en el 37,3 % de los niños y el multifocal en el 24,9 %. El síndrome epiléptico más frecuente fue la epilepsia benigna con puntas centrotemporales (5,9 %. CONCLUSIONES. Los niños con epilepsia focal tienen variadas manifestaciones clínicas y electroencefalográficas, y en la mayoría de los pacientes no es posible identificar un síndrome epiléptico.INTRODUCTION: The aim of present paper was to characterize a group of patients presenting with focal epilepsies by clinical and electroencephalographic features. METHODS: Authors made a descriptive and cross-sectional study in 185 children diagnosed with focal epilepsy (two or more non-provoked epilepsy crises, aged from one month to 14, admitted in Neurology Department of "William Soler" Children Hospital between December 2001 to December 2003. RESULTS: Mean age of the first epilepsy crisis was at 5 years. The more frequent type of focal epilepsy crisis was the simple one (49, 2%. The 48, 6% of children presented with a idiopathic origin, and the 33

  16. Time evolution of interhemispheric coupling in a model of focal neocortical epilepsy in mice

    Science.gov (United States)

    Vallone, F.; Vannini, E.; Cintio, A.; Caleo, M.; Di Garbo, A.

    2016-09-01

    Epilepsy is characterized by substantial network rearrangements leading to spontaneous seizures and little is known on how an epileptogenic focus impacts on neural activity in the contralateral hemisphere. Here, we used a model of unilateral epilepsy induced by injection of the synaptic blocker tetanus neurotoxin (TeNT) in the mouse primary visual cortex (V1). Local field potential (LFP) signals were simultaneously recorded from both hemispheres of each mouse in acute phase (peak of toxin action) and chronic condition (completion of TeNT effects). To characterize the neural electrical activities the corresponding LFP signals were analyzed with several methods of time series analysis. For the epileptic mice, the spectral analysis showed that TeNT determines a power redistribution among the different neurophysiological bands in both acute and chronic phases. Using linear and nonlinear interdependence measures in both time and frequency domains, it was found in the acute phase that TeNT injection promotes a reduction of the interhemispheric coupling for high frequencies (12 -30 Hz) and small time lag (40 ms). On the other hand, the chronic period is characterized by a partial or complete recovery of the interhemispheric interdependence level. Granger causality test and symbolic transfer entropy indicate a greater driving influence of the TeNT-injected side on activity in the contralateral hemisphere in the chronic phase. Lastly, based on experimental observations, we built a computational model of LFPs to investigate the role of the ipsilateral inhibition and exicitatory interhemispheric connections in the dampening of the interhemispheric coupling. The time evolution of the interhemispheric coupling in such a relevant model of epilepsy has been addressed here.

  17. Microscale spatiotemporal dynamics during neocortical propagation of human focal seizures.

    Science.gov (United States)

    Wagner, Fabien B; Eskandar, Emad N; Cosgrove, G Rees; Madsen, Joseph R; Blum, Andrew S; Potter, N Stevenson; Hochberg, Leigh R; Cash, Sydney S; Truccolo, Wilson

    2015-11-15

    Some of the most clinically consequential aspects of focal epilepsy, e.g. loss of consciousness, arise from the generalization or propagation of seizures through local and large-scale neocortical networks. Yet, the dynamics of such neocortical propagation remain poorly understood. Here, we studied the microdynamics of focal seizure propagation in neocortical patches (4×4 mm) recorded via high-density microelectrode arrays (MEAs) implanted in people with pharmacologically resistant epilepsy. Our main findings are threefold: (1) a newly developed stage segmentation method, applied to local field potentials (LFPs) and multiunit activity (MUA), revealed a succession of discrete seizure stages, each lasting several seconds. These different stages showed characteristic evolutions in overall activity and spatial patterns, which were relatively consistent across seizures within each of the 5 patients studied. Interestingly, segmented seizure stages based on LFPs or MUA showed a dissociation of their spatiotemporal dynamics, likely reflecting different contributions of non-local synaptic inputs and local network activity. (2) As previously reported, some of the seizures showed a peak in MUA that happened several seconds after local seizure onset and slowly propagated across the MEA. However, other seizures had a more complex structure characterized by, for example, several MUA peaks, more consistent with the succession of discrete stages than the slow propagation of a simple wavefront of increased MUA. In both cases, nevertheless, seizures characterized by spike-wave discharges (SWDs, ~2-3 Hz) eventually evolved into patterns of phase-locked MUA and LFPs. (3) Individual SWDs or gamma oscillation cycles (25-60 Hz), characteristic of two different types of recorded seizures, tended to propagate with varying degrees of directionality, directions of propagation and speeds, depending on the identified seizure stage. However, no clear relationship was observed between the MUA

  18. EATING EPILEPSY

    Directory of Open Access Journals (Sweden)

    I. G. Rudakova

    2014-01-01

    Full Text Available Eating epilepsy (EE is one of the types of reflex epilepsy. The authors give the definition, classification position, possible pathogenic mechanisms and etiological factors associated with EE, as well as the semiology of seizures, the data of neuroimaging and electroencephalography and approaches to patient management and drug treatment. They also describe their observation of an 11-month-old girl with symptomatic focal temporal lobe epilepsy with focal dialeptic seizures provoked by eating.

  19. Focal cortical dysplasia of the temporal lobe with late-onset partial epilepsy: serial quantitative MRI

    Energy Technology Data Exchange (ETDEWEB)

    Rademacher, J.; Seitz, R.J. [Department of Neurology, Heinrich-Heine University Duesseldorf (Germany); Aulich, A. [Department of Radiology, Heinrich-Heine University, Duesseldorf (Germany); Reifenberger, G. [Department of Neuropathology, Heinrich-Heine University, Duesseldorf (Germany); Kiwit, J.C.W. [Department of Neurosurgery, Heinrich-Heine University, Duesseldorf (Germany); Langen, K.J.; Schmidt, D. [Institute of Medicine, Research Center Juelich, Heinrich-Heine University, Duesseldorf (Germany)

    2000-06-01

    We describe serial studies of focal cortical dysplasia causing temporal lobe seizures and progressive aphasia in a 54-year-old woman. Initially, MRI volumetry of the temporal lobes showed significant left cortical thickening corresponding to an elevated aminoacid uptake in the left temporoparietal and inferior frontal cortex on SPECT using 3-[{sup 123}I]iodo-{alpha}-methyl-l-tyrosine (IMT). After 1 year there was severe shrinkage of the left temporal lobe, possibly the result of recurrent complex partial seizures. (orig.)

  20. Analysis of EEG-fMRI data in focal epilepsy based on automated spike classification and Signal Space Projection.

    Science.gov (United States)

    Liston, Adam D; De Munck, Jan C; Hamandi, Khalid; Laufs, Helmut; Ossenblok, Pauly; Duncan, John S; Lemieux, Louis

    2006-07-01

    Simultaneous acquisition of EEG and fMRI data enables the investigation of the hemodynamic correlates of interictal epileptiform discharges (IEDs) during the resting state in patients with epilepsy. This paper addresses two issues: (1) the semi-automation of IED classification in statistical modelling for fMRI analysis and (2) the improvement of IED detection to increase experimental fMRI efficiency. For patients with multiple IED generators, sensitivity to IED-correlated BOLD signal changes can be improved when the fMRI analysis model distinguishes between IEDs of differing morphology and field. In an attempt to reduce the subjectivity of visual IED classification, we implemented a semi-automated system, based on the spatio-temporal clustering of EEG events. We illustrate the technique's usefulness using EEG-fMRI data from a subject with focal epilepsy in whom 202 IEDs were visually identified and then clustered semi-automatically into four clusters. Each cluster of IEDs was modelled separately for the purpose of fMRI analysis. This revealed IED-correlated BOLD activations in distinct regions corresponding to three different IED categories. In a second step, Signal Space Projection (SSP) was used to project the scalp EEG onto the dipoles corresponding to each IED cluster. This resulted in 123 previously unrecognised IEDs, the inclusion of which, in the General Linear Model (GLM), increased the experimental efficiency as reflected by significant BOLD activations. We have also shown that the detection of extra IEDs is robust in the face of fluctuations in the set of visually detected IEDs. We conclude that automated IED classification can result in more objective fMRI models of IEDs and significantly increased sensitivity.

  1. Alteration of consciousness in focal epilepsy: the global workspace alteration theory.

    Science.gov (United States)

    Bartolomei, Fabrice; McGonigal, Aileen; Naccache, Lionel

    2014-01-01

    Alteration of consciousness (AOC) is an important clinical manifestation of partial seizures that greatly impacts the quality of life of patients with epilepsy. Several theories have been proposed in the last fifty years. An emerging concept in neurology is the global workspace (GW) theory that postulates that access to consciousness (from several sensorial modalities) requires transient coordinated activity from associative cortices, in particular the prefrontal cortex and the posterior parietal associative cortex. Several lines of evidence support the view that partial seizures alter consciousness through disturbance of the GW. In particular, a nonlinear relation has been shown between excess of synchronization in the GW regions and the degree of AOC. Changes in thalamocortical synchrony occurring during the spreading of the ictal activity seem particularly involved in the mechanism of altered consciousness. This link between abnormal synchrony and AOC offers new perspectives in the treatment of the AOC since means of decreasing consciousness alteration in seizures could improve patients' quality of life.

  2. Epilepsy

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    2008481 Application of amplitude of low-frequency fluctuation to the temporal lobe epilepsy with bilateral hippocampal sclerosis: an fMRI study. ZHANG Zhiqiang(张志强), et al.Dept Med Imaging, Clin Sch, Med Coll, Nanjing Univ, Nanjing 210002.Natl Med J China 2008;88(23):1594-1598. Objective To study the changes of amplitude of low-frequency fluctuation (ALFF) of the resting-fMRI in the mesial temporal lobe epilepsy (mTLE) with

  3. Epilepsy

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    2008115 Effect of commonly used antiepileptic drugs on cognitive functions of rats with pentylenetetrazol-induced epilepsy. WANG Xiaopeng(王晓鹏), et al. Dept Neurol, 2nd Hosp, Hebei Med Univ, Shijiazhuang 050000. Shanghai Med J 2007;30(12):920-923. Objective To observe the effect of antiepileptic drugs on the cognitive functions of rats with induced epilepsy. Methods Seventy male SD rats in their puberty were randomized into 7 groups,

  4. Quantification of primary motor pathways using diffusion MRI tractography and its application to predict postoperative motor deficits in children with focal epilepsy.

    Science.gov (United States)

    Jeong, Jeong-Won; Asano, Eishi; Juhász, Csaba; Chugani, Harry T

    2014-07-01

    As a new tool to quantify primary motor pathways and predict postoperative motor deficits in children with focal epilepsy, the present study utilized a maximum a posteriori probability (MAP) classification of diffusion weighted imaging (DWI) tractography combined with Kalman filter. DWI was performed in 31 children with intractable focal epilepsy who underwent epilepsy surgery. Three primary motor pathways associated with "finger," "leg," and "face" were classified using DWI-MAP classifier and compared with the results of invasive electrical stimulation mapping (ESM) via receiver operating characteristic (ROC) curve analysis. The Kalman filter analysis was performed to generate a model to determine the probability of postoperative motor deficits as a function of the proximity between the resection margin and the finger motor pathway. The ROC curve analysis showed that the DWI-MAP achieves high accuracy up to 89% (finger), 88% (leg), 89% (face), in detecting the three motor areas within 20 mm, compared with ESM. Moreover, postoperative reduction of the fiber count of finger pathway was associated with postoperative motor deficits involving the hand. The prediction model revealed an accuracy of 92% in avoiding postoperative deficits if the distance between the resection margin and the finger motor pathway seen on preoperative DWI tractography was 19.5 mm. This study provides evidence that the DWI-MAP combined with Kalman filter can effectively identify the locations of cortical motor areas even in patients whose motor areas are difficult to identify using ESM, and also can serve as a reliable predictor for motor deficits following epilepsy surgery.

  5. Refractory focal epilepsy in a patient with methylmalonic aciduria: case report on positive and long-lasting effect of rufinamide.

    Science.gov (United States)

    von Stülpnagel, C; Leichsenring, M; Müller, A; Staudt, M; Kluger, G

    2011-02-01

    We report on a 5-year-old boy with methylmalonic aciduria, an autosomal recessive inborn error of metabolism leading to accumulation of methylmalonic-CoA and thereby causing intoxication with leading symptoms of hyperammonaemia and metabolic acidosis. Hyperammonemia itself causes brain oedema. In our patient, this led to a vast metabolic stroke of the left hemisphere and subsequent pharmacoresistant epilepsy. Guided by his main seizures--drop attacks--the orphan drug rufinamide (RUF) was introduced as "off-label use" and led to freedom of drop attacks and tonic-clonic seizures over a period of 14 months as well as normalisation of the electroencephalogramm. Only once during an episode of fever and diarrhoea with reduced level of RUF did some provoked seizures with focal complex semiology for the time period of infection occur. In the 16 months follow-up, the patient also improved in his development, showing a more stable gait with the hemiparesis and understanding more complex sentences.

  6. [Clinical and EEG studies of symptomatic focal epilepsy in 7 patients with colpocephaly].

    Science.gov (United States)

    Ito, Yasushi; Oguni, Hirokazu; Funatsuka, Makoto; Osawa, Makiko

    2008-05-01

    The clinical observations of seven patients with epileptic seizures and colpocephaly were summarized. The ages at the time of onset of the seizures were usually under 1 year, and the frequency of seizures in the late-onset cases was lower than that in the early-onset cases. The seizures were characterized by vomiting, eye deviation, versive seizures, and focal motor seizures. Interictal electroencephalograms showed either unilateral or synchronous bilateral spikes (and wave) or slowing of the basic activity in the occipital area. The basic activity slowed down in all of the cases. Epileptic seizures accompanied with colpocephaly may derive from epileptic foci in the occipital and posterior temporal region, which is structurally abnormal. Ongoing convulsions ceased after the intravenous administration of diazepam. In addition, the oral antiepileptics clobazam and clorazepate proved to be effective for the treatment of refractory cases.

  7. Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy

    Science.gov (United States)

    Roy, Achira; Skibo, Jonathan; Kalume, Franck; Ni, Jing; Rankin, Sherri; Lu, Yiling; Dobyns, William B; Mills, Gordon B; Zhao, Jean J; Baker, Suzanne J; Millen, Kathleen J

    2015-01-01

    Mutations in the catalytic subunit of phosphoinositide 3-kinase (PIK3CA) and other PI3K-AKT pathway components have been associated with cancer and a wide spectrum of brain and body overgrowth. In the brain, the phenotypic spectrum of PIK3CA-related segmental overgrowth includes bilateral dysplastic megalencephaly, hemimegalencephaly and focal cortical dysplasia, the most common cause of intractable pediatric epilepsy. We generated mouse models expressing the most common activating Pik3ca mutations (H1047R and E545K) in developing neural progenitors. These accurately recapitulate all the key human pathological features including brain enlargement, cortical malformation, hydrocephalus and epilepsy, with phenotypic severity dependent on the mutant allele and its time of activation. Underlying mechanisms include increased proliferation, cell size and altered white matter. Notably, we demonstrate that acute 1 hr-suppression of PI3K signaling despite the ongoing presence of dysplasia has dramatic anti-epileptic benefit. Thus PI3K inhibitors offer a promising new avenue for effective anti-epileptic therapy for intractable pediatric epilepsy patients. DOI: http://dx.doi.org/10.7554/eLife.12703.001 PMID:26633882

  8. Inflammatory mediators in human epilepsy : A systematic review and meta-analysis

    NARCIS (Netherlands)

    de Vries, Evelien E.; van den Munckhof, Bart; Braun, Kees P J; van Royen-Kerkhof, Annet; de Jager, Wilco; Jansen, Floor E.

    Background: Accumulating evidence suggests a role for inflammation in the pathophysiology of epilepsy. Methods: We performed a systematic review and meta-analysis of studies that investigated inflammatory mediators in human epilepsy. Studies reporting on inflammatory mediators in serum,

  9. Focal epithelial hyperplasia: a multifocal oral human papillomavirus infection.

    Science.gov (United States)

    Flaitz, C M

    2000-01-01

    Widespread, slightly elevated and confluent nodules are observed throughout the oral mucosa in a young Hispanic girl. Repeated irritation of the soft tissues from a compromised occlusion is an aggravating factor for the spread of these lesions. A diagnosis of focal epithelial hyperplasia, a human papillomavirus infection, is made following histopathologic diagnosis and viral typing. Recognition of this specific type of warts is important in order to avoid the mistaken identification of condyloma acuminata, which may have significant repercussions in the life of a young child.

  10. A Comparison of Independent Component Analysis (ICA) of fMRI and Electrical Source Imaging (ESI) in Focal Epilepsy Reveals Misclassification Using a Classifier.

    Science.gov (United States)

    Maziero, Danilo; Sturzbecher, Marcio; Velasco, Tonicarlo Rodrigues; Rondinoni, Carlo; Castellanos, Agustin Lage; Carmichael, David William; Salmon, Carlos Ernesto Garrido

    2015-11-01

    Interictal epileptiform discharges (IEDs) can produce haemodynamic responses that can be detected by electroencephalography-functional magnetic resonance imaging (EEG-fMRI) using different analysis methods such as the general linear model (GLM) of IEDs or independent component analysis (ICA). The IEDs can also be mapped by electrical source imaging (ESI) which has been demonstrated to be useful in presurgical evaluation in a high proportion of cases with focal IEDs. ICA advantageously does not require IEDs or a model of haemodynamic responses but its use in EEG-fMRI of epilepsy has been limited by its ability to separate and select epileptic components. Here, we evaluated the performance of a classifier that aims to filter all non-BOLD responses and we compared the spatial and temporal features of the selected independent components (ICs). The components selected by the classifier were compared to those components selected by a strong spatial correlation with ESI maps of IED sources. Both sets of ICs were subsequently compared to a temporal model derived from the convolution of the IEDs (derived from the simultaneously acquired EEG) with a standard haemodynamic response. Selected ICs were compared to the patients' clinical information in 13 patients with focal epilepsy. We found that the misclassified ICs clearly related to IED in 16/25 cases. We also found that the classifier failed predominantly due to the increased spectral range of fMRIs temporal responses to IEDs. In conclusion, we show that ICA can be an efficient approach to separate responses related to epilepsy but that contemporary classifiers need to be retrained for epilepsy data. Our findings indicate that, for ICA to contribute to the analysis of data without IEDs to improve its sensitivity, classification strategies based on data features other than IC time course frequency is required.

  11. Effectiveness of clobazam as add-on therapy in children with refractory focal epilepsy Eficácia do clobazam como terapia adjuvante em crianças com epilepsia focal refratária

    Directory of Open Access Journals (Sweden)

    Mariana Ribeiro Marcondes da Silveira

    2006-09-01

    Full Text Available The objective of this study was to evaluate the safety and efficacy of clobazam in children with refractory focal epilepsy. We investigated 100 consecutive patients concerning etiology of epilepsy, previously used antiepileptic drugs, seizure frequency and adverse events. Clobazam was introduced as add-on therapy in patients with previous failure of at least two monotherapies. Mean age was eight years-old and 39 patients were girls. Clobazam mean dosage was 23.6 mg/day. Mean use of clobazam was 18.6 months. Twenty-two patients had adverse events. Twenty-six patients became seizure-free, 11 had an improvement of >75% and in 58 there was no modification in seizure frequency. Five patients had an increase in seizure frequency. Clobazam efficacy lasted for more than one year in 42% of the seizure-free patients. Clobazam seems to be safe and effective in the treatment of focal epilepsy in childhood and should be considered in patients with refractory seizures.O objetivo deste estudo foi avaliar a segurança e eficácia do clobazam em crianças com epilepsia focal refratária. Nós investigamos 100 pacientes consecutivos em relação à etiologia da epilepsia, uso prévio de drogas anti-epilépticas, freqüência de crises e eventos adversos. Clobazam foi introduzido como terapia adjuvante em pacientes que não responderam a pelo menos duas monoterapias. A idade média foi 8 anos e 39 pacientes eram do sexo feminino. A dose média de clobazam foi 23,6 mg/dia. O uso médio de clobazam foi por 18,6 meses. Vinte e dois pacientes tiveram eventos adversos. Vinte e seis pacientes tornaram-se livres de crises, 11 tiveram melhora > 75% e em 58 não houve modificação na freqüência de crises. Cinco pacientes tiveram aumento na freqüência de crises. A eficácia do clobazam permaneceu por mais de um ano em 42% dos pacientes sem crises. Clobazam parece ser seguro e eficaz no tratamento de epilepsia focal na infância e deve ser considerado em pacientes com

  12. Focal adhesion kinase overexpression and its impact on human osteosarcoma

    Science.gov (United States)

    Chen, Yong; Yang, Aizhen; Chen, Hui; Zhang, Jian; Wu, Sujia; Shi, Xin; Wang, Chen; Sun, Xiaoliang

    2015-01-01

    Focal adhesion kinase (FAK) has been implicated in tumorigenesis in various malignancies. We sought to examine the expression patterns of FAK and the activated form, phosphorylated FAK (pFAK), in human osteosarcoma and to investigate the correlation of FAK expression with clinicopathologic parameters and prognosis. In addition, the functional consequence of manipulating the FAK protein level was investigated in human osteosarcoma cell lines. Immunohistochemical staining was used to detect FAK and pFAK in pathologic archived materials from 113 patients with primary osteosarcoma. Kaplan-Meier survival and Cox regression analyses were performed to evaluate the prognoses. The role of FAK in the cytological behavior of MG63 and 143B human osteosarcoma cell lines was studied via FAK protein knock down with siRNA. Cell proliferation, migration, invasiveness and apoptosis were assessed using the CCK8, Transwell and Annexin V/PI staining methods. Both FAK and pFAK were overexpressed in osteosarcoma. There were significant differences in overall survival between the FAK-/pFAK- and FAK+/pFAK- groups (P = 0.016), the FAK+/pFAK- and FAK+/pFAK+ groups (P = 0.012) and the FAK-/pFAK- and FAK+/pFAK+ groups (P osteosarcoma cell proliferation and apoptosis. These results collectively suggest that FAK overexpression and phosphorylation might predict more aggressive biologic behavior in osteosarcoma and may be an independent predictor of poor prognosis. PMID:26393679

  13. Epilepsy surgery in children and adolescents with malformations of cortical development--outcome and impact of the new ILAE classification on focal cortical dysplasia.

    Science.gov (United States)

    Mühlebner, Angelika; Gröppel, Gudrun; Dressler, Anastasia; Reiter-Fink, Edith; Kasprian, Gregor; Prayer, Daniela; Dorfer, Christian; Czech, Thomas; Hainfellner, Johannes A; Coras, Roland; Blümcke, Ingmar; Feucht, Martha

    2014-11-01

    To determine long-term efficacy and safety of epilepsy surgery in children and adolescents with malformations of cortical development (MCD) and to identify differences in seizure outcome of the various MCD subgroups. Special focus was set on the newly introduced International League Against Epilepsy (ILAE) classification of focal cortical dysplasia (FCD). This is a single center retrospective cross-sectional analysis of prospectively collected data. age at surgery <18 years, pre-surgical evaluation and epilepsy surgery performed at the Vienna pediatric epilepsy center, histologically proven MCD, complete follow-up data for at least 12 months. Clinical variables evaluated: type and localization of MCD, type of surgery and a variety of clinical characteristics reported to be associated with (un-)favorable outcomes. MCD were classified following the existing classification schemes (Barkovich et al., 2012. Brain. 135, 1348-1369; Palmini et al., 2004. Neurology. 62, S2-S8) and the ILAE classification for FCD recently proposed by Blümcke in 2011. Seizure outcome was classified using the ILAE classification proposed by Wieser in 2001. 60 Patients (51.7% male) were included. Follow up was up to 14 (mean 4.4 ± 3.2) years. Mean age at surgery was 8.0 ± 6.0 (median 6.0) years; mean age at epilepsy onset was 2.9 ± 3.2 (median 2.0) years; duration of epilepsy before surgery was 4.8 ± 4.4 (median 3.0) years. 80% of the patients were seizure free at last follow-up. AEDs were successfully withdrawn in 56.7% of all patients. Extended surgery, lesion localization in the temporal lobes and absence of inter-ictal spikes in postsurgical EEG recordings were predictive of favorable seizure outcomes after surgery. However, no association was found between outcome and MCD sub-types. Epilepsy surgery is highly effective in carefully selected drug-resistant children with MCD. Surrogate markers for complete resection of the epileptogenic zone remain the only significant predictors for

  14. Comparative Long-Term Effectiveness of a Monotherapy with Five Antiepileptic Drugs for Focal Epilepsy in Adult Patients: A Prospective Cohort Study.

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    Qing-Yi Zeng

    Full Text Available To evaluate and compare long-term effectiveness of five antiepileptic drugs (AEDs for monotherapy of adult patients with focal epilepsy in routine clinical practice.Adult patients with focal epilepsy, who were prescribed with carbamazepine (CBZ, valproate (VPA, lamotrigine (LTG, topiramate (TPM, or oxcarbazepine (OXC as monotherapy, during the period from January 2004 to June 2012 registered in Wenzhou Epilepsy Follow Up Registry Database (WEFURD, were included in the study. Prospective long-term follow-up was conducted until June 2013. The endpoints were time to treatment failure, time to seizure remission, and time to first seizure.This study included 654 patients: CBZ (n=125, VPA (n=151, LTG (n=135, TPM (n=76, and OXC (n=167. The retention rates of CBZ, VPA, LTG, TPM, and OXC at the third year were 36.1%, 32.4%, 57.6%, 37.9%, and 41.8%, respectively. For time to treatment failure, LTG was significantly better than CBZ and VPA (LTG vs. CBZ, hazard ratio, [HR] 0.80 [95% confidence interval: 0.67-0.96], LTG vs. VPA, 0.53 [0.37-0.74]; TPM was worse than LTG (TPM vs. LTG, 1.77 [1.15-2.74], and OXC was better than VPA (0.86 [0.78-0.96]. After initial target doses, the seizure remission rates of CBZ, VPA, LTG, TPM, and OXC were 63.0%, 77.0%, 83.6%, 67.9%, and 75.3%, respectively. LTG was significantly better than CBZ (1.44 [1.15-1.82] and OXC (LTG vs. OXC, 0.76 [0.63-0.93]; OXC was less effective than LTG in preventing the first seizure (1.20 [1.02-1.40].LTG was the best, OXC was better than VPA only, while VPA was the worst. The others were equivalent for comparisons between five AEDs regarding the long-term treatment outcomes of monotherapy for adult patients with focal epilepsy in a clinical practice. For selecting AEDs for these patients among the first-line drugs, LTG is an appropriate first choice; others are reservation in the first-line but VPA is not.

  15. Comparative Long-Term Effectiveness of a Monotherapy with Five Antiepileptic Drugs for Focal Epilepsy in Adult Patients: A Prospective Cohort Study.

    Science.gov (United States)

    Zeng, Qing-Yi; Fan, Tian-Tian; Zhu, Pan; He, Ru-Qian; Bao, Yi-Xin; Zheng, Rong-Yuan; Xu, Hui-Qin

    2015-01-01

    To evaluate and compare long-term effectiveness of five antiepileptic drugs (AEDs) for monotherapy of adult patients with focal epilepsy in routine clinical practice. Adult patients with focal epilepsy, who were prescribed with carbamazepine (CBZ), valproate (VPA), lamotrigine (LTG), topiramate (TPM), or oxcarbazepine (OXC) as monotherapy, during the period from January 2004 to June 2012 registered in Wenzhou Epilepsy Follow Up Registry Database (WEFURD), were included in the study. Prospective long-term follow-up was conducted until June 2013. The endpoints were time to treatment failure, time to seizure remission, and time to first seizure. This study included 654 patients: CBZ (n=125), VPA (n=151), LTG (n=135), TPM (n=76), and OXC (n=167). The retention rates of CBZ, VPA, LTG, TPM, and OXC at the third year were 36.1%, 32.4%, 57.6%, 37.9%, and 41.8%, respectively. For time to treatment failure, LTG was significantly better than CBZ and VPA (LTG vs. CBZ, hazard ratio, [HR] 0.80 [95% confidence interval: 0.67-0.96], LTG vs. VPA, 0.53 [0.37-0.74]); TPM was worse than LTG (TPM vs. LTG, 1.77 [1.15-2.74]), and OXC was better than VPA (0.86 [0.78-0.96]). After initial target doses, the seizure remission rates of CBZ, VPA, LTG, TPM, and OXC were 63.0%, 77.0%, 83.6%, 67.9%, and 75.3%, respectively. LTG was significantly better than CBZ (1.44 [1.15-1.82]) and OXC (LTG vs. OXC, 0.76 [0.63-0.93]); OXC was less effective than LTG in preventing the first seizure (1.20 [1.02-1.40]). LTG was the best, OXC was better than VPA only, while VPA was the worst. The others were equivalent for comparisons between five AEDs regarding the long-term treatment outcomes of monotherapy for adult patients with focal epilepsy in a clinical practice. For selecting AEDs for these patients among the first-line drugs, LTG is an appropriate first choice; others are reservation in the first-line but VPA is not.

  16. Genetic determinants of common epilepsies

    DEFF Research Database (Denmark)

    2014-01-01

    and insufficient power. We aimed to identify risk loci through meta-analyses of genome-wide association studies for all epilepsy and the two largest clinical subtypes (genetic generalised epilepsy and focal epilepsy). METHODS: We combined genome-wide association data from 12 cohorts of individuals with epilepsy...... and controls from population-based datasets. Controls were ethnically matched with cases. We phenotyped individuals with epilepsy into categories of genetic generalised epilepsy, focal epilepsy, or unclassified epilepsy. After standardised filtering for quality control and imputation to account for different...... genotyping platforms across sites, investigators at each site conducted a linear mixed-model association analysis for each dataset. Combining summary statistics, we conducted fixed-effects meta-analyses of all epilepsy, focal epilepsy, and genetic generalised epilepsy. We set the genome-wide significance...

  17. Successful treatment with adjunctive lacosamide in a patient with long term “drug resistant” focal epilepsy

    Directory of Open Access Journals (Sweden)

    Fröscher Walter

    2014-06-01

    Full Text Available Introduction. A significant number of patients suffering from epilepsy prove to be resistant to antiepileptic drugs (AEDs. Recent studies, however, suggest that 10–20% of seemingly drug resistant patients may still become seizure-free under the influence of subsequent dosage modifications.

  18. Hsp60 response in experimental and human temporal lobe epilepsy.

    Science.gov (United States)

    Marino Gammazza, Antonella; Colangeli, Roberto; Orban, Gergely; Pierucci, Massimo; Di Gennaro, Giancarlo; Lo Bello, Margherita; D'Aniello, Alfredo; Bucchieri, Fabio; Pomara, Cristoforo; Valentino, Mario; Muscat, Richard; Benigno, Arcangelo; Zummo, Giovanni; de Macario, Everly Conway; Cappello, Francesco; Di Giovanni, Giuseppe; Macario, Alberto J L

    2015-03-24

    The mitochondrial chaperonin Hsp60 is a ubiquitous molecule with multiple roles, constitutively expressed and inducible by oxidative stress. In the brain, Hsp60 is widely distributed and has been implicated in neurological disorders, including epilepsy. A role for mitochondria and oxidative stress has been proposed in epileptogenesis of temporal lobe epilepsy (TLE). Here, we investigated the involvement of Hsp60 in TLE using animal and human samples. Hsp60 immunoreactivity in the hippocampus, measured by Western blotting and immunohistochemistry, was increased in a rat model of TLE. Hsp60 was also increased in the hippocampal dentate gyrus neurons somata and neuropil and hippocampus proper (CA3, CA1) of the epileptic rats. We also determined the circulating levels of Hsp60 in epileptic animals and TLE patients using ELISA. The epileptic rats showed circulating levels of Hsp60 higher than controls. Likewise, plasma post-seizure Hsp60 levels in patients were higher than before the seizure and those of controls. These results demonstrate that Hsp60 is increased in both animals and patients with TLE in affected tissues, and in plasma in response to epileptic seizures, and point to it as biomarker of hippocampal stress potentially useful for diagnosis and patient management.

  19. The inflammatory molecules IL-1β and HMGB1 can rapidly enhance focal seizure generation in a brain slice model of temporal lobe epilepsy

    Directory of Open Access Journals (Sweden)

    Angela eChiavegato

    2014-06-01

    Full Text Available Epilepsy is a neurological disorder characterized by a hyperexcitable brain tissue and unpredictable seizures, i.e., aberrant firing discharges in large neuronal populations. It is well established that proinflammatory cytokines, in addition to their canonical involvement in the immune response, have a crucial role in the mechanism of seizure generation. The purpose of the present study was to investigate the role of interleukin-1β (IL-1β and high mobility group B1 (HMGB1 in the generation of seizure-like discharges using two models of focal epilepsy in a rat entorhinal cortex slice preparation. Seizure like-discharges were evoked by either slice perfusion with low Mg2+ and picrotoxin or with a double NMDA local stimulation in the presence of the proconvulsant 4-amino-pyridine. The effects of IL-1β or HMGB1 were evaluated by monitoring seizure discharge generation through laser scanning microscope imaging of Ca2+ signals from neurons and astrocytes. In the picrotoxin model, we revealed that both cytokines increased the mean frequency of spontaneous ictal-like discharges, whereas only IL-1β reduced the latency and prolonged the duration of the first ictal-like event. In the second model, a single NMDA pulse, per se ineffective, became successful when it was performed after IL-β or HMGB1 local applications. These findings demonstrate that both IL-1β and HMGB1 can rapidly lower focal ictal event threshold and strengthen the possibility that targeting these inflammatory pathways may represent an effective therapeutic strategy to prevent seizures.

  20. Atypical language laterality is associated with large-scale disruption of network integration in children with intractable focal epilepsy.

    Science.gov (United States)

    Ibrahim, George M; Morgan, Benjamin R; Doesburg, Sam M; Taylor, Margot J; Pang, Elizabeth W; Donner, Elizabeth; Go, Cristina Y; Rutka, James T; Snead, O Carter

    2015-04-01

    Epilepsy is associated with disruption of integration in distributed networks, together with altered localization for functions such as expressive language. The relation between atypical network connectivity and altered localization is unknown. In the current study we tested whether atypical expressive language laterality was associated with the alteration of large-scale network integration in children with medically-intractable localization-related epilepsy (LRE). Twenty-three right-handed children (age range 8-17) with medically-intractable LRE performed a verb generation task in fMRI. Language network activation was identified and the Laterality index (LI) was calculated within the pars triangularis and pars opercularis. Resting-state data from the same cohort were subjected to independent component analysis. Dual regression was used to identify associations between resting-state integration and LI values. Higher positive values of the LI, indicating typical language localization were associated with stronger functional integration of various networks including the default mode network (DMN). The normally symmetric resting-state networks showed a pattern of lateralized connectivity mirroring that of language function. The association between atypical language localization and network integration implies a widespread disruption of neural network development. These findings may inform the interpretation of localization studies by providing novel insights into reorganization of neural networks in epilepsy.

  1. Focal Areas for Measuring the Human Well-Being Impacts of a Conservation Initiative

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    M. Sanjayan

    2013-03-01

    Full Text Available Within conservation, the need to measure the impacts on people from conservation initiatives such as projects and programs is growing, but understanding and measuring the multidimensional impacts on human well-being from conservation initiatives is complex. To understand the constituent components of human well-being and identify which components of well-being are most common, we analyzed 31 known indices for measuring human well-being. We found 11 focal areas shared by two or more indices for measuring human well-being, and the focal areas of living standards, health, education, social cohesion, security, environment, and governance were in at least 14 of the 31 human well-being indices. We examined each of the common focal areas and assessed its relevance to measuring the human well-being impacts of a conservation initiative. We then looked for existing indices that include the relevant focal areas and recommend the use of Stiglitz et al. (2009—a framework designed to measure economic performance and social progress—as a starting place for understanding and selecting human well-being focal areas suitable for measuring the impacts on people from a conservation initiative.

  2. [Focal epithelial hyperplasia of the oral mucosa. A unique manifestation of human papillomavirus].

    Science.gov (United States)

    van der Voort, E A M; Arani, S Fallah; Hegt, V Noordhoek; van Praag, M C G

    2009-03-01

    A 34-year old Creole woman appeared at the dermatology department with white-pink spots on the oral mucosa, which had been there for some time. Histology showed lesions characteristic of focal epithelial hyperplasia. The patient was treated with a CO2 laser. Focal epithelial hyperplasia is a rare benign lesion and is caused by human papillomavirus subtypes 13 or 32; it only appears on the oral mucosa.

  3. Objective 3D surface evaluation of intracranial electrophysiologic correlates of cerebral glucose metabolic abnormalities in children with focal epilepsy.

    Science.gov (United States)

    Jeong, Jeong-Won; Asano, Eishi; Kumar Pilli, Vinod; Nakai, Yasuo; Chugani, Harry T; Juhász, Csaba

    2017-03-21

    To determine the spatial relationship between 2-deoxy-2[(18) F]fluoro-D-glucose (FDG) metabolic and intracranial electrophysiological abnormalities in children undergoing two-stage epilepsy surgery, statistical parametric mapping (SPM) was used to correlate hypo- and hypermetabolic cortical regions with ictal and interictal electrocorticography (ECoG) changes mapped onto the brain surface. Preoperative FDG-PET scans of 37 children with intractable epilepsy (31 with non-localizing MRI) were compared with age-matched pseudo-normal pediatric control PET data. Hypo-/hypermetabolic maps were transformed to 3D-MRI brain surface to compare the locations of metabolic changes with electrode coordinates of the ECoG-defined seizure onset zone (SOZ) and interictal spiking. While hypometabolic clusters showed a good agreement with the SOZ on the lobar level (sensitivity/specificity = 0.74/0.64), detailed surface-distance analysis demonstrated that large portions of ECoG-defined SOZ and interictal spiking area were located at least 3 cm beyond hypometabolic regions with the same statistical threshold (sensitivity/specificity = 0.18-0.25/0.94-0.90 for overlap 3-cm distance); for a lower threshold, sensitivity for SOZ at 3 cm increased to 0.39 with a modest compromise of specificity. Performance of FDG-PET SPM was slightly better in children with smaller as compared with widespread SOZ. The results demonstrate that SPM utilizing age-matched pseudocontrols can reliably detect the lobe of seizure onset. However, the spatial mismatch between metabolic and EEG epileptiform abnormalities indicates that a more complete SOZ detection could be achieved by extending intracranial electrode coverage at least 3 cm beyond the metabolic abnormality. Considering that the extent of feasible electrode coverage is limited, localization information from other modalities is particularly important to optimize grid coverage in cases of large hypometabolic cortex. Hum Brain Mapp, 2017. © 2017

  4. Combined electroencephalography-functional magnetic resonance imaging and electrical source imaging improves localization of pediatric focal epilepsy.

    Science.gov (United States)

    Centeno, Maria; Tierney, Tim M; Perani, Suejen; Shamshiri, Elhum A; St Pier, Kelly; Wilkinson, Charlotte; Konn, Daniel; Vulliemoz, Serge; Grouiller, Frédéric; Lemieux, Louis; Pressler, Ronit M; Clark, Christopher A; Cross, J Helen; Carmichael, David W

    2017-08-01

    Surgical treatment in epilepsy is effective if the epileptogenic zone (EZ) can be correctly localized and characterized. Here we use simultaneous electroencephalography-functional magnetic resonance imaging (EEG-fMRI) data to derive EEG-fMRI and electrical source imaging (ESI) maps. Their yield and their individual and combined ability to (1) localize the EZ and (2) predict seizure outcome were then evaluated. Fifty-three children with drug-resistant epilepsy underwent EEG-fMRI. Interictal discharges were mapped using both EEG-fMRI hemodynamic responses and ESI. A single localization was derived from each individual test (EEG-fMRI global maxima [GM]/ESI maximum) and from the combination of both maps (EEG-fMRI/ESI spatial intersection). To determine the localization accuracy and its predictive performance, the individual and combined test localizations were compared to the presumed EZ and to the postsurgical outcome. Fifty-two of 53 patients had significant maps: 47 of 53 for EEG-fMRI, 44 of 53 for ESI, and 34 of 53 for both. The EZ was well characterized in 29 patients; 26 had an EEG-fMRI GM localization that was correct in 11, 22 patients had ESI localization that was correct in 17, and 12 patients had combined EEG-fMRI and ESI that was correct in 11. Seizure outcome following resection was correctly predicted by EEG-fMRI GM in 8 of 20 patients, and by the ESI maximum in 13 of 16. The combined EEG-fMRI/ESI region entirely predicted outcome in 9 of 9 patients, including 3 with no lesion visible on MRI. EEG-fMRI combined with ESI provides a simple unbiased localization that may predict surgery better than each individual test, including in MRI-negative patients. Ann Neurol 2017;82:278-287. © 2017 American Neurological Association.

  5. A surgical case of frontal lobe epilepsy due to focal cortical dysplasia accompanied by olfactory nerve enlargement: case report.

    Science.gov (United States)

    Minami, Noriaki; Uda, Takehiro; Matsumoto, Takahiro; Nagai, Taiki; Uchida, Tatsuya; Kamei, Takamasa; Morino, Michiharu

    2014-01-01

    A 45-year-old man came to our clinic due to refractory general tonic seizure and an attack of unintended yelling. Magnetic resonance imaging (MRI) demonstrated mild cortical hyperintensity on fluid attenuated inversion recovery (FLAIR) image in the left basal frontal area. Enlargement of the left olfactory nerve was also detected below the affected gyrus. Subtotal resection of the MRI-visible epileptogenic lesion was performed without any neurological deficit. The final pathological diagnosis was focal cortical dysplasia (FCD) type IIa. Seizures and yelling attacks subsided after surgery. Extracerebral abnormalities, including cranial nerve enlargement, are common in patients with hemimegalencephaly. However, such abnormalities are rare with FCD.

  6. Relevance of the glutathione system in temporal lobe epilepsy: evidence in human and experimental models.

    Science.gov (United States)

    Cárdenas-Rodríguez, Noemí; Coballase-Urrutia, Elvia; Pérez-Cruz, Claudia; Montesinos-Correa, Hortencia; Rivera-Espinosa, Liliana; Sampieri, Aristides; Carmona-Aparicio, Liliana

    2014-01-01

    Oxidative stress, which is a state of imbalance in the production of reactive oxygen species and nitrogen, is induced by a wide variety of factors. This biochemical state is associated with diseases that are systemic as well as diseases that affect the central nervous system. Epilepsy is a chronic neurological disorder, and temporal lobe epilepsy represents an estimated 40% of all epilepsy cases. Currently, evidence from human and experimental models supports the involvement of oxidative stress during seizures and in the epileptogenesis process. Hence, the aim of this review was to provide information that facilitates the processing of this evidence and investigate the therapeutic impact of the biochemical status for this specific pathology.

  7. The Peptide Network between Tetanus Toxin and Human Proteins Associated with Epilepsy

    Directory of Open Access Journals (Sweden)

    Guglielmo Lucchese

    2014-01-01

    Full Text Available Sequence matching analyses show that Clostridium tetani neurotoxin shares numerous pentapeptides (68, including multiple occurrences with 42 human proteins that, when altered, have been associated with epilepsy. Such a peptide sharing is higher than expected, nonstochastic, and involves tetanus toxin-derived epitopes that have been validated as immunopositive in the human host. Of note, an unexpected high level of peptide matching is found in mitogen-activated protein kinase 10 (MK10, a protein selectively expressed in hippocampal areas. On the whole, the data indicate a potential for cross-reactivity between the neurotoxin and specific epilepsy-associated proteins and may help evaluate the potential risk for epilepsy following immune responses induced by tetanus infection. Moreover, this study may contribute to clarifying the etiopathogenesis of the different types of epilepsy.

  8. Lacosamide as add-on treatment of focal symptomatic epilepsy in a patient with alcoholic liver cirrhosis

    Directory of Open Access Journals (Sweden)

    A. Romigi

    2014-01-01

    Full Text Available The occurrence of epileptic seizures in the presence of hepatic disease is not uncommon in clinical practice. Selecting an appropriate AED for patients affected by liver failure who have new-onset epileptic seizures can be challenging. We describe a 64-year-old man affected by liver cirrhosis. The patient developed partial epilepsy with secondary generalization because of an intracerebral hemorrhage in the left parieto-occipital regions. After the neurosurgery procedure, seizures reappeared and were initially managed with levetiracetam. After one month, the patient experienced clusters of seizures while on stable treatment with levetiracetam. Pregabalin as add-on was not tolerated; therefore, he received a low dose of phenobarbital as add-on treatment. The patient developed hepatic encephalopathy. Phenobarbital was immediately stopped, and oral lacosamide was added. A rapid recovery of encephalopathy with a 6-month seizure freedom was obtained. The patient died 6 months later because of progressive impairment of liver function. Lacosamide may represent an alternative to other AEDs in patients with liver failure; however, further prospective evaluation of its efficacy and safety in this clinical setting is needed.

  9. A Case Report of Focal Epithelial Hyperplasia (Heck's disease) with PCR Detection of Human Papillomavirus.

    Science.gov (United States)

    Ozden, Bora; Gunduz, Kaan; Gunhan, Omer; Ozden, Feyza Otan

    2011-12-01

    Focal epithelial hyperplasia or Heck's disease, is a rare viral infection of the oral mucosa caused by human papillomavirus. The frequency of this disease varies widely from one geographic region to another. In Caucasians there have been only few cases reported. This paper reports a case of focal epithelial hyperplasia and demonstrates the association with HPV subtype 32 through polymerase chain reaction (PCR) and sequencing of PCR products. A 7-year-old Caucasian girl was admitted to our clinic for investigation of multiple oral mucosal lesions in the mouth. Lesion was excised under local anesthesia without any complication. The lesion was diagnosed as focal epithelial hyperplasia according to both clinical and histopathological features. Dental staff should be aware of these kind of lesions and histopathological examination together with a careful clinical observation should be carried out for a definitive diagnosis.

  10. Oral focal epithelial hyperplasia: report of 3 cases with human papillomavirus DNA sequencing analysis.

    Science.gov (United States)

    Gültekin, S E; Tokman Yildirim, Benay; Sarisoy, S

    2011-01-01

    Focal epithelial hyperplasia (FEH), or Heck's disease, is a benign proliferative viral infection of the oral mucosa that is related to Human Papil-lomavirus (HPV), mainly subtypes 13 and 32. Although this condition is known to exist in numerous populations and ethnic groups, the reported cases among Caucasians are relatively rare. It presents as asymptomatic papules or nodules on the oral mucosa, gingiva, tongue, and lips. Histopathologically, it is characterized by parakeratosis, epithelial hyperplasia, focal acanthosis, fusion, and horizontal outgrowth of epithelial ridges and the cells named mitozoids. The purpose of this case report was to present 3 cases of focal epithelial hyperplasia in a pediatric age group. Histopathological and clinical features of cases are discussed and DNA sequencing analysis is reported in which HPV 13, HPV 32, and HPV 11 genomes are detected.

  11. Detection of Abnormal Resting-state Networks in Individual Patients Suffering from Focal Epilepsy: An Initial Step toward Individual Connectivity Assessment

    Directory of Open Access Journals (Sweden)

    Christian eDansereau

    2014-12-01

    Full Text Available The spatial coherence of spontaneous slow fluctuations in the blood-oxygen-level dependent (BOLD signal at rest is routinely used to characterize the underlying resting-state networks (RSNs. Studies have demonstrated that these patterns are organized in space and highly reproducible from subject to subject. Moreover, RSNs reorganizations have been suggested in pathological conditions. Comparisons of RSNs organization have been performed between groups of subjects but have rarely been applied at the individual level, a step required for clinical application. Defining the notion of modularity as the organization of brain activity in stable networks, we propose DANI - Detection of Abnormal Networks in Individuals - to identify modularity changes at the individual level. The stability of each RSN was estimated using a spatial clustering method: BASC Bootstrap Analysis of Stable Clusters (Bellec et al Neuroimage,51(3,2010. Our contributions consisted in (i providing functional maps of the most stable cores of each networks and (ii in detecting abnormal individual changes in networks organization when compared to a population of healthy controls. DANI was first evaluated using realistic simulated data, showing that focussing on a conservative core size (50% most stable regions improved the sensitivity to detect modularity changes. DANI was then applied to resting state fMRI data of six patients with focal epilepsy who underwent multimodal assessment using simultaneous EEG/fMRI acquisition followed by surgery. Only patient with a seizure free outcome were selected and the resected area was identified using a post-operative MRI. DANI automatically detected abnormal changes in 5 out of 6 patients, with excellent sensitivity, showing for each of them at least one abnormal lateralized network closely related to the epileptic focus. For each patient, we also detected some distant networks as abnormal, suggesting some remote reorganization in the epileptic

  12. Comparison of blood flow and distribution of benzodiazepine receptors in focal epilepsy: Preliminary results of a SPECT study. Vergleich von Blutfluss und Benzodiazepin-Rezeptorverteilung bei fokaler Epilepsie: Vorlaeufige Ergebnisse einer SPECT-Studie

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    Bartenstein, P.; Schober, O.; Lottes, G.; Boettger, I. (Muenster Univ. (Germany, F.R.). Klinik und Poliklinik fuer Nuklearmedizin); Ludolph, A. (Muenster Univ. (Germany, F.R.). Klinik und Poliklinik fuer Neurologie); Beer, H.F. (Paul Scherrer Inst., Wuerenlingen (Switzerland))

    1989-10-01

    {sup 99m}Tc-HMPAO-SPECT and SPECT with the {sup 123}I-labelled benzodiazepine (Bz) receptor ligand Ro 16-0154 were performed in 10 patients suffering from partial epilepsy, without cerebral lesion in MRT or CT.2 h p.i. of Ro 16-0154 the distribution of activity correlated with the known distribution of Bz-receptors in the human brain. Perfusion and receptor-binding were found decreased in 7 patients of each study in the suspicious brain-area. {sup 123}I-labelled Ro 16-0154 is suitable for Bz-receptor mapping by SPECT. The decrease of Bz-receptor binding in epileptic foci, as described in PET-studies, was also detected by SPECT in 7 of 10 patients. (orig.).

  13. Stretch activates human myometrium via ERK, caldesmon and focal adhesion signaling.

    Directory of Open Access Journals (Sweden)

    Yunping Li

    Full Text Available An incomplete understanding of the molecular mechanisms responsible for myometrial activation from the quiescent pregnant state to the active contractile state during labor has hindered the development of effective therapies for preterm labor. Myometrial stretch has been implicated clinically in the initiation of labor and the etiology of preterm labor, but the molecular mechanisms involved in the human have not been determined. We investigated the mechanisms by which gestation-dependent stretch contributes to myometrial activation, by using human uterine samples from gynecologic hysterectomies and Cesarean sections. Here we demonstrate that the Ca requirement for activation of the contractile filaments in human myometrium increases with caldesmon protein content during gestation and that an increase in caldesmon phosphorylation can reverse this inhibitory effect during labor. By using phosphotyrosine screening and mass spectrometry of stretched human myometrial samples, we identify 3 stretch-activated focal adhesion proteins, FAK, p130Cas, and alpha actinin. FAK-Y397, which signals integrin engagement, is constitutively phosphorylated in term human myometrium whereas FAK-Y925, which signals downstream ERK activation, is phosphorylated during stretch. We have recently identified smooth muscle Archvillin (SmAV as an ERK regulator. A newly produced SmAV-specific antibody demonstrates gestation-specific increases in SmAV protein levels and stretch-specific increases in SmAV association with focal adhesion proteins. Thus, whereas increases in caldesmon levels suppress human myometrium contractility during pregnancy, stretch-dependent focal adhesion signaling, facilitated by the ERK activator SmAV, can contribute to myometrial activation. These results suggest that focal adhesion proteins may present new targets for drug discovery programs aimed at regulation of uterine contractility.

  14. 局灶性皮质发育障碍致痫的蛋白质组学研究%Proteomics of epilepsy induced by focal disorder of cortical development

    Institute of Scientific and Technical Information of China (English)

    黄艳军; 郑帼; 卢孝鹏; 陆海英; 莫绪明

    2010-01-01

    目的 寻找皮质发育障碍致痫的疾病相关差异蛋白,以期寻找抗癫痫治疗的新靶点,同时寻找早期十预脑皮质发育障碍新的手段.方法 利用液氮损伤诱导皮质发育障碍,应用比较蛋白质组学方法研究致痫组和对照组皮质蛋白表达图谱差异,并对发现的差异蛋白质进行分析和鉴定.结果皮质发育障碍致痫组筛选到103个差异表达蛋白质斑点,其中64个在致痫组表达上调,39个在致痈组表达下调.有12个蛋白质最终鉴定确认,分别是lissencephaly-lprotein (LIS-1)、synaptotagmin Ⅳ、胶质纤维酸性蛋白(GFAP)、热休克蛋白70(HSP70)、生长相关蛋白-43(GAP-43)、neuronal enolase、tubulin beta chain、谷氨酰胺合成酶、神经元胞浆蛋白、电压依赖性阴离子通道1(VDAC1)、丙酮酸激酶(PK)、neurofilament light polypeptide.结论 12个差异蛋白鉴定有利于进一步研究皮质发育障碍与癫痫关系,该结果也为运用蛋白质组学方法寻找皮质发育障碍致痫治疗新靶点提供了实验数据.%Objective To explore the proteomics of epilepsy induced by focal disorder of cortical development (DCD) in revealing the molecular mechanisms of epilepsy caused by DCD and looking for the candidate targets and new therapeutic approaches in clinical practice. Methods Animal models of DCD were established and induced by liquid nitrogen in healthy Wistar newborn rats. Animal model of DCD were divided into epilepsy group and control group according to Racine classification. The proteomics maps of the frontal cortex were obtained in the epilepsy group and the control group by two-dimensional electrophoresis and both Coomassie brilliant blue G250 and silver dying. The proteomics profiles of frontal cortex were preliminary analyzed with PD Quest 7.3 analysis package. The differentially expressed protein spots were excised from gel and digested with trypsin under optimal conditions. The masses of tryptic-digested peptides

  15. P-gp Protein Expression and Transport Activity in Rodent Seizure Models and Human Epilepsy.

    Science.gov (United States)

    Hartz, Anika M S; Pekcec, Anton; Soldner, Emma L B; Zhong, Yu; Schlichtiger, Juli; Bauer, Bjoern

    2017-03-02

    A cure for epilepsy is currently not available, and seizure genesis, seizure recurrence, and resistance to antiseizure drugs remain serious clinical problems. Studies show that the blood-brain barrier is altered in animal models of epilepsy and in epileptic patients. In this regard, seizures increase expression of blood-brain barrier efflux transporters such as P-glycoprotein (P-gp), which is thought to reduce brain uptake of antiseizure drugs, and thus, contribute to antiseizure drug resistance. The goal of the current study was to assess the viability of combining in vivo and ex vivo preparations of isolated brain capillaries from animal models of seizures and epilepsy as well as from patients with epilepsy to study P-gp at the blood-brain barrier. Exposing isolated rat brain capillaries to glutamate ex vivo upregulated P-gp expression to levels that were similar to those in capillaries isolated from rats that had status epilepticus or chronic epilepsy. Moreover, the fold-increase in P-gp protein expression seen in animal models is consistent with the fold-increase in P-gp observed in human brain capillaries isolated from patients with epilepsy compared to age-matched control individuals. Overall, the in vivo/ex vivo approach presented here allows detailed analysis of the mechanisms underlying seizure-induced changes of P-gp expression and transport activity at the blood-brain barrier. This approach can be extended to other blood-brain barrier proteins that might contribute to drug-resistant epilepsy or other CNS disorders as well.

  16. 77 FR 59197 - Epilepsy Program

    Science.gov (United States)

    2012-09-26

    ... HUMAN SERVICES Health Resources and Services Administration Epilepsy Program AGENCY: Health Resources... to the Epilepsy Foundation of America. SUMMARY: The Health Resources and Services Administration will be issuing noncompetitive supplemental funding under the Maternal and Child Health Bureau's Epilepsy...

  17. Relevance of the Glutathione System in Temporal Lobe Epilepsy: Evidence in Human and Experimental Models

    Directory of Open Access Journals (Sweden)

    Noemí Cárdenas-Rodríguez

    2014-01-01

    Full Text Available Oxidative stress, which is a state of imbalance in the production of reactive oxygen species and nitrogen, is induced by a wide variety of factors. This biochemical state is associated with diseases that are systemic as well as diseases that affect the central nervous system. Epilepsy is a chronic neurological disorder, and temporal lobe epilepsy represents an estimated 40% of all epilepsy cases. Currently, evidence from human and experimental models supports the involvement of oxidative stress during seizures and in the epileptogenesis process. Hence, the aim of this review was to provide information that facilitates the processing of this evidence and investigate the therapeutic impact of the biochemical status for this specific pathology.

  18. Relevance of the Glutathione System in Temporal Lobe Epilepsy: Evidence in Human and Experimental Models

    Science.gov (United States)

    Cárdenas-Rodríguez, Noemí; Coballase-Urrutia, Elvia; Pérez-Cruz, Claudia; Montesinos-Correa, Hortencia; Rivera-Espinosa, Liliana; Sampieri, Aristides; Carmona-Aparicio, Liliana

    2014-01-01

    Oxidative stress, which is a state of imbalance in the production of reactive oxygen species and nitrogen, is induced by a wide variety of factors. This biochemical state is associated with diseases that are systemic as well as diseases that affect the central nervous system. Epilepsy is a chronic neurological disorder, and temporal lobe epilepsy represents an estimated 40% of all epilepsy cases. Currently, evidence from human and experimental models supports the involvement of oxidative stress during seizures and in the epileptogenesis process. Hence, the aim of this review was to provide information that facilitates the processing of this evidence and investigate the therapeutic impact of the biochemical status for this specific pathology. PMID:25538816

  19. Focal epithelial hyperplasia (Heck's disease): report of two cases with PCR detection of human papillomavirus DNA.

    Science.gov (United States)

    Jayasooriya, P R; Abeyratne, S; Ranasinghe, A W; Tilakaratne, W M

    2004-07-01

    Focal epithelial hyperplasia (FEH) (Heck's disease) is essentially a benign oral infection produced by the human papillomavirus (HPV). Although this condition is known to exist in numerous populations and ethnic groups, it is relatively rare in South-East Asia. The following report is based on two cases of adult FEH with histopathological features in favour of the disease. In addition, polymerase chain reaction was performed to detect the presence of HPV DNA in the lesions in order to confirm the histopathological diagnosis.

  20. Diagnostic methods for extra-temporal neocortical focal epilepsies: present and future Métodos diagnósticos das epilepsias focais neocorticais extratemporais: presente e futuro

    Directory of Open Access Journals (Sweden)

    Ricardo André Amorim Leite

    2010-02-01

    Full Text Available The progress of epilepsies diagnosis has been great, but, amongst the diagnostic detailing that demand research, one of the most important is the essential lateralization and localization of epileptogenic zone, considered as the cerebral cortex region, that removed, will result in a free state of seizures. The present study aims to analyze the possible uses of proton spectroscopy for clinical and pre-surgical evaluation of focal extratemporal epilepsies, since this group presents the highest difficulty degree for lateralizing and locating epileptogenic zones. In almost all cases, a non invasive diagnosis can be performed using routine electroencephalography, video-electroencephalography - considered as gold standard, and magnetic resonance imaging. However, when the results of these exams are contradictory, some patients need invasive techniques, as the intra-cranial video-EEG, using deep electrodes, sub-dural strip and grid, that are associated with increased diagnostic cost and risk of complications, as cerebral hemorrhages and intra-cranial infections. Proton spectroscopy appears as a possibility, given its capacity to evaluate cerebral metabolism, by N-acetyl-aspartate (NAA, creatine (Cre and choline (Cho concentrations, amongst other metabolites. This non invasive method may provide time reduction of this evaluation and reliable level improvement for this topographical diagnosis.Tem sido grande o progresso no diagnóstico das epilepsias, mas dentre os detalhamentos diagnósticos a exigir pesquisas, estão a lateralização e a localização precisas da zona epileptogênica, considerada como a região do córtex cerebral que, removida, irá resultar num estado livre de crises. Por meio de revisão da literatura, o objetivo deste estudo é expor e analisar os métodos diagnósticos das epilepsias neocorticais extratemporais, dadas as características que as tornam mais complexas do que as epilepsias temporais visto que estas apresentam o

  1. International Veterinary Epilepsy Task Force recommendations for a veterinary epilepsy-specific MRI protocol

    DEFF Research Database (Denmark)

    Rusbridge, Clare; Long, Sam; Jovanovik, Jelena;

    2015-01-01

    be adapted for both low and high field scanners. Standardisation of imaging will improve clinical communication and uniformity of case definition between research studies. A 6-7 sequence epilepsy-specific MRI protocol for veterinary patients is proposed and further advanced MR and functional imaging......Epilepsy is one of the most common chronic neurological diseases in veterinary practice. Magnetic resonance imaging (MRI) is regarded as an important diagnostic test to reach the diagnosis of idiopathic epilepsy. However, given that the diagnosis requires the exclusion of other differentials...... for seizures, the parameters for MRI examination should allow the detection of subtle lesions which may not be obvious with existing techniques. In addition, there are several differentials for idiopathic epilepsy in humans, for example some focal cortical dysplasias, which may only apparent with special...

  2. Surgery for childhood epilepsy

    Directory of Open Access Journals (Sweden)

    Sita Jayalakshmi

    2014-01-01

    Full Text Available Approximately 60% of all patients with epilepsy suffer from focal epilepsy syndromes. In about 15% of these patients, the seizures are not adequately controlled with antiepileptic drugs; such patients are potential candidates for surgical treatment and the major proportion is in the pediatric group (18 years old or less. Epilepsy surgery in children who have been carefully chosen can result in either seizure freedom or a marked (>90% reduction in seizures in approximately two-thirds of children with intractable seizures. Advances in structural and functional neuroimaging, neurosurgery, and neuroanaesthesia have improved the outcomes of surgery for children with intractable epilepsy. Early surgery improves the quality of life and cognitive and developmental outcome and allows the child to lead a normal life. Surgically remediable epilepsies should be identified early and include temporal lobe epilepsy with hippocampal sclerosis, lesional temporal and extratemporal epilepsy, hemispherical epilepsy, and gelastic epilepsy with hypothalamic hamartoma. These syndromes have both acquired and congenital etiologies and can be treated by resective or disconnective surgery. Palliative procedures are performed in children with diffuse and multifocal epilepsies who are not candidates for resective surgery. The palliative procedures include corpus callosotomy and vagal nerve stimulation while deep brain stimulation in epilepsy is still under evaluation. For children with "surgically remediable epilepsy," surgery should be offered as a procedure of choice rather than as a treatment of last resort.

  3. DNA Methylation Profiling Reveals Correlation of Differential Methylation Patterns with Gene Expression in Human Epilepsy.

    Science.gov (United States)

    Wang, Liang; Fu, Xinwei; Peng, Xi; Xiao, Zheng; Li, Zhonggui; Chen, Guojun; Wang, Xuefeng

    2016-05-01

    DNA methylation plays important roles in regulating gene expression and has been reported to be related with epilepsy. This study aimed to define differential DNA methylation patterns in drug-refractory epilepsy patients and to investigate the role of DNA methylation in human epilepsy. We performed DNA methylation profiling in brain tissues from epileptic and control patients via methylated-cytosine DNA immunoprecipitation microarray chip. Differentially methylated loci were validated by bisulfite sequencing PCR, and the messenger RNA (mRNA) levels of candidate genes were evaluated by reverse transcriptase PCR. We found 224 genes that showed differential DNA methylation between epileptic patients and controls. Among the seven candidate genes, three genes (TUBB2B, ATPGD1, and HTR6) showed relative transcriptional regulation by DNA methylation. TUBB2B and ATPGD1 exhibited hypermethylation and decreased mRNA levels, whereas HTR6 displayed hypomethylation and increased mRNA levels in the epileptic samples. Our findings suggest that certain genes become differentially regulated by DNA methylation in human epilepsy.

  4. Omega-3 fatty acids (ῳ-3 fatty acids) in epilepsy: animal models and human clinical trials.

    Science.gov (United States)

    DeGiorgio, Christopher M; Taha, Ameer Y

    2016-10-01

    There is growing interest in alternative and nutritional therapies for drug resistant epilepsy. ῳ-3 fatty acids such as fish or krill oil are widely available supplements used to lower triglycerides and enhance cardiovascular health. ῳ-3 fatty acids have been studied extensively in animal models of epilepsy. Yet, evidence from randomized controlled clinical trials in epilepsy is at an early stage. This report focuses on the key ῳ-3 fatty acids DHA and EPA, their incorporation into the lipid bilayer, modulation of ion channels, and mechanisms of action in reducing excitability within the central nervous system. This paper presents pre-clinical evidence from mouse, rat, and canine models, and reports the efficacy of n-3 fatty acids in randomized controlled clinical trials. An English language search of PubMed and Google scholar for the years 1981-2016 was performed for animal studies and human randomized controlled clinical trials. Expert commentary: Basic science and animal models provide a cogent rationale and substantial evidence for a role of ῳ-3 fatty acids in reducing seizures. Results in humans are limited. Recent Phase II RCT evidence suggests that low to moderate dose of ῳ-3 fatty acids reduce seizures; however, larger multicenter randomized trials are needed to confirm or refute the evidence. The safety, health effects, low cost and ease of use make ῳ-3 fatty acids an intriguing alternative therapy for drug resistant epilepsy. Though safety of profile is excellent, the human data is not yet sufficient to support efficacy in drug resistant epilepsy at this time.

  5. Neuroimaging of epilepsy

    Science.gov (United States)

    Cendes, Fernando; Theodore, William H.; Brinkmann, Benjamin H.; Sulc, Vlastimil; Cascino, Gregory D.

    2017-01-01

    Imaging is pivotal in the evaluation and management of patients with seizure disorders. Elegant structural neuroimaging with magnetic resonance imaging (MRI) may assist in determining the etiology of focal epilepsy and demonstrating the anatomical changes associated with seizure activity. The high diagnostic yield of MRI to identify the common pathological findings in individuals with focal seizures including mesial temporal sclerosis, vascular anomalies, low-grade glial neoplasms and malformations of cortical development has been demonstrated. Positron emission tomography (PET) is the most commonly performed interictal functional neuroimaging technique that may reveal a focal hypometabolic region concordant with seizure onset. Single photon emission computed tomography (SPECT) studies may assist performance of ictal neuroimaging in patients with pharmacoresistant focal epilepsy being considered for neurosurgical treatment. This chapter highlights neuroimaging developments and innovations, and provides a comprehensive overview of the imaging strategies used to improve the care and management of people with epilepsy. PMID:27430454

  6. Neuroimaging of epilepsy.

    Science.gov (United States)

    Cendes, Fernando; Theodore, William H; Brinkmann, Benjamin H; Sulc, Vlastimil; Cascino, Gregory D

    2016-01-01

    Imaging is pivotal in the evaluation and management of patients with seizure disorders. Elegant structural neuroimaging with magnetic resonance imaging (MRI) may assist in determining the etiology of focal epilepsy and demonstrating the anatomical changes associated with seizure activity. The high diagnostic yield of MRI to identify the common pathological findings in individuals with focal seizures including mesial temporal sclerosis, vascular anomalies, low-grade glial neoplasms and malformations of cortical development has been demonstrated. Positron emission tomography (PET) is the most commonly performed interictal functional neuroimaging technique that may reveal a focal hypometabolic region concordant with seizure onset. Single photon emission computed tomography (SPECT) studies may assist performance of ictal neuroimaging in patients with pharmacoresistant focal epilepsy being considered for neurosurgical treatment. This chapter highlights neuroimaging developments and innovations, and provides a comprehensive overview of the imaging strategies used to improve the care and management of people with epilepsy. © 2016 Elsevier B.V. All rights reserved.

  7. Differential DNA methylation profiles of coding and non-coding genes define hippocampal sclerosis in human temporal lobe epilepsy.

    Science.gov (United States)

    Miller-Delaney, Suzanne F C; Bryan, Kenneth; Das, Sudipto; McKiernan, Ross C; Bray, Isabella M; Reynolds, James P; Gwinn, Ryder; Stallings, Raymond L; Henshall, David C

    2015-03-01

    Temporal lobe epilepsy is associated with large-scale, wide-ranging changes in gene expression in the hippocampus. Epigenetic changes to DNA are attractive mechanisms to explain the sustained hyperexcitability of chronic epilepsy. Here, through methylation analysis of all annotated C-phosphate-G islands and promoter regions in the human genome, we report a pilot study of the methylation profiles of temporal lobe epilepsy with or without hippocampal sclerosis. Furthermore, by comparative analysis of expression and promoter methylation, we identify methylation sensitive non-coding RNA in human temporal lobe epilepsy. A total of 146 protein-coding genes exhibited altered DNA methylation in temporal lobe epilepsy hippocampus (n = 9) when compared to control (n = 5), with 81.5% of the promoters of these genes displaying hypermethylation. Unique methylation profiles were evident in temporal lobe epilepsy with or without hippocampal sclerosis, in addition to a common methylation profile regardless of pathology grade. Gene ontology terms associated with development, neuron remodelling and neuron maturation were over-represented in the methylation profile of Watson Grade 1 samples (mild hippocampal sclerosis). In addition to genes associated with neuronal, neurotransmitter/synaptic transmission and cell death functions, differential hypermethylation of genes associated with transcriptional regulation was evident in temporal lobe epilepsy, but overall few genes previously associated with epilepsy were among the differentially methylated. Finally, a panel of 13, methylation-sensitive microRNA were identified in temporal lobe epilepsy including MIR27A, miR-193a-5p (MIR193A) and miR-876-3p (MIR876), and the differential methylation of long non-coding RNA documented for the first time. The present study therefore reports select, genome-wide DNA methylation changes in human temporal lobe epilepsy that may contribute to the molecular architecture of the epileptic brain.

  8. Differential DNA methylation profiles of coding and non-coding genes define hippocampal sclerosis in human temporal lobe epilepsy

    Science.gov (United States)

    Miller-Delaney, Suzanne F.C.; Bryan, Kenneth; Das, Sudipto; McKiernan, Ross C.; Bray, Isabella M.; Reynolds, James P.; Gwinn, Ryder; Stallings, Raymond L.

    2015-01-01

    Temporal lobe epilepsy is associated with large-scale, wide-ranging changes in gene expression in the hippocampus. Epigenetic changes to DNA are attractive mechanisms to explain the sustained hyperexcitability of chronic epilepsy. Here, through methylation analysis of all annotated C-phosphate-G islands and promoter regions in the human genome, we report a pilot study of the methylation profiles of temporal lobe epilepsy with or without hippocampal sclerosis. Furthermore, by comparative analysis of expression and promoter methylation, we identify methylation sensitive non-coding RNA in human temporal lobe epilepsy. A total of 146 protein-coding genes exhibited altered DNA methylation in temporal lobe epilepsy hippocampus (n = 9) when compared to control (n = 5), with 81.5% of the promoters of these genes displaying hypermethylation. Unique methylation profiles were evident in temporal lobe epilepsy with or without hippocampal sclerosis, in addition to a common methylation profile regardless of pathology grade. Gene ontology terms associated with development, neuron remodelling and neuron maturation were over-represented in the methylation profile of Watson Grade 1 samples (mild hippocampal sclerosis). In addition to genes associated with neuronal, neurotransmitter/synaptic transmission and cell death functions, differential hypermethylation of genes associated with transcriptional regulation was evident in temporal lobe epilepsy, but overall few genes previously associated with epilepsy were among the differentially methylated. Finally, a panel of 13, methylation-sensitive microRNA were identified in temporal lobe epilepsy including MIR27A, miR-193a-5p (MIR193A) and miR-876-3p (MIR876), and the differential methylation of long non-coding RNA documented for the first time. The present study therefore reports select, genome-wide DNA methylation changes in human temporal lobe epilepsy that may contribute to the molecular architecture of the epileptic brain. PMID

  9. Imaging of the epilepsies

    Energy Technology Data Exchange (ETDEWEB)

    Urbach, H. [University of Bonn Medical Center, Department of Radiology/Neuroradiology, Bonn (Germany)

    2005-03-01

    Imaging of epilepsy patients is challenging, since epileptogenic lesions (defined as structural lesions causally related to the epilepsy syndrome) may be small and often do not change during life. Prior clinical information about the epilepsy syndrome and the semiology of the seizures is needed in order to plan the examination properly. The effort to detect an epileptogenic lesion is directed to partial (focal) epilepsy syndromes whereas - by definition - no lesion is identified in idiopathic epilepsies. Most patients with partial epilepsies suffer from mesial temporal lobe epilepsies. In these patients, 2- to 3-mm-thick T2-weighted and fluid-attenuated inversion-recovery (FLAIR) fast spin echo slices along or perpendicular to the temporal lobe length axis have the highest diagnostic efficacy. In contrast, in patients with extratemporal lobe epilepsies perpendicular FLAIR slices through the anatomic region, from which, due to clinical and EEG criteria, the seizures are likely to originate, are preferred. The imaging features of common epileptogenic lesions (hippocampal sclerosis, long-term epilepsy-associated tumours, focal cortical dysplasias, vascular malformations, encephalitis including limbic and Rasmussen's encephalitis, gyral scarring including ulegyria) are detailed in the second section of this paper. (orig.)

  10. Patterns of depressive symptoms in epilepsy

    Directory of Open Access Journals (Sweden)

    Nikolaos I. Triantafyllou

    2013-04-01

    Full Text Available Objective: The purpose of this study was to determine the nature and extent of depressive symptoms among patients with epilepsy.Methods:Ninety patients were investigated over a three-month period: 42 were suffering from generalized epilepsy, 29 from focal epilepsy and 19 from undetermined epilepsy. All completed the Zung self-rating scale for assessment of the depressive symptoms.Results:Sixty-seven patients felt stigmatized because of epilepsy (67%: 73.6% in the undetermined epilepsy group, 55.1% in the focal epilepsy group and 88% in the generalized epilepsy group. Moreover, among the 90 epileptic patients studied, symptoms of irritability, indecisiveness, personal devaluation and emptiness showed a constant increasing trend for their presence from the undetermined epilepsy group through the generalized epilepsy group to the focal epilepsy group.Conclusions:These findings indicate that although the focal epilepsy patients felt less stigmatized, they did not differ greatly in terms of depressive symptoms, in relation to the undetermined epilepsy and generalized epilepsy patients.

  11. Characterization of human papillomavirus type 13 from focal epithelial hyperplasia Heck lesions.

    OpenAIRE

    Pfister, H.; Hettich, I; Runne, U.; Gissmann, L; Chilf, G N

    1983-01-01

    Focal epithelial hyperplasia Heck lesions of a Turkish patient were shown to contain papillomavirus-specific DNA, which was molecularly cloned into bacteriophage lambda. It proved to be related to human papillomavirus (HPV) type 6 DNA and HPV type 11 DNA. Reassociation kinetics revealed a cross-hybridization of 4 and 3%, respectively. There was no cross-reactivity with HPV type 1, 2, 3, 4, 5, 8, or 10. This papillomavirus type will be referred to as HPV type 13. The DNA was characterized by c...

  12. A method for u-fiber quantification from 7 T diffusion-weighted MRI data tested in patients with nonlesional focal epilepsy.

    Science.gov (United States)

    O'Halloran, Rafael; Feldman, Rebecca; Marcuse, Lara; Fields, Madeline; Delman, Bradley; Frangou, Sophia; Balchandani, Priti

    2017-05-24

    In this methods development, we present an ultra-high-field, diffusion-weighted MRI method to quantitatively assess u-fibers and use it to compare u-fiber counts in nonlesional epilepsy patients with controls. Emerging evidence implicates white matter abnormalities in nonlesional epilepsy, including the short-range, cortical-cortical connections, or u-fibers. Eight patients with nonlesional epilepsy and eight demographically matched controls underwent 7 T MRI consisting of a T1-weighted sequence (0.7 mm isotropic resolution) and high-angular-resolved diffusion-weighted MRI (1.05 mm isotropic resolution, 68 directions). MRI data were used to quantify u-fiber counts in known u-fiber populations on the basis of an atlas and fiber tractography. From tractography, connectivity matrices summarizing the u-fiber counts were computed. Quantitative group comparisons were performed on the connectivity matrices. U-fiber counts were found to be lower on average in patients with epilepsy than in healthy controls. The results indicate that the density or the number of u-fibers is reduced in patients with nonlesional epilepsy. Future work will focus on histological validation and determining whether differences in u-fiber counts can be used clinically to noninvasively identify seizure-onset zones.

  13. Fourier transform infrared imaging of focal lesions in Human osteoarthritic cartilage

    Directory of Open Access Journals (Sweden)

    David-Vaudey E.

    2005-11-01

    Full Text Available Fourier Transform Infrared Imaging (FTIRI is a new method for quantitatively assessing the spatial-chemical composition of complex materials. This technique has been applied to examine the feasibility of measuring changes in the composition and distribution of collagen and proteoglycan macromolecules in human osteoarthritic cartilage. Human cartilage was acquired post-operatively from total joint replacement patients. Samples were taken at the site of a focal lesion, adjacent to the lesion, and from relatively healthy cartilage away from the lesion. Sections were prepared for FTIRI and histochemical grading. FTIRI spectral images were acquired for the superficial, intermediate, and deep layers for each sample. Euclidean distance mapping and quantitative partial least squares analysis (PLS were performed using reference spectra for type-II collagen and chondroitin 6-sulphate (CS6. FTIRI results were correlated to the histology-based Mankin scoring system. PLS analysis found relatively low relative concentrations of collagen (38 ± 10% and proteoglycan (22 ± 9% in osteoarthritic cartilage. Focal lesions were generally found to contain less CS6 compared to cartilage tissue adjacent to the lesion. Loss of proteoglycan content was well correlated to histological Mankin scores (r=0.69, p<0.0008. The evaluation of biological tissues with FTIRI can provide unique quantitative information on how disease can affect biochemical distribution and composition. This study has demonstrated that FTIRI is useful in quantitatively assessing pathology-related changes in the composition and distribution of primary macromolecular components of human osteoarthritic cartilage.

  14. History of epilepsy: nosological concepts and classification.

    Science.gov (United States)

    Wolf, Peter

    2014-09-01

    The purpose of this review is to provide insight into the development of the nosological views of the epilepsies, from prehistoric times to the present, and highlight how these views are reflected by terminology and classification. Even the earliest written documents reveal awareness that there are multiple forms of epilepsy, and it is surprising that they should be included under the same disease concept, perhaps because the generalised tonic-clonic seizure served as a common denominator. The Hippocratic doctrine that the seat of epilepsy is in the brain may be rooted in earlier knowledge of traumatic seizures. Galenus differentiated cases where the brain was the primary site of origin from others where epilepsy was concomitant with illness in other parts of the body. This laid the fundament for the distinction between idiopathic and symptomatic epilepsies, the definition of which changed considerably over time. The description of the multiple seizure types as they are known at present started in the late 18th century. Attempts to classify seizure types began in the late 19th century, when Jackson formulated a comprehensive pathophysiological definition of epilepsy. Electroencephalography supported a second dichotomy, between seizures with localised onset and others with immediate involvement of both hemispheres which became known as "generalised". In recent years, advanced methods of studying brain function in vivo, including the generation of both spontaneous and reflex epileptic seizures, have revolutionised our understanding of focal and "generalised" human ictogenesis. Both involve complex neuronal networks which are currently being investigated.

  15. Animal models of epilepsy: use and limitations

    Directory of Open Access Journals (Sweden)

    Kandratavicius L

    2014-09-01

    Full Text Available Ludmyla Kandratavicius,1 Priscila Alves Balista,1 Cleiton Lopes-Aguiar,1 Rafael Naime Ruggiero,1 Eduardo Henrique Umeoka,2 Norberto Garcia-Cairasco,2 Lezio Soares Bueno-Junior,1 Joao Pereira Leite11Department of Neurosciences and Behavior, 2Department of Physiology, Ribeirao Preto School of Medicine, University of Sao Paulo, Ribeirao Preto, BrazilAbstract: Epilepsy is a chronic neurological condition characterized by recurrent seizures that affects millions of people worldwide. Comprehension of the complex mechanisms underlying epileptogenesis and seizure generation in temporal lobe epilepsy and other forms of epilepsy cannot be fully acquired in clinical studies with humans. As a result, the use of appropriate animal models is essential. Some of these models replicate the natural history of symptomatic focal epilepsy with an initial epileptogenic insult, which is followed by an apparent latent period and by a subsequent period of chronic spontaneous seizures. Seizures are a combination of electrical and behavioral events that are able to induce chemical, molecular, and anatomic alterations. In this review, we summarize the most frequently used models of chronic epilepsy and models of acute seizures induced by chemoconvulsants, traumatic brain injury, and electrical or sound stimuli. Genetic models of absence seizures and models of seizures and status epilepticus in the immature brain were also examined. Major uses and limitations were highlighted, and neuropathological, behavioral, and neurophysiological similarities and differences between the model and the human equivalent were considered. The quest for seizure mechanisms can provide insights into overall brain functions and consciousness, and animal models of epilepsy will continue to promote the progress of both epilepsy and neurophysiology research.Keywords: epilepsy, animal model, pilocarpine, kindling, neurodevelopment

  16. A Case Report of Focal Epithelial Hyperplasia (Heck’s disease) with PCR Detection of Human Papillomavirus

    OpenAIRE

    Ozden, Bora; Gunduz, Kaan; Gunhan, Omer; Ozden, Feyza Otan

    2011-01-01

    Focal epithelial hyperplasia or Heck’s disease, is a rare viral infection of the oral mucosa caused by human papillomavirus. The frequency of this disease varies widely from one geographic region to another. In Caucasians there have been only few cases reported. This paper reports a case of focal epithelial hyperplasia and demonstrates the association with HPV subtype 32 through polymerase chain reaction (PCR) and sequencing of PCR products. A 7-year-old Caucasian girl was admitted to our cli...

  17. White matter abnormalities at a regional and voxel level in focal and generalized epilepsy : A systematic review and meta-analysis

    NARCIS (Netherlands)

    Slinger, Geertruida; Sinke, Michel R T; Braun, Kees P J|info:eu-repo/dai/nl/207237239; Otte, Willem M.|info:eu-repo/dai/nl/168455706

    2016-01-01

    Objective Since the introduction of diffusion tensor imaging, white matter abnormalities in epilepsy have been studied extensively. However, the affected areas reported, the extent of abnormalities and the association with relevant clinical parameters are highly variable. We aimed to obtain a more

  18. Strong Memory in Time Series of Human Magnetoencephalograms Can Identify Photosensitive Epilepsy

    CERN Document Server

    Yulmetyev, R M; Hänggi, P; Khusaenova, E V; Shimojo, S; Yulmetyeva, D G

    2006-01-01

    o discuss the salient role of the statistical memory effects in the human brain functioning we have analyzed a set of stochastic memory quantifiers that reflects the dynamical characteristics of neuromagnetic brain responses to a flickering stimulus of different color combinations from a group of control subjects which is contrasted with those from a patient with photosensitive epilepsy (PSE). We have discovered the emergence of strong memory and the accompanying transition to a regular and robust regime of chaotic behavior of the signals in the separate areas for a patient with PSE. This finding most likely identifies the regions of the location the protective mechanism in a human organism against occurrence of PSE.

  19. Activity of the anticonvulsant lacosamide in experimental and human epilepsy via selective effects on slow Na(+) channel inactivation.

    Science.gov (United States)

    Holtkamp, Dominik; Opitz, Thoralf; Niespodziany, Isabelle; Wolff, Christian; Beck, Heinz

    2017-01-01

    In human epilepsy, pharmacoresistance to antiepileptic drug therapy is a major problem affecting ~30% of patients with epilepsy. Many classical antiepileptic drugs target voltage-gated sodium channels, and their potent activity in inhibiting high-frequency firing has been attributed to their strong use-dependent blocking action. In chronic epilepsy, a loss of use-dependent block has emerged as a potential cellular mechanism of pharmacoresistance for anticonvulsants acting on voltage-gated sodium channels. The anticonvulsant drug lacosamide (LCM) also targets sodium channels, but has been shown to preferentially affect sodium channel slow inactivation processes, in contrast to most other anticonvulsants. We used whole-cell voltage clamp recordings in acutely isolated cells to investigate the effects of LCM on transient Na(+) currents. Furthermore, we used whole-cell current clamp recordings to assess effects on repetitive action potential firing in hippocampal slices. We show here that LCM exerts its effects primarily via shifting the slow inactivation voltage dependence to more hyperpolarized potentials in hippocampal dentate granule cells from control and epileptic rats, and from patients with epilepsy. It is important to note that this activity of LCM was maintained in chronic experimental and human epilepsy. Furthermore, we demonstrate that the efficacy of LCM in inhibiting high-frequency firing is undiminished in chronic experimental and human epilepsy. Taken together, these results show that LCM exhibits maintained efficacy in chronic epilepsy, in contrast to conventional use-dependent sodium channel blockers such as carbamazepine. They also establish that targeting slow inactivation may be a promising strategy for overcoming target mechanisms of pharmacoresistance. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

  20. A longitudinal study of survival in belgian shepherds with genetic epilepsy

    DEFF Research Database (Denmark)

    Gulløv, Christina Hedal; Toft, Nils; Berendt, Mette

    2012-01-01

    Belgian Shepherds have focal genetic epilepsy. The prevalence of epilepsy has been estimated as 9.5% in the breed and as 33% in the family investigated. Dogs with epilepsy might have an increased risk of premature death.......Belgian Shepherds have focal genetic epilepsy. The prevalence of epilepsy has been estimated as 9.5% in the breed and as 33% in the family investigated. Dogs with epilepsy might have an increased risk of premature death....

  1. Relación entre electroencefalograma y neuroimagen en niños con epilepsia focal de difícil control Relation between electroencephalogram and neuroimaging present in children with epilepsy of difficult control

    Directory of Open Access Journals (Sweden)

    Ileana Valdivia Álvarez

    2009-09-01

    Full Text Available INTRODUCCIÓN. Las epilepsias focales son las más frecuentes en los niños, y la resistencia al tratamiento farmacológico puede estar presente hasta en el 30 % de los pacientes. Se realizó este estudio con el objetivo de dirigir la atención hacia la coincidencia topográfica de los paroxismos electroencefalográficos, con lesiones estructurales demostrables por neuroimagen, para facilitar el diseño de estrategias terapéuticas futuras. MÉTODOS. Se realizó un estudio descriptivo, longitudinal prospectivo, con 44 niños con diagnóstico de epilepsia focal de difícil control, ingresados en el Servicio de Neuropediatría del Hospital Pediátrico Docente «Juan M. Márquez», entre enero de 2003 y junio de 2007. Se realizaron estudios por electroencefalograma (EEG al ingreso y videoelectroencefalograma, además de estudios de neuroimagen por tomografía axial o resonancia magnética nuclear. RESULTADOS. Los paroxismos en EEG involucraron el lóbulo frontal hasta en el 68 % de los pacientes. En el 48 % de los pacientes, los paroxismos electroencefalográficos coinciden con zonas de alteración estructural según neuroimagen, más frecuentes en el lóbulo frontal. En el 25 % no hay coincidencia topográfica y en el 27 % no se precisan alteraciones estructurales. CONCLUSIONES. En las epilepsias focales de difícil control se debe prestar especial atención a las zonas elocuentes con coincidencia entre el EEG y la neuroimagen, para evaluar de forma temprana las alternativas quirúrgicas de tratamiento.INTRODUCTION: Focal epilepsies are the more frequent conditions in children and a pharmacologic treatment resistance could be present up to 30% of patients. Aim of present paper was to direct the attention to topographic coincidence of electroencephalographic paroxysms with structural lesions by neuroimaging facilitating the future therapeutical strategies design. METHODS: A descriptive, longitudinal, prospective study was conducted in 44 children

  2. Epilepsy Foundation

    Science.gov (United States)

    ... Become an Advocate for SUDEP Awareness Wellness Institute Healthy Eating Studio E: The Epilepsy Art Therapy Program Fitness and Exercise Important Information about epilepsy and seizures… About Epilepsy: ...

  3. Gastaut type idiopathic occipital epilepsy

    Directory of Open Access Journals (Sweden)

    I. V. Volkov

    2015-01-01

    Full Text Available Idiopathic occipital epilepsy is a rare epileptic syndrome. Its incidence in a Novosibirsk cohort of patients with idiopathic focal epilepsy is 0.9%. Objective: to present a clinical description of new cases of Gastaut syndrome, the types of its course, and treatment options in these patients. Patients and methods. The study covers 17 cases of Gastaut type idiopathic occipital epilepsy in 13 women and 4 men aged 11–53 years. Results. Among 17 cases we present 4 family cases with the disease. Three generations in 2 families were observed to have epilepsy, including Gastaut syndrome concurrent with childhood absence epilepsy. The adolescent onset of the disease was seen in most cases. Its main symptoms were focal visual seizures (100%, focal sensory seizures (58.9%, cephalalgia (47.1%, speech disorders (41.2%, and secondarily generalized convulsive seizures (35.3%. According to the frequency of seizures, the investigators identified 5 types of the course: single focal seizures, rare focal seizures with or without convulsions, frequent focal seizures with or without convulsions. The identity of the course of epilepsy was found in familial cases. 76.5% of the patients had a good quality of life: 41.2% of them were untreated while 35.3% were treated; no seizures were noted. 

  4. Focal epithelial hyperplasia in a human immuno-deficiency virus patient treated with laser surgery.

    Science.gov (United States)

    Galanakis, Alexandros; Palaia, Gaspare; Tenore, Gianluca; Vecchio, Alessandro Del; Romeo, Umberto

    2014-07-16

    Focal epithelial hyperplasia (FEH), or Heck's disease, is a rare disease of the oral mucosa; it is mostly found in children or young adults who are immunosuppressed and who live in regions with low socioeconomic status. It is characterized by asymptomatic papules on the oral mucosa, gingiva, tongue, and lips. Healing can be spontaneous, and treatment is indicated if there are aesthetic or functional complications. Human papillomavirus, especially genotypes 13 and 32, has been associated with FEH and is detected in the majority of lesions. Histopathologically, FEH is characterized by parakeratosis, epithelial hyperplasia, focal acanthosis, and fusion and horizontal outgrowth of epithelial ridges. A 37-year-old male patient was referred to the Department of Oral and Maxillofacial Sciences at the Sapienza University of Rome, complaining of numerous exophytic lesions in his mouth. He stated that the lesions were not painful but he had experienced occasional bleeding after incidental masticatory trauma. He had received no previous treatment for the oral lesions. His medical history revealed that he was human immuno-deficiency virus positive and was a smoker with numerous, asymptomatic oral papules clinically and histologically corresponding to FEH. The labial and buccal mucosa were especially affected by lesions. Surgical treatment was performed using a 532-nm potassium titanyl phosphate laser (SmartLite, Deka, Florence, Italy) in continuous mode with a 300 μm fiber and power of 1.4 W (power density 1980.22 W/cm(2)). After anesthesia without vasoconstrictors, the lesions were tractioned with sutures or an Allis clamp and then completely excised. The lesions were preserved in 10% formalin for histological examination, which confirmed the clinical diagnosis of FEH. In this case, the laser allowed excellent control of bleeding, without postoperative sutures, and optimal wound healing.

  5. Enhanced expression of potassium-chloride cotransporter KCC2 in human temporal lobe epilepsy.

    Science.gov (United States)

    Karlócai, Mária R; Wittner, Lucia; Tóth, Kinga; Maglóczky, Zsófia; Katarova, Zoja; Rásonyi, György; Erőss, Loránd; Czirják, Sándor; Halász, Péter; Szabó, Gábor; Payne, John A; Kaila, Kai; Freund, Tamás F

    2016-09-01

    Synaptic reorganization in the epileptic hippocampus involves altered excitatory and inhibitory transmission besides the rearrangement of dendritic spines, resulting in altered excitability, ion homeostasis, and cell swelling. The potassium-chloride cotransporter-2 (KCC2) is the main chloride extruder in neurons and hence will play a prominent role in determining the polarity of GABAA receptor-mediated chloride currents. In addition, KCC2 also interacts with the actin cytoskeleton which is critical for dendritic spine morphogenesis, and for the maintenance of glutamatergic synapses and cell volume. Using immunocytochemistry, we examined the cellular and subcellular levels of KCC2 in surgically removed hippocampi of temporal lobe epilepsy (TLE) patients and compared them to control human tissue. We also studied the distribution of KCC2 in a pilocarpine mouse model of epilepsy. An overall increase in KCC2-expression was found in epilepsy and confirmed by Western blots. The cellular and subcellular distributions in control mouse and human samples were largely similar; moreover, changes affecting KCC2-expression were also alike in chronic epileptic human and mouse hippocampi. At the subcellular level, we determined the neuronal elements exhibiting enhanced KCC2 expression. In epileptic tissue, staining became more intense in the immunopositive elements detected in control tissue, and profiles with subthreshold expression of KCC2 in control samples became labelled. Positive interneuron somata and dendrites were more numerous in epileptic hippocampi, despite severe interneuron loss. Whether the elevation of KCC2-expression is ultimately a pro- or anticonvulsive change, or both-behaving differently during ictal and interictal states in a context-dependent manner-remains to be established.

  6. Intraoperative hyperventilation vs remifentanil during electrocorticography for epilepsy surgery - a case report

    DEFF Research Database (Denmark)

    Kjaer, Troels W; Madsen, F F; Moltke, F B;

    2010-01-01

    ictal onset zones appeared in response to hyperventilation and remifentanil. Both zones were resected and the patient has remained essentially seizure free for 1 year. Furthermore, this is the first description of hyperventilation used as an intraoperative seizure precipitant in human focal epilepsy....

  7. Epilepsy in Dostoevsky's novels.

    Science.gov (United States)

    Voskuil, Piet H A

    2013-01-01

    Fyodor Mikhailovich Dostoevsky (1821-1881) suffered from epilepsy. Some type of psychopathology can be found in about 25% of the characters of his novels. Some of them have seizures. In at least five of them Dostoevsky clearly intends them to have epilepsy. Others are more likely to be created as people with hysteria or sometimes, for instance, possession. In this essay an inventory is given by more or less comprehensive quotes of different types of seizures in five novels. The seizures are named in the novels with a varying vocabulary based on the concepts of nosology in the 19th century, the knowledge of Dostoevsky of these concepts, his own experiences, and problems in translation and transliteration. In the discussion, analysis of the role these factors played in the understanding of what Dostoevsky really expressed is given attention. Special attention is given to the so-called ecstatic aura. This element of focal epileptic seizures is so rare that in the past the description of it raised doubts on its existence as such and therefore the embellishment by Dostoevsky, describing his own experience and/or that of his epileptic characters Kirillov and Myshkin. The consequence of this analytic approach, however, should not be losing one's amazement of the genius polyphonic creativity of Dostoevsky to integrate so many profound aspects of the human and especially the Russian soul in the characters of his novels. Copyright © 2013 S. Karger AG, Basel.

  8. Dystrophin Distribution and Expression in Human and Experimental Temporal Lobe Epilepsy

    Science.gov (United States)

    Hendriksen, Ruben G. F.; Schipper, Sandra; Hoogland, Govert; Schijns, Olaf E. M. G.; Dings, Jim T. A.; Aalbers, Marlien W.; Vles, Johan S. H.

    2016-01-01

    Objective: Dystrophin is part of a protein complex that connects the cytoskeleton to the extracellular matrix. In addition to its role in muscle tissue, it functions as an anchoring protein within the central nervous system such as in hippocampus and cerebellum. Its presence in the latter regions is illustrated by the cognitive problems seen in Duchenne Muscular Dystrophy (DMD). Since epilepsy is also supposed to constitute a comorbidity of DMD, it is hypothesized that dystrophin plays a role in neuronal excitability. Here, we aimed to study brain dystrophin distribution and expression in both, human and experimental temporal lobe epilepsy (TLE). Method: Regional and cellular dystrophin distribution was evaluated in both human and rat hippocampi and in rat cerebellar tissue by immunofluorescent colocalization with neuronal (NeuN and calbindin) and glial (GFAP) markers. In addition, hippocampal dystrophin levels were estimated by Western blot analysis in biopsies from TLE patients, post-mortem controls, amygdala kindled (AK)-, and control rats. Results: Dystrophin was expressed in all hippocampal pyramidal subfields and in the molecular-, Purkinje-, and granular cell layer of the cerebellum. In these regions it colocalized with GFAP, suggesting expression in astrocytes such as Bergmann glia (BG) and velate protoplasmic astrocytes. In rat hippocampus and cerebellum there were neither differences in dystrophin positive cell types, nor in the regional dystrophin distribution between AK and control animals. Quantitatively, hippocampal full-length dystrophin (Dp427) levels were about 60% higher in human TLE patients than in post-mortem controls (p < 0.05), whereas the level of the shorter Dp71 isoform did not differ. In contrast, AK animals showed similar dystrophin levels as controls. Conclusion: Dystrophin is ubiquitously expressed by astrocytes in the human and rat hippocampus and in the rat cerebellum. Hippocampal full-length dystrophin (Dp427) levels are upregulated

  9. Neurological Disease Rises from Ocean to Bring Model for Human Epilepsy to Life

    Directory of Open Access Journals (Sweden)

    John S. Ramsdell

    2010-06-01

    Full Text Available Domoic acid of macroalgal origin was used for traditional and medicinal purposes in Japan and largely forgotten until its rediscovery in diatoms that poisoned 107 people after consumption of contaminated mussels. The more severely poisoned victims had seizures and/or amnesia and four died; however, one survivor unexpectedly developed temporal lobe epilepsy (TLE a year after the event. Nearly a decade later, several thousand sea lions have stranded on California beaches with neurological symptoms. Analysis of the animals stranded over an eight year period indicated five clusters of acute neurological poisoning; however, nearly a quarter have stranded individually outside these events with clinical signs of a chronic neurological syndrome similar to TLE. These poisonings are not limited to sea lions, which serve as readily observed sentinels for other marine animals that strand during domoic acid poisoning events, including several species of dolphin and whales. Acute domoic acid poisoning is five-times more prominent in adult female sea lions as a result of the proximity of their year-round breeding grounds to major domoic acid bloom events. The chronic neurological syndrome, on the other hand, is more prevalent in young animals, with many potentially poisoned in utero. The sea lion rookeries of the Channel Islands are at the crossroads of domoic acid producing harmful algal blooms and a huge industrial discharge site for dichlorodiphenyltrichloroethane (DDTs. Studies in experimental animals suggest that chronic poisoning observed in immature sea lions may result from a spatial and temporal coincidence of DDTs and domoic acid during early life stages. Emergence of an epilepsy syndrome from the ocean brings a human epilepsy model to life and provides unexpected insights into interaction with legacy contaminants and expression of disease at different life stages.

  10. 聚焦超声治疗脑功能区局灶性癫痫的实验研究%Experimental study of focused ultrasound on focal epilepsy in brain functional area

    Institute of Scientific and Technical Information of China (English)

    左保廷; 范熙明; 张卫星; 翟宝进

    2011-01-01

    Objective To investigate the safety, efficacy and therapeutic mechanism of focused ultrasound surgery (FUS) on focal epilepsy of brain functional area in cat. Methods The focal epileptic models in the cats' motor cortex by penicillin were established. The different techniques were apphed in the animals epilepsy model. FUS, cortex thermocoagulation and multiple subpial transaction (MST) were compared in seizure control and functional preservation by observing behavior and electroencephalogram ( EEG), and the therapentic mechanism was compared by analysis of histopathology in the damaged cortex. Results In seizure control and EEG changes, three kinds of techniques were similar without prominent difference in statistics (P > 0.05). The same pathologic changes were showed in FUS group and cortex thermocoagulation group, ischemic change and coagulative necrosis of superficial layer nerval cells. The major pathologic change in MST group was an irregular crevice which was vertical with the surface of the cortex. The edema and mild gliosis were found around the crevice. Conclusions The focused ultrasound can effectively destroy and cut off the association of cortical horizontal fibre, meanwhile, the cortical function still to be reserved.Therefore, FUS is safe and effective as well as MST and cortex thermocoagulation on focal epilepsy in brain functional area.%目的 探讨聚焦超声波对猫功能区局灶性癫痫治疗的安全性、有效性及治疗机制。方法 建立青霉素诱发的猫运动区局灶性癫痫模型。给予不同的治疗方式,通过行为学观察及脑电图监测,比较聚焦超声、皮层热凝及多软膜下横纤维切断术在控制癫痫发作方面的效果及运动区功能保护方面的差异;通过对治疗区脑组织进行组织病理学观察,比较3种处理因素在治疗机制上的差别。结果 在控制癫痫发作及脑电图改变方面,聚焦超声治疗与皮层热凝及多软膜下横纤维切断术

  11. Epilepsy as a neurodevelopmental disorder

    Directory of Open Access Journals (Sweden)

    Yuri eBozzi

    2012-03-01

    Full Text Available Epilepsy is characterized by spontaneous recurrent seizures and comprises a diverse group of syndromes with different aetiologies. Epileptogenesis refers to the process whereby the brain becomes epileptic and can be related to several factors, such as acquired structural brain lesions, inborn brain malformations, alterations in neuronal signalling and defects in maturation and plasticity of neuronal networks. In this review, we will focus on alterations of brain development that lead to an hyperexcitability phenotype in adulthood, providing examples from both animal and human studies. Malformations of cortical development (including focal cortical dysplasia, lissencephaly, heterotopia, and polymicrogyria are frequently epileptogenic and result from defects in cell proliferation in the germinal zone and/or impaired neuronal migration and differentiation. Delayed or reduced arrival of inhibitory interneurons into the cortical plate is another possible cause of epileptogenesis. GABAergic neurons are generated during early development in the ganglionic eminences, and failure to pursue migration towards the cortex alters the excitatory/inhibitory balance resulting in aberrant network hyperexcitability. More subtle defects in the developmental assembly of excitatory and inhibitory synapses are also involved in epilepsy. For example, mutations in the presynaptic proteins synapsins and SNAP-25 cause derangements of synaptic transmission and plasticity which underlie appearance of an epileptic phenotype. Finally, there is evidence that defects in synapse elimination and remodelling during early critical periods can trigger hyperexcitability later in life. Further clarification of the developmental pathways to epilepsy has important implications for disease prevention and therapy.

  12. Human microglia transplanted in rat focal ischemia brain induce neuroprotection and behavioral improvement.

    Directory of Open Access Journals (Sweden)

    Dashdemberel Narantuya

    Full Text Available BACKGROUND AND PURPOSE: Microglia are resident immunocompetent and phagocytic cells of central nervous system (CNS, which produce various cytokines and growth factors in response to injury and thereby regulate disease pathology. The purpose of this study is to investigate the effects of microglial transplantation on focal cerebral ischemia model in rat. METHODS: Transient middle cerebral artery occlusion (MCAO in rats was induced by the intraluminal filament technique. HMO6 cells, human microglial cell line, were transplanted intravenously at 48 hours after MCAO. Functional tests were performed and the infarct volume was measured at 7 and 14 days after MCAO. Migration and cell survival of transplanted microglial cells and host glial reaction in the brain were studied by immunohistochemistry. Gene expression of neurotrophic factors, cytokines and chemokines in transplanted cells and host rat glial cells was determined by laser capture microdissection (LCM and quantitative real time-PCR. RESULTS: HMO6 human microglial cells transplantation group demonstrated significant functional recovery compared with control group. At 7 and 14 days after MCAO, infarct volume was significantly reduced in the HMO group. In the HMO6 group, number of apoptotic cells was time-dependently reduced in the infarct core and penumbra. In addition, number of host rat microglia/macrophages and reactive astrocytes was significantly decreased at 7 and 14 days after MCAO in the penumbra. Gene expression of various neurotrophic factors (GDNF, BDNF, VEGF and BMP7 and anti-inflammatory cytokines (IL4 and IL5 was up-regulated in transplanted HMO6 cells of brain tissue compared with those in culture. The expression of GDNF and VEGF in astrocytes in penumbra was significantly up-regulated in the HMO6 group. CONCLUSIONS: Our results indicate that transplantation of HMO6 human microglial cells reduces ischemic deficits and apoptotic events in stroke animals. The results were mediated

  13. Posttraumatic Epilepsy Following Fluid Percussion Injury in the Rat

    OpenAIRE

    2003-01-01

    The lack of an adequate model of posttraumatic epilepsy (PTE) in which, similarly to the human condition, chronic spontaneous focal seizures follow a single episode of traumatic brain injury (TBI), has hampered the identification of clinically-relevant epileptogenic mechanisms and the development of effective therapies. We studied the electrophysiological, behavioral and structural consequences of a clinically relevant model of closed head injury, the lateral fluid percussion injury (FPI) in ...

  14. Integrin-Associated Focal Adhesion Kinase Protects Human Embryonic Stem Cells from Apoptosis, Detachment, and Differentiation

    Directory of Open Access Journals (Sweden)

    Loriana Vitillo

    2016-08-01

    Full Text Available Human embryonic stem cells (hESCs can be maintained in a fully defined niche on extracellular matrix substrates, to which they attach through integrin receptors. However, the underlying integrin signaling mechanisms, and their contribution to hESC behavior, are largely unknown. Here, we show that focal adhesion kinase (FAK transduces integrin activation and supports hESC survival, substrate adhesion, and maintenance of the undifferentiated state. After inhibiting FAK kinase activity we show that hESCs undergo cell detachment-dependent apoptosis or differentiation. We also report deactivation of FAK downstream targets, AKT and MDM2, and upregulation of p53, all key players in hESC regulatory networks. Loss of integrin activity or FAK also induces cell aggregation, revealing a role in the cell-cell interactions of hESCs. This study provides insight into the integrin signaling cascade activated in hESCs and reveals in FAK a key player in the maintenance of hESC survival and undifferentiated state.

  15. The diagnostic utility of 3D-ESI rotating and moving dipole methodology in the pre-surgical evaluation of MRI-negative childhood epilepsy due to focal cortical dysplasia.

    Science.gov (United States)

    Russo, Angelo; Lallas, Matt; Jayakar, Prasanna; Miller, Ian; Hyslop, Ann; Dunoyer, Catalina; Resnick, Trevor; Duchowny, Michael

    2016-09-01

    This study investigates whether a combined rotating dipole (RD) and moving dipole (MD) solution enhances three-dimensional electroencephalography (EEG) source imaging (3D-ESI) localization in magnetic resonance imaging (MRI)-negative pediatric patients with focal cortical dysplasia (FCD). We retrospectively selected 14 MRI-negative patients with FCD from a cohort of 60 pediatric patients previously used to evaluate the diagnostic utility of 3D-ESI in epilepsy surgery. Patients were younger than 18 years at time of surgery and had at least 1 year of outcome data. RD and MD models were constructed for each interictal spike or sharp wave, and it was determined whether each inverse algorithm localized within the surgical resection cavity (SRC). We also compared the 3D-ESI findings and surgical outcome with positron emission tomography (PET) and ictal single photon emission computed tomography (iSPECT). RD analyses revealed a high concordance with the SRC (78.6%), particularly for temporal lobe resection (100.0%), and showed superior localization compared to PET and iSPECT, with the highest correlation in FCD type I and temporal lobe resection. Furthermore, the RD method was superior to iSPECT in FCD type II cases and to PET in extratemporal resections. RD and MD results were comparable, but in 18.2% of patients with FCD type I with localizing RDs, the MD solution was only partially within the SRC; in all of these patients 3D-ESI also correlated with superior surgical outcome compared to PET and iSPECT, especially when RD and MD solutions were analyzed together. 3D-ESI in MRI-negative cases showed superior localization compared to iSPECT or PET, especially in FCD type I and temporal lobe epilepsy, and correlated with superior surgical outcome compared to iSPECT and PET at 1 year and 2 years postoperatively, especially when RD and MD solutions were analyzed together. These findings suggest that 3D-ESI based on a combined RD-MD solution improves surgical accuracy in

  16. [Treatment of pediatric epilepsy].

    Science.gov (United States)

    Ito, Susumu; Oguni, Hirokazu

    2014-05-01

    Recently, the treatment strategy for pediatric epilepsy has been dramatically changed in Japan, because of the approval of new-generation antiepileptic drugs. Since 2006, a total of 6 new antiepileptic drugs, including gabapentin (GBP; adults/pediatric patients: 2006/2011 [year of approval]), topiramate (TPM; 2007/2013), lamotrigine (LTG; 2008/2008), levetiracetam (LEV; 2010/2013), stiripentol (STP; 2012/2012), and rufinamide (RUF; 2013/2013), have been introduced. Thus far, valproate (VPA) and carbamazepine (CBZ) have been first indicated for "generalized" epilepsy and "focal" epilepsy syndromes/types, respectively, in Japan. However, the approval of these new drugs could allow us to choose more effective and less toxic ones at an early stage of treatment. In this chapter, we describe the latest domestic and foreign guidelines for the treatment of pediatric epilepsy.

  17. Temporal lobe epilepsy semiology.

    Science.gov (United States)

    Blair, Robert D G

    2012-01-01

    Epilepsy represents a multifaceted group of disorders divided into two broad categories, partial and generalized, based on the seizure onset zone. The identification of the neuroanatomic site of seizure onset depends on delineation of seizure semiology by a careful history together with video-EEG, and a variety of neuroimaging technologies such as MRI, fMRI, FDG-PET, MEG, or invasive intracranial EEG recording. Temporal lobe epilepsy (TLE) is the commonest form of focal epilepsy and represents almost 2/3 of cases of intractable epilepsy managed surgically. A history of febrile seizures (especially complex febrile seizures) is common in TLE and is frequently associated with mesial temporal sclerosis (the commonest form of TLE). Seizure auras occur in many TLE patients and often exhibit features that are relatively specific for TLE but few are of lateralizing value. Automatisms, however, often have lateralizing significance. Careful study of seizure semiology remains invaluable in addressing the search for the seizure onset zone.

  18. International Veterinary Epilepsy Task Force recommendations for a veterinary epilepsy-specific MRI protocol.

    Science.gov (United States)

    Rusbridge, Clare; Long, Sam; Jovanovik, Jelena; Milne, Marjorie; Berendt, Mette; Bhatti, Sofie F M; De Risio, Luisa; Farqhuar, Robyn G; Fischer, Andrea; Matiasek, Kaspar; Muñana, Karen; Patterson, Edward E; Pakozdy, Akos; Penderis, Jacques; Platt, Simon; Podell, Michael; Potschka, Heidrun; Stein, Veronika M; Tipold, Andrea; Volk, Holger A

    2015-08-28

    Epilepsy is one of the most common chronic neurological diseases in veterinary practice. Magnetic resonance imaging (MRI) is regarded as an important diagnostic test to reach the diagnosis of idiopathic epilepsy. However, given that the diagnosis requires the exclusion of other differentials for seizures, the parameters for MRI examination should allow the detection of subtle lesions which may not be obvious with existing techniques. In addition, there are several differentials for idiopathic epilepsy in humans, for example some focal cortical dysplasias, which may only apparent with special sequences, imaging planes and/or particular techniques used in performing the MRI scan. As a result, there is a need to standardize MRI examination in veterinary patients with techniques that reliably diagnose subtle lesions, identify post-seizure changes, and which will allow for future identification of underlying causes of seizures not yet apparent in the veterinary literature.There is a need for a standardized veterinary epilepsy-specific MRI protocol which will facilitate more detailed examination of areas susceptible to generating and perpetuating seizures, is cost efficient, simple to perform and can be adapted for both low and high field scanners. Standardisation of imaging will improve clinical communication and uniformity of case definition between research studies. A 6-7 sequence epilepsy-specific MRI protocol for veterinary patients is proposed and further advanced MR and functional imaging is reviewed.

  19. Antiepileptic and neuroprotective effects of human umbilical cord blood mononuclear cells in a pilocarpine-induced epilepsy model.

    Science.gov (United States)

    Costa-Ferro, Zaquer Suzana Munhoz; de Borba Cunha, Fernanda; de Freitas Souza, Bruno Solano; Leal, Marcos Maurício Tosta; da Silva, Adelson Alves; de Bellis Kühn, Telma Ingrid Borges; Forte, Andresa; Sekiya, Eliseo Joji; Soares, Milena Botelho Pereira; Dos Santos, Ricardo Ribeiro

    2014-03-01

    Status epilepticus (SE) is a condition of persistent seizure that leads to brain damage and, frequently, to the establishment of chronic epilepsy. Cord blood is an important source of adult stem cells for the treatment of neurological disorders. The present study aimed to evaluate the effects of human umbilical cord blood mononuclear cells (HUCBC) transplanted into rats after induction of SE by the administration of lithium and pilocarpine chloride. Transplantation of HUCBC into epileptic rats protected against neuronal loss in the hippocampal subfields CA1, CA3 and in the hilus of the dentate gyrus, up to 300 days after SE induction. Moreover, transplanted rats had reduced frequency and duration of spontaneous recurrent seizures (SRS) 15, 120 and 300 days after the SE. Our study shows that HUCBC provide prominent antiepileptic and neuroprotective effects in the experimental model of epilepsy and reinforces that early interventions can protect the brain against the establishment of epilepsy.

  20. Classification of seizures and epilepsy.

    Science.gov (United States)

    Riviello, James J

    2003-07-01

    The management of seizures and epilepsy begins with forming a differential diagnosis, making the diagnosis, and then classifying seizure type and epileptic syndrome. Classification guides treatment, including ancillary testing, management, prognosis, and if needed, selection of the appropriate antiepileptic drug (AED). Many AEDs are available, and certain seizure types or epilepsy syndromes respond to specific AEDs. The identification of the genetics, molecular basis, and pathophysiologic mechanisms of epilepsy has resulted from classification of specific epileptic syndromes. The classification system used by the International League Against Epilepsy is periodically revised. The proposed revision changes the classification emphasis from the anatomic origin of seizures (focal vs generalized) to seizure semiology (ie, the signs or clinical manifestations). Modified systems have been developed for specific circumstances (eg, neonatal seizures, infantile seizures, status epilepticus, and epilepsy surgery). This article reviews seizure and epilepsy classification, emphasizing new data.

  1. Effects of hippocampal low-frequency stimulation in idiopathic non-human primate epilepsy assessed via a remote-sensing-enabled neurostimulator.

    Science.gov (United States)

    Wozny, Thomas A; Lipski, Witold J; Alhourani, Ahmad; Kondylis, Efstathios D; Antony, Arun; Richardson, R Mark

    2017-08-01

    Individuals with pharmacoresistant epilepsy remain a large and under-treated patient population. Continued technologic advancements in implantable neurostimulators have spurred considerable research efforts directed towards the development of novel antiepileptic stimulation therapies. However, the lack of adequate preclinical experimental platforms has precluded a detailed understanding of the differential effects of stimulation parameters on neuronal activity within seizure networks. In order to chronically monitor seizures and the effects of stimulation in a freely-behaving non-human primate with idiopathic epilepsy, we employed a novel simultaneous video-intracranial EEG recording platform using a state-of-the-art sensing-enabled, rechargeable clinical neurostimulator with real-time seizure detection and wireless data streaming capabilities. Using this platform, we were able to characterize the electrographic and semiologic features of the focal-onset, secondarily generalizing tonic-clonic seizures stably expressed in this animal. A series of acute experiments exploring low-frequency (2Hz) hippocampal stimulation identified a pulse width (150μs) and current amplitude (4mA) combination which maximally suppressed local hippocampal activity. These optimized stimulation parameters were then delivered to the seizure onset-side hippocampus in a series of chronic experiments. This long-term testing revealed that the suppressive effects of low-frequency hippocampal stimulation 1) diminish when delivered continuously but are maintained when stimulation is cycled on and off, 2) are dependent on circadian rhythms, and 3) do not necessarily confer seizure protective effects. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  2. Managing Epilepsy

    Science.gov (United States)

    ... What's this? Submit What's this? Submit Button Managing Epilepsy Language: English Spanish Recommend on Facebook Tweet Share ... support strategies to use to empower PLWMCC. Managing Epilepsy Well Network The Managing Epilepsy Well (MEW) Network ...

  3. The feasible study of focused Ultrasound on focal epilepsy in brain functional area%聚焦超声治疗猫功能区局灶性癫痫的可行性研究

    Institute of Scientific and Technical Information of China (English)

    左保廷; 范熙明; 张卫星; 翟宝进

    2011-01-01

    Objective To investigate the feasibility and efficacy of focused ultrasound surgery (FUS) on focal epilepsy of brain functional area in cat. Methods To establish focal epileptic models in the cats' motor cortex by penicillin. According to different transducer power and therapy time, the groups were divided as 2W/3s, 2W/5s, 3W/3s and 3W/5s. They are compared in seizure control and functional preservation by observation behavior and electroencephalogram (EEG), and the therapentic mechanism is approached by analysis of histopathology in the damaged cortex. Results In seizure control, the results indicated that it was obviously different in statistics which 2W/5s group and 3W/3s group compared with 2W/3s group and 3W/5s group (P <0. 05). The pathologic changes are showed that ischemic change and coagulative necrosis of superficial layer nerval cells. The depth of lesion correlated well with the changes of transducer power and duration of thermocoagulation. Conclusion The focused ultrasound with proper power and duration can effectively destroy and cut off the association of cortical horizontal fibre, meanwhile, the cortical function still to be reserved. Therefore, FUS is safe and available on focal epilepsy of brain functional area.%目的 探讨聚焦超声波治疗猫功能区局灶性癫痫的可行性及有效性.方法 建立青霉素诱发的猫运动区局灶性癫痫模型.根据换能器功率及治疗时间不同,分为2W/3s组,2W/5s组,3W/3s组及3W/5s组,通过行为学观察及脑电图(EEG)监测,比较各组在控制癫痫发作方面的效果;通过对治疗区脑组织进行组织病理学观察,探讨聚焦超声波治疗功能区局灶性癫痫的机制.结果 在控制癫痫发作方面,2W/5s组及3W/3s组治疗效果与2W/3s组及3W/5s组相比,差异具有统计学意义(P<0.05).其病理学改变均表现为皮质浅层神经细胞的缺血性改变甚至凝固性坏死,皮层损伤深度随着换能器功率和持续时

  4. Scintigraphic assessment of focal platelet accumulations following infrainguinal bypass surgery in humans

    DEFF Research Database (Denmark)

    Nielsen, Tina G; Hesse, B; Eiberg, J;

    1997-01-01

    of flow in the graft. Platelet deposition was assessed by gamma-camera images of thigh and crus obtained 4 and/or 24 h after surgery. Areas of focally increased activity were recorded and graded as moderate or intense. In the 24 vein bypasses, a median of two (range 0-5) areas of focally increased....... In 28 patients undergoing in situ vein (n = 24), composite vein-polytetrafluoroethylene (PTFE) (n = 1) or PTFE (n = 3) bypass surgery, assumed vascular injuries were recorded intraoperatively. Autologous indium-111-labelled platelets were injected into the inflow artery immediately after restoration...... radioactivity were seen at the proximal anastomosis (n = 21), in the body of the graft (n = 20) or at the distal anastomosis (n = 9). The activity was moderate in 27 cases and intense in 23 cases. Scintigraphic evidence of focal platelet aggregation in vein grafts was not correlated with preoperative...

  5. Human papillomavirus-32-associated focal epithelial hyperplasia accompanying HPV-16-positive papilloma-like lesions in oral mucosa.

    Science.gov (United States)

    Liu, Na; Wang, Jiayi; Lei, Lei; Li, Yanzhong; Zhou, Min; Dan, Hongxia; Zeng, Xin; Chen, Qianming

    2013-05-01

    Human papillomavirus infection can cause a variety of benign or malignant oral lesions, and the various genotypes can cause distinct types of lesions. To our best knowledge, there has been no report of 2 different human papillomavirus-related oral lesions in different oral sites in the same patient before. This paper reported a patient with 2 different oral lesions which were clinically and histologically in accord with focal epithelial hyperplasia and oral papilloma, respectively. Using DNA extracted from these 2 different lesions, tissue blocks were tested for presence of human papillomavirus followed by specific polymerase chain reaction testing for 6, 11, 13, 16, 18, and 32 subtypes in order to confirm the clinical diagnosis. Finally, human papillomavirus-32-positive focal epithelial hyperplasia accompanying human papillomavirus-16-positive oral papilloma-like lesions were detected in different sites of the oral mucosa. Nucleotide sequence sequencing further confirmed the results. So in our clinical work, if the simultaneous occurrences of different human papillomavirus associated lesions are suspected, the multiple biopsies from different lesions and detection of human papillomavirus genotype are needed to confirm the diagnosis.

  6. Sequential motor task (Luria's Fist-Edge-Palm Test in children with benign focal epilepsy of childhood with centrotemporal spikes Tarefa motora sequencial (Teste de Lúria punho-lado-palma em crianças com epilepsia focal benigna da infância com descarga centrotemporal

    Directory of Open Access Journals (Sweden)

    Carmen Silvia Molleis Galego Miziara

    2013-06-01

    Full Text Available This study evaluated the sequential motor manual actions in children with benign focal epilepsy of childhood with centrotemporal spikes (BECTS and compares the results with matched control group, through the application of Luria's fist-edge-palm test. The children with BECTS underwent interictal single photon emission computed tomography (SPECT and School Performance Test (SPT. Significant difference occurred between the study and control groups for manual motor action through three equal and three different movements. Children with lower school performance had higher error rate in the imitation of hand gestures. Another factor significantly associated with the failure was the abnormality in SPECT. Children with BECTS showed abnormalities in the test that evaluated manual motor programming/planning. This study may suggest that the functional changes related to epileptiform activity in rolandic region interfere with the executive function in children with BECTS.Esse estudo avaliou ações motoras manuais sequenciais em crianças com epilepsia focal benigna da infância com descarga centrotemporal (EBICT e comparou os resultados com o grupo controle pareado, através do teste de Lúria (punho-lado-palma. As crianças com EBICT realizaram single photon emission computed tomography (SPECT interictal e Teste de Desempenho Escolar (TDE. Foram encontradas diferenças significativas entre os dois grupos nas atividades motoras de três movimentos iguais e três movimentos diferentes. As crianças com piores resultados no TDE e com SPECT alterado apresentaram mais erros no teste de imitação manual. Crianças com epilepsia fracassaram nos testes de avaliação motora que envolvem programação/planejamento. Esse estudo sugere que mudanças funcionais relacionadas à atividade epileptiforme na região rolândica interfere com as funções executivas de crianças com EBICT.

  7. Human brain slices for epilepsy research: Pitfalls, solutions and future challenges.

    Science.gov (United States)

    Jones, Roland S G; da Silva, Anderson Brito; Whittaker, Roger G; Woodhall, Gavin L; Cunningham, Mark O

    2016-02-15

    Increasingly, neuroscientists are taking the opportunity to use live human tissue obtained from elective neurosurgical procedures for electrophysiological studies in vitro. Access to this valuable resource permits unique studies into the network dynamics that contribute to the generation of pathological electrical activity in the human epileptic brain. Whilst this approach has provided insights into the mechanistic features of electrophysiological patterns associated with human epilepsy, it is not without technical and methodological challenges. This review outlines the main difficulties associated with working with epileptic human brain slices from the point of collection, through the stages of preparation, storage and recording. Moreover, it outlines the limitations, in terms of the nature of epileptic activity that can be observed in such tissue, in particular, the rarity of spontaneous ictal discharges, we discuss manipulations that can be utilised to induce such activity. In addition to discussing conventional electrophysiological techniques that are routinely employed in epileptic human brain slices, we review how imaging and multielectrode array recordings could provide novel insights into the network dynamics of human epileptogenesis. Acute studies in human brain slices are ultimately limited by the lifetime of the tissue so overcoming this issue provides increased opportunity for information gain. We review the literature with respect to organotypic culture techniques that may hold the key to prolonging the viability of this material. A combination of long-term culture techniques, viral transduction approaches and electrophysiology in human brain slices promotes the possibility of large scale monitoring and manipulation of neuronal activity in epileptic microcircuits. Copyright © 2015 Elsevier B.V. All rights reserved.

  8. Focal cortical dysplasia - review.

    Science.gov (United States)

    Kabat, Joanna; Król, Przemysław

    2012-04-01

    Focal cortical dysplasia is a malformation of cortical development, which is the most common cause of medically refractory epilepsy in the pediatric population and the second/third most common etiology of medically intractable seizures in adults.Both genetic and acquired factors are involved in the pathogenesis of cortical dysplasia. Numerous classifications of the complex structural abnormalities of focal cortical dysplasia have been proposed - from Taylor et al. in 1971 to the last modification of Palmini classification made by Blumcke in 2011. In general, three types of cortical dysplasia are recognized.Type I focal cortical dysplasia with mild symptomatic expression and late onset, is more often seen in adults, with changes present in the temporal lobe.Clinical symptoms are more severe in type II of cortical dysplasia usually seen in children. In this type, more extensive changes occur outside the temporal lobe with predilection for the frontal lobes.New type III is one of the above dysplasias with associated another principal lesion as hippocampal sclerosis, tumor, vascular malformation or acquired pathology during early life.Brain MRI imaging shows abnormalities in the majority of type II dysplasias and in only some of type I cortical dysplasias.THE MOST COMMON FINDINGS ON MRI IMAGING INCLUDE: focal cortical thickening or thinning, areas of focal brain atrophy, blurring of the gray-white junction, increased signal on T2- and FLAIR-weighted images in the gray and subcortical white matter often tapering toward the ventricle. On the basis of the MRI findings, it is possible to differentiate between type I and type II cortical dysplasia. A complete resection of the epileptogenic zone is required for seizure-free life. MRI imaging is very helpful to identify those patients who are likely to benefit from surgical treatment in a group of patients with drug-resistant epilepsy.However, in type I cortical dysplasia, MR imaging is often normal, and also in both types

  9. Vertebrates respond differently to human disturbance: implications for the use of a focal species approach

    Science.gov (United States)

    Ficetola, Gentile Francesco; Sacchi, Roberto; Scali, Stefano; Gentilli, Augusto; De Bernardi, Fiorenza; Galeotti, Paolo

    2007-01-01

    Focal species are surrogates assuming that all species under consideration respond similarly to the threatening processes. Focusing management only on a small number of species would improve conditions for other species. However, the across-taxa congruency of the response to threatening processes, and the subsequent efficiency of focal species as surrogates, has seldom been tested. In this study, we evaluated the effects of recreational disturbance and wood structure on the communities of terrestrial vertebrates in the wood patches of a large urban park. We measured two effects of recreation: direct disturbance (people presence) and litter disturbance (effect of trampling). We used multiple techniques to assess the distribution of small mammals, birds, reptiles and amphibians in 44 wood patches. Disturbance and wood maturity influenced the distribution of some species and the species richness of amphibians and reptiles; however, the pattern was not consistent across species within classes or among classes. The performance of focal species as a multi species umbrella was poor. Our results suggest that species specific differences in the response to the same source of disturbance can be strong; these differences can hinder the usefulness of focal species as surrogates and as a management tool.

  10. Behavioral problems in children with epilepsy

    Directory of Open Access Journals (Sweden)

    Dora Novriska

    2014-11-01

    Full Text Available Background Epilepsy is a neurological disorder that most often affects children. Most cases of epilepsy are found in developing countries. Children with epilepsy are at risk of behavioral disorders that can affect their quality of life. Studies on behavioral problems in children with epilepsy have been limited in Indonesia. Objective To compare behavioral disorders in children with epilepsy to those in normal children, and to assess for possible factors associated with the occurrence of behavioral disorders. Methods We conducted a cross-sectional study involving 47 children with epilepsy and 46 children without epilepsy, aged 3-16 years. Behavioral problems were screened with the Strength and Difficulty Questionnaire (SDQ, Indonesian version. Information about EEG description, medication, onset, and duration of epilepsy were obtained from medical records. Results Behavioral problems were found in 19.1% of children with epilepsy and only in 2.2 % of children without epilepsy (PR 8.8; 95%CI 1.16 to 66.77; P= 0.015. Significant differences were also found in the percentage of conduct problems and emotional disorders. Multivariate analysis with logistic regression revealed that the factors associated with behavioral disorders in children with epilepsy were uncontrolled epilepsy (PR 13.9; 95%CI 1.45 to 132.4; P=0.023 and focal EEG appearance (PR 19; 95%CI 1.71 to 214.43; P=0.017. We also found that uncontrolled epilepsy was a factor related to emotional (PR 6.7; 95%CI 1.66 to 26.76; P=0.007 and conduct problems (PR 6.1; 95%CI 1.35 to 27.29; P=0.019. Conclusion Uncontrolled epilepsy and focal EEG results are factors associated with increased risk of behavioral problems in children with epilepsy. Children with epilepsy should undergo behavioral disorder screening, followed by diagnosis confirmation and treatment. [Paediatr Indones. 2014;54:324-9.].

  11. High frequency oscillations in epilepsy surgery

    NARCIS (Netherlands)

    van 't Klooster, MA

    2016-01-01

    Epilepsy surgery is the sole treatment to cure patients with focal epilepsy. The chances on seizure freedom after surgery is determined by how well we can pinpoint the epileptic focus and delineate the margins of the disease tissue for resection. Intra-operative invasive EEG, measuring brain signals

  12. Febrile seizures - semiology in humans and animal models: evidence of focality and heterogeneity.

    Science.gov (United States)

    Neville, Brian G R; Gindner, Diane

    2010-01-01

    The relationship between febrile seizures and hippocampal sclerosis has been the subject of longstanding discussion. Animal models for prolonged seizures have shown a clear causal relationship with focal limbic features at low dose and hippocampal damage at high dose. Careful history taking of febrile seizure semiology has shown focal early features often with clear temporal lobe elements. This would suggest that many febrile seizures are secondarily generalised hippocampal seizures. There is evidence of varying levels of epileptogenicity in specific infective causes of febrile seizures. Seizure semiology also suggests that a proportion of such seizures may be non-epileptic reflex asystolic attacks. Seizure semiology in febrile seizures deserves closer scrutiny. Copyright 2009 Elsevier B.V. All rights reserved.

  13. Spatial relationship of organized rotational and focal sources in human atrial fibrillation to autonomic ganglionated plexi.

    Science.gov (United States)

    Baykaner, Tina; Zografos, Theodoros A; Zaman, Junaid A B; Pantos, Ioannis; Alhusseini, Mahmood; Navara, Rachita; Krummen, David E; Narayan, Sanjiv M; Katritsis, Demosthenes G

    2017-08-01

    One approach to improve ablation for atrial fibrillation (AF) is to focus on physiological targets including focal or rotational sources or ganglionic plexi (GP). However, the spatial relationship between these potential mechanisms has never been studied. We tested the hypothesis that rotors and focal sources for AF may co-localize with ganglionated plexi (GP). We prospectively identified locations of AF rotors and focal sources, and correlated these to GP sites in 97 consecutive patients (age 59.9±11.4, 73% persistent AF). AF was recorded with 64-pole catheters with activation/phase mapping, and related to anatomic GP sites on electroanatomic maps. AF sources arose in 96/97 (99%) patients for 2.6±1.4 sources per patient (left atrium: 1.7±0.9 right atrium: 1.1±0.8), each with an area of 2-3cm(2). On area analyses, the probability of an AF source randomly overlapping a GP area was 26%. Left atrial sources were seen in 94 (97%) patients, in whom ≥1 source co-localized with GP in 75 patients (80%; psources were more likely to colocalize with left vs right GPs (p65, diabetes; psources in the left atrium often colocalize with regions of autonomic innervation. Studies should define if the role of AF sources differs by their anatomical location. Copyright © 2017 Elsevier B.V. All rights reserved.

  14. Temporal lobe epilepsy following maintenance electroconvulsive therapy-Electrical kindling in the human brain?

    Science.gov (United States)

    Bryson, Alexander; Gardner, Helen; Wilson, Ian; Rolfe, Tim; Archer, John

    2016-11-01

    Maintenance electroconvulsive therapy (ECT) is sometimes prescribed for refractory psychiatric conditions. We describe five patients who received maintenance ECT and developed florid temporal epileptiform abnormalities on electroencephalography (EEG) despite no history of epilepsy and normal neuroimaging. All patients had received regular ECT for at least 8 months. Three patients had clinical events consistent with epileptic seizures, and video-EEG monitoring captured electrographic seizures in two patients. After cessation of ECT the EEGs normalized in all patients, and no further clinical seizures occurred. Maintenance ECT may predispose to epilepsy with a seizure focus in the temporal lobe. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

  15. Anti-apoptotic effects of recombinant human granulocyte colony-stimulating factor in focal cerebral ischemic rats

    Institute of Scientific and Technical Information of China (English)

    Xia Yuan; Shiming Zhang; Wanli Dong; Qi Fang

    2011-01-01

    The neuroprotective effects of granulocyte colony-stimulating factor in cerebral ischemia/reperfusion injury are currently contentious. The present study examined the effects of subcutaneous injection of recombinant human granulocyte colony-stimulating factor (50 μg/kg) over 5 days in a model of cerebral ischemia/reperfusion with intraluminal filament occlusion in rats. The results indicated that recombinant human granulocyte colony-stimulating factor reduced brain infarct volume following cerebral ischemia/reperfusion injury in rats, down-regulated the expression of caspase-3 mRNA (a key protease for apoptosis in the cerebral ischemia zone), lowered the rate of neuronal apoptosis in the cerebral ischemia zone, and notably ameliorated neurological function. These results indicate that recombinant human granulocyte colony-stimulating factor has anti-apoptotic effects on neurons following focal cerebral ischemia/reperfusion injury, and exerts neuroprotective effects.

  16. Parental Infertility, Fertility Treatment, and Childhood Epilepsy

    DEFF Research Database (Denmark)

    Kettner, Laura O.; Ramlau-Hansen, Cecilia H.; Kesmodel, Ulrik S.

    2016-01-01

    BACKGROUND: A few studies have indicated an increased risk of epilepsy in children conceived by fertility treatment possibly due to characteristics of the infertile couple rather than the treatment. We therefore aimed to investigate the association between parental infertility, fertility treatment....... RESULTS: A total of 60 440 pregnancies were included, and 0.8% of the children developed epilepsy.The primary analyses showed no association between parental infertility or fertility treatment, and the overall risk of childhood epilepsy (hazard rate ratios (HRs); 95% confidence intervals (CIs): 1.08 (0......, and epilepsy in the offspring, including the subtypes of epilepsy; idiopathic generalised epilepsy and focal epilepsy. METHODS: This cohort included all pregnancies resulting in liveborn singletons from the Aarhus Birth Cohort, Denmark (1995-2013). Information on time to pregnancy and fertility treatment...

  17. Scintigraphic assessment of focal platelet accumulations following infrainguinal bypass surgery in humans

    DEFF Research Database (Denmark)

    Nielsen, Tina G; Hesse, B; Eiberg, J

    1997-01-01

    . In 28 patients undergoing in situ vein (n = 24), composite vein-polytetrafluoroethylene (PTFE) (n = 1) or PTFE (n = 3) bypass surgery, assumed vascular injuries were recorded intraoperatively. Autologous indium-111-labelled platelets were injected into the inflow artery immediately after restoration...... antiplatelet therapy or vein graft diameter. Only 2 of the 20 intragraft platelet depositions occurred in areas where intra-operative vascular injury was suspected. In the composite graft and the PTFE grafts, diffuse activity was observed throughout the entire bypass. In conclusion, focal activity...

  18. Evaluating the efficacy of teaching methods regarding prevention of human epilepsy caused by Taenia solium neurocysticercosis in Western Kenya.

    Science.gov (United States)

    Wohlgemut, Jared; Dewey, Cate; Levy, Mike; Mutua, Florence

    2010-04-01

    Taenia solium neurocysticercosis is a major cause of adult-onset epilepsy in developing countries. A questionnaire was administered to 282 Kenyan farmers, followed by a workshop, a second questionnaire, one-on-one training, and a third questionnaire. People who attended workshops were more likely to know how T. solium causes epilepsy in humans in the third visit than the second (P = 0.001). The likelihood that farmers would tether their pigs 100% of the time, limiting exposure to tapeworm eggs, increased after the first (P < 0.001) and second visits (P < 0.001). Farmers were more likely to have heard of Cysticercus cellulosae in the second (P = 0.001) and third visits (P = 0.007), and to know how pigs acquire infection in the second (P = 0.03) and third visits (P = 0.003). Farmers with at least a grade 8 education were more likely to know how T. solium is transmitted to humans in the second (P = 0.001) and third visits (P = 0.009), and were more likely to understand the relationship between epilepsy and T. solium in the second (P = 0.03) and third visits (P = 0.03). Grade 8 education may enhance learning from written material. Workshops followed by individual on-farm training enhanced knowledge acquisition and behavior changes. Training local government extension workers contributed to the sustainability of this project.

  19. Evaluating the Efficacy of Teaching Methods Regarding Prevention of Human Epilepsy Caused by Taenia solium Neurocysticercosis in Western Kenya

    Science.gov (United States)

    Wohlgemut, Jared; Dewey, Cate; Levy, Mike; Mutua, Florence

    2010-01-01

    Taenia solium neurocysticercosis is a major cause of adult-onset epilepsy in developing countries. A questionnaire was administered to 282 Kenyan farmers, followed by a workshop, a second questionnaire, one-on-one training, and a third questionnaire. People who attended workshops were more likely to know how T. solium causes epilepsy in humans in the third visit than the second (P = 0.001). The likelihood that farmers would tether their pigs 100% of the time, limiting exposure to tapeworm eggs, increased after the first (P < 0.001) and second visits (P < 0.001). Farmers were more likely to have heard of Cysticercus cellulosae in the second (P = 0.001) and third visits (P = 0.007), and to know how pigs acquire infection in the second (P = 0.03) and third visits (P = 0.003). Farmers with at least a grade 8 education were more likely to know how T. solium is transmitted to humans in the second (P = 0.001) and third visits (P = 0.009), and were more likely to understand the relationship between epilepsy and T. solium in the second (P = 0.03) and third visits (P = 0.03). Grade 8 education may enhance learning from written material. Workshops followed by individual on-farm training enhanced knowledge acquisition and behavior changes. Training local government extension workers contributed to the sustainability of this project. PMID:20348512

  20. Protective influence of hyaluronic acid on focal adhesion kinase activity in human skin fibroblasts exposed to ethanol

    Directory of Open Access Journals (Sweden)

    Donejko M

    2017-03-01

    Full Text Available Magdalena Donejko,1 Edyta Rysiak,2 Elżbieta Galicka,1 Robert Terlikowski,3 Edyta Katarzyna Głażewska,1 Andrzej Przylipiak1 1Department of Esthetic Medicine, 2Department of Medicinal Chemistry, Faculty of Pharmacy, 3Department of Health Restoration, Medical University of Białystok, Białystok, Poland Aim: The aim of this study was to evaluate the effect of ethanol and hyaluronic acid (HA on cell survival and apoptosis in cultured human skin fibroblasts. Regarding the mechanism of ethanol action on human skin fibroblasts, we investigated cell viability and apoptosis, expression of focal adhesion kinase (FAK, and the influence of HA on those processes. Materials and methods: Studies were conducted in confluent human skin fibroblast cultures that were treated with 25 mM, 50 mM, and 100 mM ethanol or with ethanol and 500 µg/mL HA. Cell viability was examined using methyl thiazolyl tetrazolium (MTT assay and NC-300 Nucleo-Counter. Imaging of the cells using a fluorescence microscope Pathway 855 was performed to measure FAK expression. Results: Depending on the dosage, ethanol decreased cell viability and activated the process of apoptosis in human skin fibroblasts. HA prevented the negative influence of ethanol on cell viability and prevented apoptosis. The analysis of fluorescence imaging using BD Pathway 855 High-Content Bioimager showed the inhibition of FAK migration to the cell nucleus, depending on the increasing concentration of ethanol. Conclusion: This study proves that downregulation of signaling pathway of FAK is involved in ethanol-induced apoptosis in human skin fibroblasts. The work also indicates a protective influence of HA on FAK activity in human skin fibroblasts exposed to ethanol. Keywords: apoptosis, skin fibroblast, focal adhesion kinase, hyaluronic acid, ethanol

  1. A knock-in model of human epilepsy in Drosophila reveals a novel cellular mechanism associated with heat-induced seizure

    OpenAIRE

    Sun, Lei; Gilligan, Jeff; Staber, Cynthia; Schutte, Ryan J.; Nguyen, Vivian; O'Dowd, Diane K.; Reenan, Robert

    2012-01-01

    Over 40 missense mutations in the human SCN1A sodium channel gene are linked to an epilepsy syndrome termed genetic epilepsy with febrile seizures plus (GEFS+). Inheritance of GEFS+ is dominant but the underlying cellular mechanisms remain poorly understood. Here we report knock-in of a GEFS+ SCN1A mutation (K1270T) into the Drosophila sodium channel gene, para, causes a semi-dominant temperature-induced seizure phenotype. Electrophysiological studies of GABAergic interneurons in the brains o...

  2. Case Report of Focal Epithelial Hyperplasia (Heck's Disease) with Polymerase Chain Reaction Detection of Human Papillomavirus 13.

    Science.gov (United States)

    Brehm, Mary A; Gordon, Katie; Firan, Miahil; Rady, Peter; Agim, Nnenna

    2016-05-01

    Focal epithelial hyperplasia (FEH), or Heck's disease, is an uncommon benign proliferation of oral mucosa caused by the human papillomavirus (HPV), particularly subtypes 13 and 32. The disease typically presents in young Native American patients and is characterized by multiple asymptomatic papules and nodules on the oral mucosa, lips, tongue, and gingiva. The factors that determine susceptibility to FEH are unknown, but the ethnic and geographic distribution of FEH suggests that genetic predisposition, particularly having the human lymphocytic antigen DR4 type, may be involved in pathogenesis. We report a case of FEH with polymerase chain reaction detection of HPV13 in a healthy 11-year-old Hispanic girl and discuss the current understanding of disease pathogenesis, susceptibility, and treatment.

  3. Transcranial direct current stimulation reverses neurophysiological and behavioural effects of focal inhibition of human pharyngeal motor cortex on swallowing.

    Science.gov (United States)

    Vasant, Dipesh H; Mistry, Satish; Michou, Emilia; Jefferson, Samantha; Rothwell, John C; Hamdy, Shaheen

    2014-02-15

    The human cortical swallowing system exhibits bilateral but functionally asymmetric representation in health and disease as evidenced by both focal cortical inhibition (pre-conditioning with 1 Hz repetitive transcranial magnetic stimulation; rTMS) and unilateral stroke, where disruption of the stronger (dominant) pharyngeal projection alters swallowing neurophysiology and behaviour. Moreover, excitatory neurostimulation protocols capable of reversing the disruptive effects of focal cortical inhibition have demonstrated therapeutic promise in post-stroke dysphagia when applied contralaterally. In healthy participants (n = 15, 8 males, mean age (±SEM) 35 ± 9 years), optimal parameters of transcranial direct current stimulation (tDCS) (anodal, 1.5 mA, 10 min) were applied contralaterally after 1 Hz rTMS pre-conditioning to the strongest pharyngeal projection. Swallowing neurophysiology was assessed in both hemispheres by intraluminal recordings of pharyngeal motor-evoked responses (PMEPs) to single-pulse TMS as a measure of cortical excitability. Swallowing behaviour was examined using a pressure-based reaction time protocol. Measurements were made before and for up to 60 min post intervention. Subjects were randomised to active or sham tDCS after 1 Hz rTMS on separate days and data were compared using repeated measures ANOVA. Active tDCS increased PMEPs bilaterally (F1,14 = 7.4, P = 0.017) reversing the inhibitory effects of 1 Hz rTMS in the pre-conditioned hemisphere (F1,14 = 10.1, P = 0.007). Active tDCS also enhanced swallowing behaviour, increasing the number of correctly timed challenge swallows compared to sham (F1,14 = 6.3, P = 0.025). Thus, tDCS to the contralateral pharyngeal motor cortex reverses the neurophysiological and behavioural effects of focal cortical inhibition on swallowing in healthy individuals and has therapeutic potential for dysphagia rehabilitation.

  4. What and where in human audition: selective deficits following focal hemispheric lesions.

    Science.gov (United States)

    Clarke, Stephanie; Bellmann Thiran, Anne; Maeder, Philippe; Adriani, Michela; Vernet, Olivier; Regli, Luca; Cuisenaire, Olivier; Thiran, Jean-Philippe

    2002-11-01

    A sound that we hear in a natural setting allows us to identify the sound source and localize it in space. The two aspects can be disrupted independently as shown in a study of 15 patients with focal right-hemispheric lesions. Four patients were normal in sound recognition but severely impaired in sound localization, whereas three other patients had difficulties in recognizing sounds but localized them well. The lesions involved the inferior parietal and frontal cortices, and the superior temporal gyrus in patients with selective sound localization deficit; and the temporal pole and anterior part of the fusiform, inferior and middle temporal gyri in patients with selective recognition deficit. These results suggest separate cortical processing pathways for auditory recognition and localization.

  5. EPILEPSY AND RISK OF SUICIDE (A REVIEW

    Directory of Open Access Journals (Sweden)

    O. A. Pylaeva

    2013-01-01

    Full Text Available The authors propose a fundamental review, devoted to the factors, wich increase the risk of suicidal behavior (suicidal ideation and suicide attempts in patients with epilepsy. It is known, that suicidal risk is increased 5 times more in patients with epilepsy, and 25 times more in patients with temporal lobe epilepsy and complex focal seizures, than in general population. The main factors, increasing suicidal risk in epilepsy, are comorbid affective disorders (depression, and psychosis. The authors also describe the role of antiepileptic drugs.

  6. Simultaneous determination of five anti-epilepsy drugs in human plasma using liquid chromatography-mass spectrometry

    Institute of Scientific and Technical Information of China (English)

    STEFANIE; WeiBig

    2010-01-01

    A new liquid chromatography-mass spectrometry method for the determination of carbamazepine,clonazepam,alprazolam,estazolam and phenytoin in human plasma has been developed by using diazepam as an internal standard.Chromatographic separation was performed on a Zorbax SB-C18 column(30 mm × 2.1 mm,3.5 ?m) with a mobile phase consisting of methanol and aqueous 25 mM ammonium acetate using gradient elution.A diethyl ether extraction method was used for the extraction of five anti-epilepsy drugs.The final extract was injected for analysis by LC-MS/MS.The method was validated within the concentration range of 50-5000 ng mL-1 for five anti-epilepsy drugs.The precision of the assay(RSD%) was less than 10% at all concentration levels within the tested range.The method recoveries for all samples were more than 90%.The results indicate that the method is specific,sensitive and accurate,and suitable to study the pharmacokinetics,to adjust the dosage for individual administration,and to monitor the drug-concentration and drug abuse of the five anti-epilepsy drugs.

  7. Protective influence of hyaluronic acid on focal adhesion kinase activity in human skin fibroblasts exposed to ethanol

    Science.gov (United States)

    Donejko, Magdalena; Rysiak, Edyta; Galicka, Elżbieta; Terlikowski, Robert; Głażewska, Edyta Katarzyna; Przylipiak, Andrzej

    2017-01-01

    Aim The aim of this study was to evaluate the effect of ethanol and hyaluronic acid (HA) on cell survival and apoptosis in cultured human skin fibroblasts. Regarding the mechanism of ethanol action on human skin fibroblasts, we investigated cell viability and apoptosis, expression of focal adhesion kinase (FAK), and the influence of HA on those processes. Materials and methods Studies were conducted in confluent human skin fibroblast cultures that were treated with 25 mM, 50 mM, and 100 mM ethanol or with ethanol and 500 µg/mL HA. Cell viability was examined using methyl thiazolyl tetrazolium (MTT) assay and NC-300 Nucleo-Counter. Imaging of the cells using a fluorescence microscope Pathway 855 was performed to measure FAK expression. Results Depending on the dosage, ethanol decreased cell viability and activated the process of apoptosis in human skin fibroblasts. HA prevented the negative influence of ethanol on cell viability and prevented apoptosis. The analysis of fluorescence imaging using BD Pathway 855 High-Content Bioimager showed the inhibition of FAK migration to the cell nucleus, depending on the increasing concentration of ethanol. Conclusion This study proves that downregulation of signaling pathway of FAK is involved in ethanol-induced apoptosis in human skin fibroblasts. The work also indicates a protective influence of HA on FAK activity in human skin fibroblasts exposed to ethanol. PMID:28293103

  8. Epilepsy kills

    Directory of Open Access Journals (Sweden)

    Fulvio Alexandre Scorza

    2012-03-01

    Full Text Available People with epilepsy are more likely to die prematurely, and the most common epilepsy-related category of death is sudden unexpected death in epilepsy (SUDEP. Thus, the purpose of this article was to alert the scientific community about SUDEP.

  9. HAb18G/CD147 regulates vinculin-mediated focal adhesion and cytoskeleton organization in cultured human hepatocellular carcinoma cells.

    Directory of Open Access Journals (Sweden)

    Qiang Liang

    Full Text Available Focal adhesions (FAs, integrin-mediated macromolecular complexes located at the cell membrane extracellular interface, have been shown to regulate cell adhesion and migration. Our previous studies have indicated that HAb18G/CD147 (CD147 is involved in cytoskeleton reorganization and FA formation in human hepatocellular carcinoma (HCC cells. However, the precise mechanisms underlying these processes remain unclear. In the current study, we determined that CD147 was involved in vinculin-mediated FA focal adhesion formation in HCC cells. We also found that deletion of CD147 led to reduced vinculin-mediated FA areas (P<0.0001, length/width ratios (P<0.0001, and mean intensities (P<0.0001. CD147 promoted lamellipodia formation by localizing Arp2/3 to the leading edge of the cell. Deletion of CD147 significantly reduced the fluorescence (t1/2 recovery times (22.7±3.3 s of vinculin-mediated focal adhesions (P<0.0001. In cell-spreading assays, CD147 was found to be essential for dynamic focal adhesion enlargement and disassembly. Furthermore, the current data showed that CD147 reduced tyrosine phosphorylation in vinculin-mediated focal adhesions, and enhanced the accumulation of the acidic phospholipid phosphatidylinositol-4, 5-bisphosphate (PIP2. Together, these results revealed that CD147 is involved in vinculin-mediated focal adhesion formation, which subsequently promotes cytoskeleton reorganization to facilitate invasion and migration of human HCC cells.

  10. Electroencephalography in dogs with epilepsy

    DEFF Research Database (Denmark)

    Berendt, Martin Ole; Høgenhaven, H; Flagstad, Annette Borgbjerg

    1999-01-01

    To investigate the diagnostic value of electroencephalography (EEG) in dogs with epilepsy, applying human criteria for EEG abnormalities observed with this disorder.......To investigate the diagnostic value of electroencephalography (EEG) in dogs with epilepsy, applying human criteria for EEG abnormalities observed with this disorder....

  11. GEM THERAPY AND EPILEPSY

    OpenAIRE

    1990-01-01

    The authors present in this paper the status of treatment and cause of epilepsy. They propose further research to be undertaken to document the data and a study of human magnetic aura followed by blood spectral studies. They have suggested that based upon these studies it should be possible to determine the cause of epilepsy and its treatment by the physical application of suitable precious and semi-previous stones followed by administration of Ayurvedic formulation.

  12. Describing the genetic architecture of epilepsy through heritability analysis.

    Science.gov (United States)

    Speed, Doug; O'Brien, Terence J; Palotie, Aarno; Shkura, Kirill; Marson, Anthony G; Balding, David J; Johnson, Michael R

    2014-10-01

    Epilepsy is a disease with substantial missing heritability; despite its high genetic component, genetic association studies have had limited success detecting common variants which influence susceptibility. In this paper, we reassess the role of common variants on epilepsy using extensions of heritability analysis. Our data set consists of 1258 UK patients with epilepsy, of which 958 have focal epilepsy, and 5129 population control subjects, with genotypes recorded for over 4 million common single nucleotide polymorphisms. Firstly, we show that on the liability scale, common variants collectively explain at least 26% (standard deviation 5%) of phenotypic variation for all epilepsy and 27% (standard deviation 5%) for focal epilepsy. Secondly we provide a new method for estimating the number of causal variants for complex traits; when applied to epilepsy, our most optimistic estimate suggests that at least 400 variants influence disease susceptibility, with potentially many thousands. Thirdly, we use bivariate analysis to assess how similar the genetic architecture of focal epilepsy is to that of non-focal epilepsy; we demonstrate both significant differences (P = 0.004) and significant similarities (P = 0.01) between the two subtypes, indicating that although the clinical definition of focal epilepsy does identify a genetically distinct epilepsy subtype, there is also scope to improve the classification of epilepsy by incorporating genotypic information. Lastly, we investigate the potential value in using genetic data to diagnose epilepsy following a single epileptic seizure; we find that a prediction model explaining 10% of phenotypic variation could have clinical utility for deciding which single-seizure individuals are likely to benefit from immediate anti-epileptic drug therapy.

  13. Focal adhesion kinase is involved in the migration of human osteosarcoma cells

    Science.gov (United States)

    FENG, SITAN; SHI, XIN; REN, KE; WU, SUJIA; SUN, XIAOLIANG

    2015-01-01

    The aim of the present study was to analyze the expression of focal adhesion kinase (FAK) in osteosarcoma (OS) cell lines with different migration abilities in order to determine the role of FAK in migration. A number of different 143B subclone cell lines (A1, A2, A3, A4 and A5) were obtained by a limiting dilution method, and the expression of FAK was detected using western blot analysis. The role of FAK in the migration of OS cells was investigated using small interfering RNA (siRNA), and the ratio of the number of lamellipodia was compared by immunofluorescence staining. The A2 and A3 OS 143B subclone cell lines demonstrated a stronger migration ability and exhibited higher FAK expression compared with the A1 cell line (P<0.05). Following transfection with FAK-siRNA, the migration ability of the A3 cells was significantly decreased (P<0.05), and the ratio of the number of lamellipodia formed was reduced from 35 to 11% (P<0.05). In conclusion, the level of FAK expression was higher in the cell lines with a stronger migration ability. FAK affects the migration ability of OS cells by suppressing the formation of lamellipodia. PMID:26137126

  14. Utility of the indium 111-labeled human immunoglobulin G scan for the detection of focal vascular graft infection

    Energy Technology Data Exchange (ETDEWEB)

    LaMuraglia, G.M.; Fischman, A.J.; Strauss, H.W.; Keech, F.; Wilkinson, R.; Callahan, R.J.; Khaw, B.A.; Rubin, R.H.

    1989-07-01

    The ability to diagnose and localize vascular graft infections has been a major challenge. Recent studies in animal models and humans with focal bacterial infection have shown that radiolabeled, polyclonal, human immunoglobulin G accumulates at the site of inflammation and can serve as the basis for an imaging technique. This study investigated this new technique for the diagnosis and localization of vascular graft infections. Twenty-five patients with suspected vascular infections involving grafts (22), atherosclerotic aneurysms (2), and subclavian vein thrombophlebitis (1) were studied. Gamma camera images of the suspected area were obtained between 5 and 48 hours after intravenous administration of 1.5 to 2.0 mCi (56 to 74 mBq) of indium 111-labeled, human, polyclonal immunoglobulin G. Scan results were interpreted without clinical information about the patient and were subsequently correlated with surgical findings, other imaging modalities, and/or clinical follow-up. In 10 of 10 patients found to have positive scan results, localized infections were confirmed at the involved sites. In 14 of 15 patients whose scan results were interpreted as negative, no vascular infections were identified at follow-up. The patient with false-negative results and recurrent bacteremia from an aortoduodenal fistula was found to have a negative scan outcome at a time when his disease was quiescent. These data suggest that nonspecific, human, indium 111-labeled immunoglobulin G scanning can be a useful noninvasive means of localizing vascular infections.

  15. Chronotypes in Patients with Epilepsy: Does the Type of Epilepsy Make a Difference?

    Directory of Open Access Journals (Sweden)

    Hallie Kendis

    2015-01-01

    Full Text Available Circadian rhythms govern all biological functions. Circadian misalignment has a major impact on health. Late chronotype is a risk factor for circadian misalignment which in turn can affect the control of seizures in epilepsy patients. We compared a group of 87 confirmed epilepsy patients regardless of subtypes with age- and sex-matched healthy controls. We compared generalized epilepsy patients with localization related epilepsy patients and with healthy controls. We found that primary generalized epilepsy patients were 5 times more likely to have a late chronotype than healthy controls. We did not find any significant differences between localization related epilepsy patients and healthy controls or between the overall epilepsy cohort and healthy controls. Generalized epilepsy patients are more likely to be evening types as compared to those with focal epilepsy or subjects without epilepsy. Epilepsy patients do not experience the same age related increase in morningness as do age-matched healthy controls. This is important in regard to timing of AED, identifying and preventing sleep deprivation, and integrating chronotype evaluations and chronotherapy in comprehensive epilepsy care. Further studies, using objective phase markers or the impact of chronotherapy on seizure control, are necessary.

  16. Epilepsy and brain tumors

    Science.gov (United States)

    ENGLOT, DARIO J.; CHANG, EDWARD F.; VECHT, CHARLES J.

    2016-01-01

    Seizures are common in patients with brain tumors, and epilepsy can significantly impact patient quality of life. Therefore, a thorough understanding of rates and predictors of seizures, and the likelihood of seizure freedom after resection, is critical in the treatment of brain tumors. Among all tumor types, seizures are most common with glioneuronal tumors (70–80%), particularly in patients with frontotemporal or insular lesions. Seizures are also common in individuals with glioma, with the highest rates of epilepsy (60–75%) observed in patients with low-grade gliomas located in superficial cortical or insular regions. Approximately 20–50% of patients with meningioma and 20–35% of those with brain metastases also suffer from seizures. After tumor resection, approximately 60–90% are rendered seizure-free, with most favorable seizure outcomes seen in individuals with glioneuronal tumors. Gross total resection, earlier surgical therapy, and a lack of generalized seizures are common predictors of a favorable seizure outcome. With regard to anticonvulsant medication selection, evidence-based guidelines for the treatment of focal epilepsy should be followed, and individual patient factors should also be considered, including patient age, sex, organ dysfunction, comorbidity, or cotherapy. As concomitant chemotherapy commonly forms an essential part of glioma treatment, enzyme-inducing anticonvulsants should be avoided when possible. Seizure freedom is the ultimate goal in the treatment of brain tumor patients with epilepsy, given the adverse effects of seizures on quality of life. PMID:26948360

  17. Temporal Lobe Epilepsy Semiology

    Directory of Open Access Journals (Sweden)

    Robert D. G. Blair

    2012-01-01

    Full Text Available Epilepsy represents a multifaceted group of disorders divided into two broad categories, partial and generalized, based on the seizure onset zone. The identification of the neuroanatomic site of seizure onset depends on delineation of seizure semiology by a careful history together with video-EEG, and a variety of neuroimaging technologies such as MRI, fMRI, FDG-PET, MEG, or invasive intracranial EEG recording. Temporal lobe epilepsy (TLE is the commonest form of focal epilepsy and represents almost 2/3 of cases of intractable epilepsy managed surgically. A history of febrile seizures (especially complex febrile seizures is common in TLE and is frequently associated with mesial temporal sclerosis (the commonest form of TLE. Seizure auras occur in many TLE patients and often exhibit features that are relatively specific for TLE but few are of lateralizing value. Automatisms, however, often have lateralizing significance. Careful study of seizure semiology remains invaluable in addressing the search for the seizure onset zone.

  18. Kinin B1 and B2 receptors are overexpressed in the hippocampus of humans with temporal lobe epilepsy.

    Science.gov (United States)

    Perosa, Sandra Regina; Argañaraz, Gustavo Adolfo; Goto, Eduardo Massatoshi; Costa, Luciana Gilbert Pessoa; Konno, Ana Carla; Varella, Pedro Paulo Vasconcellos; Santiago, Joselita Ferreira Carvalho; Pesquero, João Bosco; Canzian, Mauro; Amado, Debora; Yacubian, Elza Marcia; Carrete, Henrique; Centeno, Ricardo Silva; Cavalheiro, Esper Abrão; Silva, Jose Antonio; Mazzacoratti, Maria da Graça Naffah

    2007-01-01

    Molecular biology tools have been employed to investigate the participation of peptides in human temporal lobe epilepsy (TLE). Active polypeptides and their receptors have been related to several brain processes, such as inflammation, apoptosis, brain development, K(+) and Ca(2+) channels' activation, cellular growth, and induction of neuronal differentiation. Previous works have shown a neuroprotector effect for kinin B2 receptor and a deleterious, pro-epileptogenic action for kinin B1 receptor in animal models of TLE. The present work was delineated to analyze the kinin B1 and B2 receptors expression in the hippocampus of patients presenting refractory mesial TLE. The hippocampi were removed during the patients surgery in a procedure used for seizure control and compared with tissues obtained after autopsy. Nissl staining was performed to study the tissue morphology and immunohistochemistry, and Western blot was used to compare the distribution and levels of both receptors in the hippocampus. In addition, real time PCR was employed to analyze the gene expression of these receptors. Nissl staining showed sclerotic hippocampi with hilar, granular, and pyramidal cell loss in TLE patients. Immunohistochemistry and Western blot analyses showed increased expression of kinin B1 and B2 receptors but the real-time PCR data demonstrated increased mRNA level only for kinin B2 receptors, when compared with controls. These data show for the first time a relationship between human TLE and the kallikrein-kinin system, confirming ours previous results, obtained from experimental models of epilepsy.

  19. Genetic linkage studies in familial partial epilepsy: Exclusion of the human chromosome regions syntenic to the El-1 mouse locus

    Energy Technology Data Exchange (ETDEWEB)

    Lopes-Cendes, I. [Montreal General Hospital (Canada); Mulley, J.C. [Alelaide Children`s Hospital (Canada); Andermann, E. [Montreal Neurological Institute and Hospital, Quebec (Canada)] [and others

    1994-09-01

    Recently, six families with a familial form of partial epilepsy were described. All pedigrees showed autosomal dominant inheritance with incomplete penetrance. Affected individuals present with predominantly nocturnal seizures with frontal lobe semiology. In 1959, a genetic mouse model for partial epilepsy, the El mouse, was reported. In the El mouse, a major seizure susceptibility gene, El-1, segregates in an autosomal dominant fashion and has been localized to a region distal to the centromere of mouse chromosome 9. Comparative genetic maps between man and mouse have been used for prediction of localization of several human disease genes. Because the region of mouse chromosome 9 that is the most likely to contain the El-1 locus is syntenic to regions on human chromosomes 3q21-p22, 3q21-q23.3, 6q12 and 15q24, we adopted the candidate gene approach as an initial linkage strategy. Twenty-two polymorphic microsatellite markers covering these regions were used for genotyping individuals in the three larger families ascertained, two of which are Australian and one French-Canadian. Negative two-point lod scores were obtained separately for each family. The analysis of all three families combined significantly excludes the candidate regions on chromosomes 3, 6 and 15.

  20. 婴儿癫痫伴游走性局灶性发作的临床及基因突变特点%Clinical features and gene mutations in epilepsy of infancy with migrating focal seizures

    Institute of Scientific and Technical Information of China (English)

    尚可为; 张月华; 杨小玲; 刘爱杰; 杨志仙; 刘晓燕; 姜玉武; 吴希如

    2016-01-01

    Objective To summarize the clinical features and geue mutations of epilepsy of infancy with migrating focal seizures (EIMFS).Method Clinical features and electroencephalograms (EEG) of 9 patients with EIMFS of Peking University First Hospital from May 2015 to January 2016 were analyzed.Candidate gene mutations were screened by next generation sequencing.Result Among the 9 patients,3 were males and 6 were females.Two patients had family history.Seizure onset age was 2 days to 3 months after birth (median age 35 days).Migrating focal seizure was presented.Seizures manifested as eyes and (or) head deviation,involuntary blinking,swallowing,trembling or stiffness of limbs,hand clenching,flushing and cyanosis of lips,etc.Four patients had a history of status epilepticus.All 9 patients had psychomotor delay.EEG of all patients presented relatively slow background;during interictal phase,there were multi-focal epileptic discharges,which dominated one hemisphere or brain region;seizures were recorded in all 9 cases,which manifested eyes or(and) head deviation,stiffening or trembling of limbs,lip smacking,etc.Corresponding EEG showed low-medium-amplitude fast waves that originated from some brain regions and migrated to other regions.Cranial magnetic resonance imaging (MRI) was abnormal in 4 cases,which predominantly showed white matter dysplasia and enlargement of subarachnoid spaces.Two cases carried heterozygous missense mutations of SCN1A gene,while 3 cases carried heterozygous missense mutations of KCNTI gene,all of which were de novo.One case carried compound heterozygous mutation of TBC1D24 gene(p.Gln207 *,p.Ala289Va).Gene mutation was not found in 3 cases.All patients used multiple antiepileptic drugs (AED) and their seizures were not controlled.Follow-up ranged from 2 months to 5 years and 8 months,during which 4 were found dead.Two were lost to follow-up.Conclusion EIMFS is clinically characterized by early onset,which is usually within 3 months after birth

  1. The Genetic Absence Epilepsy Rats from Strasbourg model of absence epilepsy exhibits alterations in fear conditioning and latent inhibition consistent with psychiatric comorbidities in humans.

    Science.gov (United States)

    Marks, Wendie N; Cavanagh, Mary E; Greba, Quentin; Cain, Stuart M; Snutch, Terrance P; Howland, John G

    2016-01-01

    Behavioural, neurological, and genetic similarities exist in epilepsies, their psychiatric comorbidities, and various psychiatric illnesses, suggesting common aetiological factors. Rodent models of epilepsy are used to characterize the comorbid symptoms apparent in epilepsy and their neurobiological mechanisms. The present study was designed to assess Pavlovian fear conditioning and latent inhibition in a polygenetic rat model of absence epilepsy, i.e. Genetic Absence Epilepsy Rats from Strasbourg (GAERS) and the non-epileptic control (NEC) strain. Electrophysiological recordings confirmed the presence of spike-wave discharges in young adult GAERS but not NEC rats. A series of behavioural tests designed to assess anxiety-like behaviour (elevated plus maze, open field, acoustic startle response) and cognition (Pavlovian conditioning and latent inhibition) was subsequently conducted on male and female offspring. Results showed that GAERS exhibited significantly higher anxiety-like behaviour, a characteristic reported previously. In addition, using two protocols that differed in shock intensity, we found that both sexes of GAERS displayed exaggerated cued and contextual Pavlovian fear conditioning and impaired fear extinction. Fear reinstatement to the conditioned stimuli following unsignalled footshocks did not differ between the strains. Male GAERS also showed impaired latent inhibition in a paradigm using Pavlovian fear conditioning, suggesting that they may have altered attention, particularly related to previously irrelevant stimuli in the environment. Neither the female GAERS nor NEC rats showed evidence of latent inhibition in our paradigm. Together, the results suggest that GAERS may be a particularly useful model for assessing therapeutics designed to improve the emotional and cognitive disturbances associated with absence epilepsy.

  2. Human iPSC-Derived GABA Ergic Precursor Cell Therapy for Chronic Epilepsy

    Science.gov (United States)

    2015-10-01

    survival surgery to animals assigned to this group (n=11) over 2-3 surgery sessions. This involved bilateral injections of the cell culture medium...this group (n=11) over 2-3 surgery sessions (Subtask 1c of Task 1). This involved bilateral injections of the cell culture medium into the...rats in sham-surgery and epilepsy-only groups. The donor cells for grafting were generated from hiPSCs through directed differentiation methods . These

  3. Human bedside evaluation versus automatic responsiveness testing in epilepsy (ARTiE).

    Science.gov (United States)

    Touloumes, George; Morse, Elliot; Chen, William C; Gober, Leah; Dente, Jennifer; Lilenbaum, Rachel; Katzenstein, Emily; Pacelli, Ashley; Johnson, Emily; Si, Yang; Sivaraju, Adithya; Grover, Eric; Khozein, Rebecca; Cunningham, Courtney; Hirsch, Lawrence J; Blumenfeld, Hal

    2016-01-01

    Evaluation of behavioral impairment during epileptic seizures is critical for medical decision making, including accurate diagnosis, recommendations for driving, and presurgical evaluation. We investigated the quality of behavioral testing during inpatient video-electroencephalography (EEG) monitoring at an established epilepsy center, and introduce a technical innovation that may improve clinical care. We retrospectively reviewed video-EEG data from 152 seizures in 33 adult or pediatric patients admitted for video-EEG monitoring. Behavioral testing with questions or commands was performed in only 50% of seizures ictally, 73% of seizures postictally, and 80% with either ictal or postictal testing combined. Furthermore, the questions or commands were highly inconsistent and were performed by nonmedical personnel in about one fourth of cases. In an effort to improve this situation we developed and here introduce Automatic Responsiveness Testing in Epilepsy (ARTiE), a series of video-recorded behavioral tasks automatically triggered to play in the patient's room by computerized seizure detection. In initial technical testing using prerecorded or live video-EEG data we found that ARTiE is initiated reliably by automatic seizure detection. With additional clinical testing we hope that ARTiE will succeed in providing comprehensive and reliable behavioral evaluation during seizures for people with epilepsy to greatly improve their clinical care.

  4. [Focal epithelial hyperplasia].

    Science.gov (United States)

    Vera-Iglesias, E; García-Arpa, M; Sánchez-Caminero, P; Romero-Aguilera, G; Cortina de la Calle, P

    2007-11-01

    Focal epithelial hyperplasia is a rare disease of the oral mucosa caused by the human papilloma virus (HPV). It appears as a benign epithelial growth, usually in the mucosa of the lower lip. It is mainly associated with HPV serotypes 13 and 32 and there is a clear racial predilection for the disease in Native Americans and Eskimos. We describe the case of a 17-year-old girl from Ecuador with multiple papular lesions in both lips that were clinically and histologically consistent with focal epithelial hyperplasia. Analysis by polymerase chain reaction detected HPV serotype 13.

  5. A child with ictal vocalizations and generalized epilepsy.

    Science.gov (United States)

    Kurian, Mary; Heritier Barras, Anne-Chantal; Korff, Christian M

    2015-03-01

    Ictal vocalizations in the form of both articulate speech and non-speech vocalizations have been described in focal epilepsies, with seizures originating mainly from the frontal and temporal lobe, however, this phenomenon has not been described in generalized epilepsies. We report the case of an adolescent boy with juvenile-onset generalized epilepsy who presented with ictal "ovine vocalizations" (resembling the bleating of sheep). The ictal EEG revealed a clear correlate of vocalizations with time-locked generalized spikes and polyspike discharges. The 3T cerebral MRI ruled out any focal lesion. The boy is currently seizure-free under valproic acid, after twelve months of follow-up. We conclude that ictal non-speech vocalizations may be observed not only in focal or structural epilepsies, but also in generalized epilepsies; the exact underlying mechanism of this phenomenon needs to be further delineated. [Published with video sequence].

  6. Coeliac disease and epilepsy.

    LENUS (Irish Health Repository)

    Cronin, C C

    2012-02-03

    Whether there is an association between coeliac disease and epilepsy is uncertain. Recently, a syndrome of coeliac disease, occipital lobe epilepsy and cerebral calcification has been described, mostly in Italy. We measured the prevalence of coeliac disease in patients attending a seizure clinic, and investigated whether cerebral calcification occurred in patients with both coeliac disease and epilepsy. Screening for coeliac disease was by IgA endomysial antibody, measured by indirect immunofluorescence using sections of human umbilical cord. Of 177 patients screened, four patients were positive. All had small-bowel histology typical of coeliac disease. The overall frequency of coeliac disease in this mixed patient sample was 1 in 44. In a control group of 488 pregnant patients, two serum samples were positive (1 in 244). Sixteen patients with both coeliac disease and epilepsy, who had previously attended this hospital, were identified. No patient had cerebral calcification on CT scanning. Coeliac disease appears to occur with increased frequency in patients with epilepsy, and a high index of suspicion should be maintained. Cerebral calcification is not a feature of our patients with epilepsy and coeliac disease, and may be an ethnically-or geographically-restricted finding.

  7. Resveratrol and Estradiol Exert Disparate Effects on Cell Migration, Cell Surface Actin Structures, and Focal Adhesion Assembly in MDA-MB-231 Human Breast Cancer Cells

    Directory of Open Access Journals (Sweden)

    Nicolas G. Azios

    2005-02-01

    Full Text Available Resveratrol, a grape polyphenol, is thought to be a cancer preventive, yet its effects on metastatic breast cancer are relatively unknown. Since cancer cell invasion is dependent on cell migration, the chemotactic response of MDA-MB-231 metastatic human breast cancer cells to resveratrol, estradiol (E2, or epidermal growth factor (EGF was investigated. Resveratrol decreased while E2 and EGF increased directed cell migration. Resveratrol may inhibit cell migration by altering the cytoskeleton. Resveratrol induced a rapid global array of filopodia and decreased focal adhesions and focal adhesion kinase (FAK activity. E2 or EGF treatment did not affect filopodia extension but increased lamellipodia and associated focal adhesions that are integral for cell migration. Combined resveratrol and E2 treatment resulted in a filopodia and focal adhesion response similar to resveratrol alone. Combined resveratrol and EGF resulted in a lamellipodia and focal adhesion response similar to EGF alone. E2 and to a lesser extent resveratrol increased EGFR activity. The cytoskeletal changes and EGFR activity in response to E2 were blocked by EGFR1 inhibitor indicating that E2 may increase cell migration via crosstalk with EGFR signaling. These data suggest a promotional role for E2 in breast cancer cell migration but an antiestrogenic, preventative role for resveratrol.

  8. Rub epilepsy in an infant with Turner syndrome.

    Science.gov (United States)

    Magara, Shin-Ichi; Kawashima, Hideshi; Kobayashi, Yu; Akasaka, Noriyuki; Yamazaki, Sawako; Tohyama, Jun

    2015-08-01

    We report a case of infantile refractory epilepsy associated with Turner syndrome (TS), showing very frequent, focal clonic seizures of the left upper extremity. Characteristically, in addition to spontaneous fits, her seizure was inducible by rubbing her left hand and forearm for a few seconds. Accordingly, she was diagnosed with a rare form of reflex epilepsy, "rub epilepsy". Neuroradiological investigation indicated the existence of cortical abnormalities, such as focal cortical dysplasia of the right parietal lobe. Patients with TS are reported to have neuroanatomical abnormalities, especially of the parietal lobe. Thus, our case may imply a causal relationship between potential cortical hyperexcitability of the parietal lobe and epilepsy in TS. This is the first reported infantile case of rub epilepsy, and more generally, reflex epilepsy associated with TS.

  9. Comorbidity between headache and epilepsy in a pediatric headache center.

    Science.gov (United States)

    Toldo, Irene; Perissinotto, Egle; Menegazzo, Francesca; Boniver, Clementina; Sartori, Stefano; Salviati, Leonardo; Clementi, Maurizio; Montagna, Pasquale; Battistella, Pier Antonio

    2010-06-01

    The purpose of this study was to analyse the comorbidity between headache and epilepsy in a large series of children with headache (1,795). Fifty-six cases (3.1%) suffered from idiopathic headache and idiopathic or cryptogenic epilepsy or unprovoked seizures. There was a strong association between migraine and epilepsy: in migraineurs (46/56) the risk of epilepsy was 3.2 times higher when compared with tension-type headache, without significant difference between migraine with and without aura (P = 0.89); children with epilepsy had a 4.5-fold increased risk of developing migraine than tension-type headache. In cases with comorbidity, focal epilepsies prevailed (43/56, 76.8%). Migraineurs affected by focal epilepsies (36/56) had a three times higher risk of having a cryptogenic epilepsy (27/36, 75%) than an idiopathic epilepsy (9/36, 25%) (P = 0.003). In migraine with aura, epilepsy preceded migraine in 71% of cases. Photosensitivity (7/56, 12.5%) and positive family history for epilepsy (22/56, 39%) were frequent in cases with comorbidity.

  10. Focal adhesion kinase is a phospho-regulated repressor of Rac and proliferation in human endothelial cells

    Directory of Open Access Journals (Sweden)

    Patrick W. Bryant

    2012-06-01

    Focal adhesion kinase (FAK is critically positioned to integrate signals from the extracellular matrix and cellular adhesion. It is essential for normal vascular development and has been implicated in a wide range of cellular functions including the regulation of cell proliferation, migration, differentiation, and survival. It is currently being actively targeted therapeutically using different approaches. We have used human endothelial cells as a model system to compare the effects of inhibiting FAK through several different approaches including dominant negatives, kinase inhibitors and shRNA. We find that manipulations of FAK signaling that result in inhibition of FAK 397 phosphorylation inhibit proliferation and migration. However, abolition of FAK expression using stable (shRNA or transient (siRNA approaches does not interfere with these cellular functions. The ability to regulate cell proliferation by FAK manipulation is correlated with the activation status of Rac, an essential signal for the regulation of cyclin-dependent kinase inhibitors. The knockdown of FAK, while not affecting cellular proliferation or migration, dramatically interferes with vascular morphogenesis and survival, mirroring in vivo findings. We propose a novel model of FAK signaling whereby one of the multifunctional roles of FAK as a signaling protein includes FAK as a phospho-regulated repressor of Rac activation, with important implications on interpretation of research experiments and therapeutic development.

  11. Focal adhesion kinase is involved in type III group B streptococcal invasion of human brain microvascular endothelial cells.

    Science.gov (United States)

    Shin, Sooan; Paul-Satyaseela, Maneesh; Maneesh, Paul-Satyaseela; Lee, Jong-Seok; Romer, Lewis H; Kim, Kwang Sik

    2006-01-01

    Group B streptococcus (GBS), the leading cause of neonatal meningitis, has been shown to invade human brain microvascular endothelial cells (HBMEC), which constitute the blood-brain barrier. GBS invasion of HBMEC has been shown to require the host cell actin cytoskeleton rearrangements. The present study examined the mechanisms underlying actin cytoskeleton rearrangements that are involved in type III GBS invasion of HBMEC. We showed that type III GBS invasion was inhibited by genistein, a general tyrosine kinase inhibitor (mean 54% invasion decrease at 100 microM), and LY294002, a phosphatidylinositol 3 (PI3) kinase inhibitor (mean 70% invasion decrease at 50 microM), but not by PP2, an inhibitor of the Src family tyrosine kinases. We subsequently showed that the focal adhesion kinase (FAK) was the one of the host proteins tyrosine phosphorylated by type III GBS. Over-expression of a dominant negative form of the FAK C-terminal domain significantly decreased type III GBS invasion of HBMEC (mean 51% invasion decrease). In addition, we showed that FAK phosphorylation correlated with its association of paxillin, an adapter protein of actin filament, and PI3-kinase subunit p85. This is the first demonstration that FAK phosphorylation and its association with paxillin and PI3 kinase play a key role in type III GBS invasion of HBMEC.

  12. Development of a Human Head FE Model and Impact Simulation on the Focal Brain Injury

    Science.gov (United States)

    Watanabe, Dai; Yuge, Kohei; Nishimoto, Tetsuya; Murakami, Shigeyuki; Takao, Hiroyuki

    In this paper, a three-dimensional digital human-head model was developed and several dynamic analyses on the head trauma were conducted. This model was built up by the VOXEL approach using 433 slice CT images (512×512 pixels) and made of 1.22 million parallelepiped finite elements with 10 anatomical tissue properties such as scalp, CSF, skull, brain, dura mater and so on. The numerical analyses were conducted using a finite element code the authors have developed. The main features of the code are 1) it is based on the explicit time integration method and 2) it uses the one point integration method to evaluate the equivalent nodal forces with the hourglass control proposed by Flanagan and Belytschko(1) and 3) it utilizes the parallel computation system based on MPI. In order to verify the developed model, the head impact experiment for a cadaver by Nahum et al.(2) was simulated. The calculated results showed good agreement with the experimental ones. A front and rear impact analyses were also performed to discuss on the characteristic measure of the brain injury, in which the von-Mises stress was high in the frontal lobe in both of the analyses because of the large deformations of a frontal cranial base. This result suggests that the von-Mises stress can be a good measure of the brain injury since it is empirically well known that the frontal lobe tends to get injured regardless of the impact positions.

  13. Animal models for mesiotemporal lobe epilepsy: The end of a misunderstanding?

    Science.gov (United States)

    Depaulis, A; Hamelin, S

    2015-03-01

    The fact that epilepsy consists in multiple heterogeneous syndromes with different etiologies and different symptoms is insufficiently taken into account in current animal models. This is in particular the case when modeling mesiotemporal lobe epilepsy (MTLE) for which clinical, electrophysiological, histological and pharmacological features have been well described in the clinic but only partially reproduced in most rodent models. In this review, we report the data of our recent survey of european neurologists with expertise in epilepsy. The answers of 82 of them (out of 258) indicated that seizures with mild behavioral signs, hippocampal sclerosis and focal discharges were the three most critical features to be considered when developing an animal model of MTLE. We then examined how these features are reproduced in three different types of animal models of MTLE depending on their induction: (i) generalized convulsive status epilepticus; (ii) hyperthermic seizures in immature animals and (iii) focal status epilepticus. Among them, only rodent models resulting from the induction of a focal status epilepticus appear to present most characteristics of human MTLE. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  14. THERAPY FOR EPILEPSY IN MIDDLE-AGED AND ELDERLY PATIENTS

    OpenAIRE

    O V Andreeva; P. N. Vlasov; O V Andreyeva

    2009-01-01

    Moscow State Medical University of Dentistry The authors consider the specific features of epilepsy in middle-aged and elderly patients: a preponderance of focal symptomatic and cryptogenic epilepsies, a frequent combination with concomitant mental and somatic diseases, and a relative efficacy of small-dose antiepileptic drugs (AED). Choice of therapy is noted to depend on the form of epilepsy/type of seizures, comorbidity and used medicines. A major focus is on the use of basic AEDs R carbam...

  15. HIPPOCAMPAL SCLEROSIS IN EPILEPSY AND CHILDHOOD FEBRILE SEIZURES

    NARCIS (Netherlands)

    KUKS, JBM; COOK, MJ; FISH, DR; STEVENS, JM; SHORVON, SD

    1993-01-01

    The connection between hippocampal sclerosis and childhood febrile seizures (CFS) is a contentious issue in the study of epilepsy. We investigated 107 patients with drug-resistant epilepsy by high-resolution volumetric magnetic resonance imaging (MRI). 20 had a history of CFS, 45 had focal (26) or

  16. New presurgical techniques to characterize the focus of epilepsy

    NARCIS (Netherlands)

    Zijlmans, G.J.M.

    2011-01-01

    Patients with focal epilepsy who do not respond to anti-epileptic medication can be eligible for epilepsy surgery, which might cure this disabling disease. However, the question is which brain tissue is epileptogenic and needs to be removed. Information on the epileptogenic zone can be obtained by

  17. New presurgical techniques to characterize the focus of epilepsy

    NARCIS (Netherlands)

    Zijlmans, G.J.M.

    2011-01-01

    Patients with focal epilepsy who do not respond to anti-epileptic medication can be eligible for epilepsy surgery, which might cure this disabling disease. However, the question is which brain tissue is epileptogenic and needs to be removed. Information on the epileptogenic zone can be obtained by s

  18. New presurgical techniques to characterize the focus of epilepsy

    NARCIS (Netherlands)

    Zijlmans, G.J.M.|info:eu-repo/dai/nl/304819581

    2011-01-01

    Patients with focal epilepsy who do not respond to anti-epileptic medication can be eligible for epilepsy surgery, which might cure this disabling disease. However, the question is which brain tissue is epileptogenic and needs to be removed. Information on the epileptogenic zone can be obtained by s

  19. Focal cortical dysplasia – review

    Science.gov (United States)

    Kabat, Joanna; Król, Przemysław

    2012-01-01

    Summary Focal cortical dysplasia is a malformation of cortical development, which is the most common cause of medically refractory epilepsy in the pediatric population and the second/third most common etiology of medically intractable seizures in adults. Both genetic and acquired factors are involved in the pathogenesis of cortical dysplasia. Numerous classifications of the complex structural abnormalities of focal cortical dysplasia have been proposed – from Taylor et al. in 1971 to the last modification of Palmini classification made by Blumcke in 2011. In general, three types of cortical dysplasia are recognized. Type I focal cortical dysplasia with mild symptomatic expression and late onset, is more often seen in adults, with changes present in the temporal lobe. Clinical symptoms are more severe in type II of cortical dysplasia usually seen in children. In this type, more extensive changes occur outside the temporal lobe with predilection for the frontal lobes. New type III is one of the above dysplasias with associated another principal lesion as hippocampal sclerosis, tumor, vascular malformation or acquired pathology during early life. Brain MRI imaging shows abnormalities in the majority of type II dysplasias and in only some of type I cortical dysplasias. The most common findings on MRI imaging include: focal cortical thickening or thinning, areas of focal brain atrophy, blurring of the gray-white junction, increased signal on T2- and FLAIR-weighted images in the gray and subcortical white matter often tapering toward the ventricle. On the basis of the MRI findings, it is possible to differentiate between type I and type II cortical dysplasia. A complete resection of the epileptogenic zone is required for seizure-free life. MRI imaging is very helpful to identify those patients who are likely to benefit from surgical treatment in a group of patients with drug-resistant epilepsy. However, in type I cortical dysplasia, MR imaging is often normal, and also

  20. Correlation between neuronal injury and Caspase-3 after focal ischemia in human hippocampus

    Institute of Scientific and Technical Information of China (English)

    戚基萍; 吴爱萍; 王德生; 王立峰; 李淑霞; 徐凤琳

    2004-01-01

    Background Cerebral ischemia is a significant clinical problem, and cerebral ischemia usually causes neuron injury such as apoptosis in various brain areas, including hippocampus. Cysteinyl aspartate-specific protease (Caspases) are fundamental factors of apoptotic mechanism. Caspase-3 inhibitors show effect in attenuating brain injury after ischemia. But all the results were from animal models in research laboratories. This study aimed at investigating the correlation between the change of ischemic neuronal injury and Caspase-3 post-ischemia in human hippocampus. Methods We selected and systematized 48 post-mortem specimens from 48 patients, who died of cerebral infarction. Morphological change was firstly analyzed by observing hematoxyline/eosin-staining hippocampal sections. The expression of Caspase-3 was investigated using the methods of in situ hybridization and immunohistochemistry. Terminal deoxynucleotidyl transferase-mediated 2'-deoxyuridine 5'-triphosphate-biotin nick-end labeling (TUNEL) method was used to clarify the involvement of Caspase-3 in neuron death. The loss of MAP 2 (MAP-2) was applied to judging the damaged area and degree of neuronal injury caused by ischemia.Results In the CA1 sector of hippocampus, Caspase-3 immunostaining modestly increased at 8 hours [8.05/high-power field (hpf)], dramatically increased at 24 hours (24.85/hpf), decreased somewhat after 72 hours. Caspase-3 mRNA was detectable at 4 hours (6.75/hpf), reached a maximum at 16 hours (17.60/hpf), faded at 72 hours. TUNEL-positive cells were detectable at 24 hours (10.76/hpf), markedly increased at 48-72 hours. The loss of MAP-2 was obviously detected at 4 hours, progressed significantly between 24 and 72 hours; MAP-2 immunoreactivity was barely detectable at 72 hours. Before 72 hours, the Caspase-3 evolution was related with the upregulation of TUNEL and the loss of MAP-2. The positive correlation between Caspase-3 mRNA and TUNEL was significant at the 0.05 level (correlation

  1. Human-derived physiological heat shock protein 27 complex protects brain after focal cerebral ischemia in mice.

    Directory of Open Access Journals (Sweden)

    Shinichiro Teramoto

    Full Text Available Although challenging, neuroprotective therapies for ischemic stroke remain an interesting strategy for countering ischemic injury and suppressing brain tissue damage. Among potential neuroprotective molecules, heat shock protein 27 (HSP27 is a strong cell death suppressor. To assess the neuroprotective effects of HSP27 in a mouse model of transient middle cerebral artery occlusion, we purified a "physiological" HSP27 (hHSP27 from normal human lymphocytes. hHSP27 differed from recombinant HSP27 in that it formed dimeric, tetrameric, and multimeric complexes, was phosphorylated, and contained small amounts of αβ-crystallin and HSP20. Mice received intravenous injections of hHSP27 following focal cerebral ischemia. Infarct volume, neurological deficit scores, physiological parameters, and immunohistochemical analyses were evaluated 24 h after reperfusion. Intravenous injections of hHSP27 1 h after reperfusion significantly reduced infarct size and improved neurological deficits. Injected hHSP27 was localized in neurons on the ischemic side of the brain. hHSP27 suppressed neuronal cell death resulting from cytochrome c-mediated caspase activation, oxidative stress, and inflammatory responses. Recombinant HSP27 (rHSP27, which was artificially expressed and purified from Escherichia coli, and dephosphorylated hHSP27 did not have brain protective effects, suggesting that the phosphorylation of hHSP27 may be important for neuroprotection after ischemic insults. The present study suggests that hHSP27 with posttranslational modifications provided neuroprotection against ischemia/reperfusion injury and that the protection was mediated through the inhibition of apoptosis, oxidative stress, and inflammation. Intravenously injected human HSP27 should be explored for the treatment of acute ischemic strokes.

  2. Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome.

    Directory of Open Access Journals (Sweden)

    Wei Liu

    Full Text Available BACKGROUND: Focal Dermal Hypoplasia (FDH is a genetic disorder characterized by developmental defects in skin, skeleton and ectodermal appendages. FDH is caused by dominant loss-of-function mutations in X-linked PORCN. PORCN orthologues in Drosophila and mice encode endoplasmic reticulum proteins required for secretion and function of Wnt proteins. Wnt proteins play important roles in embryo development, tissue homeostasis and stem cell maintenance. Since features of FDH overlap with those seen in mouse Wnt pathway mutants, FDH likely results from defective Wnt signaling but molecular mechanisms by which inactivation of PORCN affects Wnt signaling and manifestations of FDH remain to be elucidated. RESULTS: We introduced intronic loxP sites and a neomycin gene in the mouse Porcn locus for conditional inactivation. Porcn-ex3-7flox mice have no apparent developmental defects, but chimeric mice retaining the neomycin gene (Porcn-ex3-7Neo-flox have limb, skin, and urogenital abnormalities. Conditional Porcn inactivation by EIIa-driven or Hprt-driven Cre recombinase results in increased early embryonic lethality. Mesenchyme-specific Prx-Cre-driven inactivation of Porcn produces FDH-like limb defects, while ectodermal Krt14-Cre-driven inactivation produces thin skin, alopecia, and abnormal dentition. Furthermore, cell-based assays confirm that human PORCN mutations reduce WNT3A secretion. CONCLUSIONS: These data indicate that Porcn inactivation in the mouse produces a model for human FDH and that phenotypic features result from defective WNT signaling in ectodermal- and mesenchymal-derived structures.

  3. Relaxation and phase space singularities in time series of human magnetoencephalograms can serve as an indicator of the photosensitive epilepsy

    CERN Document Server

    Yulmetyev, R M; Hänggi, P; Khusaenova, E V; Shimojo, S; Yulmetyeva, D G

    2006-01-01

    To analyze the crucial role of the fluctuation and relaxational effects in the human brain functioning we have studied a some statistical quantifiers that support the informational characteristics of neuromagnetic responses of magnetoencephalographic (MEG) signals. The signals to a flickering stimulus of different color combinations has been obtained from a group of control subjects which is contrasted with those for a patient with photosensitive epilepsy (PSE). We have revealed that the existence of the specific stratification of the phase clouds and the concomitant relaxation singularities of the corresponding nonequilibrium processes of chaotic behavior of the signals in the separate areas for a patient most likely shows the pronounced zones responsible the appearance of PSE.

  4. Reduced language connectivity in pediatric epilepsy.

    Science.gov (United States)

    Sepeta, Leigh N; Croft, Louise J; Zimmaro, Lauren A; Duke, Elizabeth S; Terwilliger, Virginia K; Yerys, Benjamin E; You, Xiaozhen; Vaidya, Chandan J; Gaillard, William D; Berl, Madison M

    2015-02-01

    Functional connectivity (FC) among language regions is decreased in adults with epilepsy compared to controls, but less is known about FC in children with epilepsy. We sought to determine if language FC is reduced in pediatric epilepsy, and examined clinical factors that associate with language FC in this population. We assessed FC during an age-adjusted language task in children with left-hemisphere focal epilepsy (n = 19) compared to controls (n = 19). Time series data were extracted for three left regions of interest (ROIS) and their right homologues: inferior frontal gyrus (IFG), middle frontal gyrus (MFG), and Wernicke's area (WA) using SPM8. Associations between FC and factors such as cognitive performance, language dominance, and epilepsy duration were assessed. Children with epilepsy showed decreased interhemispheric connectivity compared to controls, particularly between core left language regions (IFG, WA) and their right hemisphere homologues, as well as decreased intrahemispheric right frontal FC. Increased intrahemispheric FC between left IFG and left WA was a positive predictor of language skills overall, and naming ability in particular. FC of language areas was not affected by language dominance, as the effects remained only when examining participants with left language dominance. Overall FC did not differ according to duration of epilepsy or age of onset. FC during a language task is reduced in children, similar to findings in adults. In specific, children with left focal epilepsy demonstrated decreased interhemispheric FC in temporal and frontal language connections and decreased intrahemispheric right frontal FC. These differences were present near the onset of epilepsy. Greater FC between left language centers is related to better language ability. Our results highlight that connectivity of language areas has a developmental pattern and is related to cognitive ability. Wiley Periodicals, Inc. © 2014 International League Against Epilepsy.

  5. Cingulate Epilepsy

    Science.gov (United States)

    Alkawadri, Rafeed; So, Norman K.; Van Ness, Paul C.; Alexopoulos, Andreas V.

    2016-01-01

    IMPORTANCE The literature on cingulate gyrus epilepsy in the magnetic resonance imaging era is limited to case reports and small case series. To our knowledge, this is the largest study of surgically confirmed epilepsy arising from the anterior or posterior cingulate region. OBJECTIVE To characterize the clinical and electrophysiological findings of epilepsies arising from the anterior and posterior cingulate gyrus. DESIGN, SETTING, AND PARTICIPANTS We studied consecutive cingulate gyrus epilepsy cases identified retrospectively from the Cleveland Clinic and University of Texas Southwestern Medical Center epilepsy databases from 1992 to 2009. Participants included 14 consecutive cases of cingulate gyrus epilepsies confirmed by restricted magnetic resonance image lesions and seizure freedom or marked improvement following lesionectomy. MAIN OUTCOMES AND MEASURES The main outcome measure was improvement in seizure frequency following surgery. The clinical, video electroencephalography, neuroimaging, pathology, and surgical outcome data were reviewed. RESULTS All 14 patients had cingulate epilepsy confirmed by restricted magnetic resonance image lesions and seizure freedom or marked improvement following lesionectomy. They were divided into 3 groups based on anatomical location of the lesion and corresponding seizure semiology. In the posterior cingulate group, all 4 patients had electroclinical findings suggestive of temporal origin of the epilepsy. The anterior cingulate cases were divided into a typical (Bancaud) group (6 cases with hypermotor seizures and infrequent generalization with the presence of fear, laughter, or severe interictal personality changes) and an atypical group (4 cases presenting with simple motor seizures and a tendency for more frequent generalization and less-favorable long-term surgical outcome). All atypical cases were associated with an underlying infiltrative astrocytoma. CONCLUSIONS AND RELEVANCE Posterior cingulate gyrus epilepsy may

  6. Familial risk of epilepsy: a population-based study

    Science.gov (United States)

    Peljto, Anna L.; Barker-Cummings, Christie; Vasoli, Vincent M.; Leibson, Cynthia L.; Hauser, W. Allen; Buchhalter, Jeffrey R.

    2014-01-01

    Almost all previous studies of familial risk of epilepsy have had potentially serious methodological limitations. Our goal was to address these limitations and provide more rigorous estimates of familial risk in a population-based study. We used the unique resources of the Rochester Epidemiology Project to identify all 660 Rochester, Minnesota residents born in 1920 or later with incidence of epilepsy from 1935–94 (probands) and their 2439 first-degree relatives who resided in Olmsted County. We assessed incidence of epilepsy in relatives by comprehensive review of the relatives’ medical records, and estimated age-specific cumulative incidence and standardized incidence ratios for epilepsy in relatives compared with the general population, according to proband and relative characteristics. Among relatives of all probands, cumulative incidence of epilepsy to age 40 was 4.7%, and risk was increased 3.3-fold (95% confidence interval 2.75–5.99) compared with population incidence. Risk was increased to the greatest extent in relatives of probands with idiopathic generalized epilepsies (standardized incidence ratio 6.0) and epilepsies associated with intellectual or motor disability presumed present from birth, which we denoted ‘prenatal/developmental cause’ (standardized incidence ratio 4.3). Among relatives of probands with epilepsy without identified cause (including epilepsies classified as ‘idiopathic’ or ‘unknown cause’), risk was significantly increased for epilepsy of prenatal/developmental cause (standardized incidence ratio 4.1). Similarly, among relatives of probands with prenatal/developmental cause, risk was significantly increased for epilepsies without identified cause (standardized incidence ratio 3.8). In relatives of probands with generalized epilepsy, standardized incidence ratios were 8.3 (95% confidence interval 2.93–15.31) for generalized epilepsy and 2.5 (95% confidence interval 0.92–4.00) for focal epilepsy. In relatives of

  7. Epilepsie aktuell

    DEFF Research Database (Denmark)

    Berendt, Mette; Hüelsmeyer, Velia-Isabel; Bhatti, Sofie F. M.

    2016-01-01

    of the consensus statements “IVETF consensus report on epilepsy definition, classification and terminology in companion animals” and “IVETF’s current understanding of idiopathic epilepsy of genetic or suspected genetic origin in purebred dogs” in German language to inform German veterinarians and professional...... circles about new knowledge and innovations in these fields. In the first part of the article, it is explained, why a new classification system of epilepsy and a common language to describe the disease is necessary. The proposals of the IVETF regarding the classification system and the terminology...... animals” und „IVETF’s current understanding of idiopathic epilepsy of genetic or suspected genetic origin in purebred dogs” in deutscher Sprache zusammengefasst, um die deutsche Tierärzteschaft über aktuelle Erkenntnisse und Neuerungen auf diesen Gebieten zu informieren. Im ersten Teil des Artikels werden...

  8. Targeting Epilepsy

    Science.gov (United States)

    ... productivity) each year. Adults with epilepsy report worse mental health, more cognitive impairment, barriers in social participation, and ... to care, such as lack of transportation or stigma. Health professionals can also earn continuing education credits for ...

  9. Epilepsy - children

    Science.gov (United States)

    ... Philadelphia, PA: Elsevier; 2012:chap 50. Freeman J, Harvey S. Seizures and epilepsies. In: South M, Ashwal S, Isaacs ... School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the ...

  10. Autoimmune epilepsy.

    Science.gov (United States)

    Greco, Antonio; Rizzo, Maria Ida; De Virgilio, Armando; Conte, Michela; Gallo, Andrea; Attanasio, Giuseppe; Ruoppolo, Giovanni; de Vincentiis, Marco

    2016-03-01

    Despite the fact that epilepsy is the third most common chronic brain disorder, relatively little is known about the processes leading to the generation of seizures. Accumulating data support an autoimmune basis in patients with antiepileptic drug-resistant seizures. Besides, recent studies show that epilepsy and autoimmune disease frequently co-occur. Autoimmune epilepsy is increasingly recognized in the spectrum of neurological disorders characterized by detection of neural autoantibodies in serum or spinal fluid and responsiveness to immunotherapy. An autoimmune cause is suspected based on frequent or medically intractable seizures and the presence of at least one neural antibody, inflammatory changes indicated in serum or spinal fluid or on MRI, or a personal or family history of autoimmunity. It is essential that an autoimmune etiology be considered in the initial differential diagnosis of new onset epilepsy, because early immunotherapy assures an optimal outcome for the patient.

  11. Oral focal epithelial hyperplasia.

    Science.gov (United States)

    López-Jornet, Pía; Camacho-Alonso, Fabio; Berdugo, Lucero

    2010-01-01

    Focal epithelial hyperplasia (FEH) is a benign, asymptomatic disease. It appears as papules, principally on the lower lip, although it can also be found on the retro-commissural mucosa and tongue and, less frequently, on the upper lip, gingiva and palate. FEH is caused by human papillomavirus subtype 13 or 32. The condition occurs in many populations and ethnic groups. We present the clinical case of a 31-year-old male with lesions that clinically and histologically corresponded to FEH.

  12. Identification of miRNAs differentially expressed in human epilepsy with or without granule cell pathology.

    Directory of Open Access Journals (Sweden)

    Silvia Zucchini

    Full Text Available The microRNAs (miRNAs are small size non-coding RNAs that regulate expression of target mRNAs at post-transcriptional level. miRNAs differentially expressed under pathological conditions may help identifying mechanisms underlying the disease and may represent biomarkers with prognostic value. However, this kind of studies are difficult in the brain because of the cellular heterogeneity of the tissue and of the limited access to fresh tissue. Here, we focused on a pathology affecting specific cells in a subpopulation of epileptic brains (hippocampal granule cells, an approach that bypasses the above problems. All patients underwent surgery for intractable temporal lobe epilepsy and had hippocampal sclerosis associated with no granule cell pathology in half of the cases and with type-2 granule cell pathology (granule cell layer dispersion or bilamination in the other half. The expression of more than 1000 miRNAs was examined in the laser-microdissected dentate granule cell layer. Twelve miRNAs were differentially expressed in the two groups. One of these, miR487a, was confirmed to be expressed at highly differential levels in an extended cohort of patients, using RT-qPCR. Bioinformatics searches and RT-qPCR verification identified ANTXR1 as a possible target of miR487a. ANTXR1 may be directly implicated in granule cell dispersion because it is an adhesion molecule that favors cell spreading. Thus, miR487a could be the first identified element of a miRNA signature that may be useful for prognostic evaluation of post-surgical epilepsy and may drive mechanistic studies leading to the identification of therapeutic targets.

  13. [Photosensitive epilepsy and television epilepsy].

    Science.gov (United States)

    Parain, D; Blondeau, C

    2000-01-01

    Photosensitivity is defined by the appearance of occipital or more diffuse electroencephalographic spikes and waves induced by intermittent light stimulation (ILS), particular patterns, TV-watching, and video games. Photosensitivity is a genetic characteristic. Only the diffuse spikes and waves induced by ILS are correlated with epilepsy. Pure photogenic epilepsy is characterized by seizures which are only visually induced, usually by watching TV. Video games sometimes add a trigger effect due to slowly moving patterns or intense brightness. Several epileptic syndromes are associated with a photosensitivity with or without visually-induced seizures, mainly generalized idiopathic epilepsy.

  14. Ambroxol-induced focal epileptic seizure.

    Science.gov (United States)

    Lapenta, Leonardo; Morano, Alessandra; Fattouch, Jinane; Casciato, Sara; Fanella, Martina; Giallonardo, Anna Teresa; Di Bonaventura, Carlo

    2014-01-01

    It is well known that in epileptic patients some compounds and different drugs used for the treatment of comorbidities can facilitate or provoke seizures, this evidence regarding a wide spectrum of pharmacological categories. The potential facilitating factors usually include direct toxic effects or pharmacological interactions of either active ingredients or excipients. We report the case of a patient with drug-resistant epilepsy who experienced focal epileptic seizures, easily and constantly reproducible, after each administration of a cough syrup. This is, to our knowledge, the first electroencephalogram-documented case of focal epileptic seizures induced by cough syrup containing ambroxol as active ingredient.

  15. Multimedia human brain database system for surgical candidacy determination in temporal lobe epilepsy with content-based image retrieval

    Science.gov (United States)

    Siadat, Mohammad-Reza; Soltanian-Zadeh, Hamid; Fotouhi, Farshad A.; Elisevich, Kost

    2003-01-01

    This paper presents the development of a human brain multimedia database for surgical candidacy determination in temporal lobe epilepsy. The focus of the paper is on content-based image management, navigation and retrieval. Several medical image-processing methods including our newly developed segmentation method are utilized for information extraction/correlation and indexing. The input data includes T1-, T2-Weighted MRI and FLAIR MRI and ictal and interictal SPECT modalities with associated clinical data and EEG data analysis. The database can answer queries regarding issues such as the correlation between the attribute X of the entity Y and the outcome of a temporal lobe epilepsy surgery. The entity Y can be a brain anatomical structure such as the hippocampus. The attribute X can be either a functionality feature of the anatomical structure Y, calculated with SPECT modalities, such as signal average, or a volumetric/morphological feature of the entity Y such as volume or average curvature. The outcome of the surgery can be any surgery assessment such as memory quotient. A determination is made regarding surgical candidacy by analysis of both textual and image data. The current database system suggests a surgical determination for the cases with relatively small hippocampus and high signal intensity average on FLAIR images within the hippocampus. This indication pretty much fits with the surgeons" expectations/observations. Moreover, as the database gets more populated with patient profiles and individual surgical outcomes, using data mining methods one may discover partially invisible correlations between the contents of different modalities of data and the outcome of the surgery.

  16. Reduced mature microRNA levels in association with dicer loss in human temporal lobe epilepsy with hippocampal sclerosis.

    Directory of Open Access Journals (Sweden)

    Ross C McKiernan

    Full Text Available Hippocampal sclerosis (HS is a common pathological finding in patients with temporal lobe epilepsy (TLE and is associated with altered expression of genes controlling neuronal excitability, glial function, neuroinflammation and cell death. MicroRNAs (miRNAs, a class of small non-coding RNAs, function as post-transcriptional regulators of gene expression and are critical for normal brain development and function. Production of mature miRNAs requires Dicer, an RNAase III, loss of which has been shown to cause neuronal and glial dysfunction, seizures, and neurodegeneration. Here we investigated miRNA biogenesis in hippocampal and neocortical resection specimens from pharmacoresistant TLE patients and autopsy controls. Western blot analysis revealed protein levels of Dicer were significantly lower in certain TLE patients with HS. Dicer levels were also reduced in the hippocampus of mice subject to experimentally-induced epilepsy. To determine if Dicer loss was associated with altered miRNA processing, we profiled levels of 380 mature miRNAs in control and TLE-HS samples. Expression of nearly 200 miRNAs was detected in control human hippocampus. In TLE-HS samples there was a large-scale reduction of miRNA expression, with 51% expressed at lower levels and a further 24% not detectable. Primary transcript (pri-miRNAs expression levels for several tested miRNAs were not different between control and TLE-HS samples. These findings suggest loss of Dicer and failure of mature miRNA expression may be a feature of the pathophysiology of HS in patients with TLE.

  17. Cursive and gelastic epilepsy: probable sequelae of physical abuse

    Science.gov (United States)

    Woon, T. H.; Vignaendra, V.

    1978-01-01

    An abandoned 8-year-old male child, who was subjected to physical abuse, presented with abnormal behaviour and focal seizures. The focal seizures included involuntary running attacks (epilepsia cursiva) and uncontrollable laughter (gelastic epilepsy). The occurrence of cursive and gelastic seizures in the same patient is extremely rare. These fits were probably a late sequel of head trauma.

  18. Duchenne muscular dystrophy and epilepsy.

    Science.gov (United States)

    Pane, M; Messina, S; Bruno, C; D'Amico, A; Villanova, M; Brancalion, B; Sivo, S; Bianco, F; Striano, P; Battaglia, D; Lettori, D; Vita, G L; Bertini, E; Gualandi, F; Ricotti, V; Ferlini, A; Mercuri, E

    2013-04-01

    Cognitive and behavioral difficulties occur in approximately a third of patients with Duchenne muscular dystrophy. The aim of our study was to assess the prevalence of epilepsy in a cohort of 222 DMD patients. Epileptic seizures were found in 14 of the 222 DMD patients (6.3%). The age of onset ranged from 3 months to 16 years (mean 7.8). Seizures were more often focal epilepsy (n=6), generalized tonic-clonic seizures (n=4) or absences (n=4). They were present in 12 of the 149 boys with normal IQ (8.1%) and in two of the 73 with mental retardation (2.7%). In two cases the parents did not report any past or present history of seizures but only 'staring episodes' interpreted as a sign of 'poor attention'. In both patients EEG showed the typical pattern observed in childhood absence epilepsy. Our results suggest that the prevalence of epilepsy in our study (6.3%) is higher than in the general pediatric population (0.5-1%). The risk of epilepsy does not appear to increase in patients with mental retardation.

  19. Temporal lobe epilepsy causes selective changes in mu opioid and nociceptin receptor binding and functional coupling to G-proteins in human temporal neocortex.

    Science.gov (United States)

    Rocha, Luisa; Orozco-Suarez, Sandra; Alonso-Vanegas, Mario; Villeda-Hernandez, Juana; Gaona, Andres; Páldy, Eszter; Benyhe, Sandor; Borsodi, Anna

    2009-09-01

    There is no information concerning signal transduction mechanisms downstream of the opioid/nociceptin receptors in the human epileptic brain. The aim of this work was to evaluate the level of G-proteins activation mediated by DAMGO (a mu receptor selective peptide) and nociceptin, and the binding to mu and nociceptin (NOP) receptors and adenylyl cyclase (AC) in neocortex of patients with pharmacoresistant temporal lobe epilepsy. Patients with temporal lobe epilepsy associated with mesial sclerosis (MTLE) or secondary to tumor or vascular lesion showed enhanced [3H]DAMGO and [3H]forskolin binding, lower DAMGO-stimulated [35S]GTPgammaS binding and no significant changes in nociceptin-stimulated G-protein. [3H]Nociceptin binding was lower in patients with MTLE. Age of seizure onset correlated positively with [3H]DAMGO binding and DAMGO-stimulated [35S]GTPgammaS binding, whereas epilepsy duration correlated negatively with [3H]DAMGO and [3H]nociceptin binding, and positively with [3H]forskolin binding. In conclusion, our present data obtained from neocortex of epileptic patients provide strong evidence that a) temporal lobe epilepsy is associated with alterations in mu opioid and NOP receptor binding and signal transduction mechanisms downstream of these receptors, and b) clinical aspects may play an important role on these receptor changes.

  20. Antigens and antibodies in sera from human cases of epilepsy or taeniasis from an area of Mexico where Taenia solium cysticercosis is endemic.

    Science.gov (United States)

    Correa, D; Sarti, E; Tapia-Romero, R; Rico, R; Alcántara-Anguiano, I; Salgado, A; Valdez, L; Flisser, A

    1999-01-01

    Human neurocysticercosis is an important parasitic disease in developing countries. Most epidemiological studies on the disease have used antibody-based assays that allow the detection of transmission 'hot spots' and the identification of the main risk factors for transmission. However, such assays have low predictive value in the detection of active cases of neurocysticercosis. The screening potential of the most commonly used antibody-detection technique, the electroimmunotransfer blot assay (EITB), has now been compared with an antigen-capture assay, in an endemic region of Mexico. The subjects were 68 patients with late-onset epilepsy, 35 cases of taeniasis and a randomly selected, control group of 133 individuals from the same region. Parasite-specific antibodies and antigens were more common among the epileptics and taeniasis cases than among the controls. The antigens appeared to be associated with late-onset epilepsy and the antibodies with the presence of subcutaneous nodules. The sensitivities of both tests, to detect epilepsy or taeniasis, were low, but the specificity and the positive predictive value of the antigen-capture assay was high when used with the epileptics. As late-onset epilepsy and neurocysticercosis seem to be associated in endemic regions, antigen-capture assays are probably the most reliable method of detecting active cases of neurocysticercosis in epidemiological studies.

  1. Seroprevalence and risk factors of human cysticercosis and taeniasis prevalence in a highly endemic area of epilepsy in Bangoua, west Cameroon.

    Science.gov (United States)

    Nkouawa, Agathe; Dschanou, Armel Romeo; Moyou-Somo, Roger; Sako, Yasuhito; Ito, Akira

    2017-01-01

    Cysticercosis caused by the larvae of Taenia solium is a serious and emerging threat to public health in the endemic areas as well as in the non-endemic areas. Neurocysticercosis, an affection of the central nervous system is a leading cause of epilepsy in endemic areas. This study was carried out to investigate human cysticercosis, taeniasis and risk factors, and also their association with epilepsy in Bangoua, west Cameroon where epilepsy is highly prevalent. Out of 384 people investigated, 12 (3.1%) exhibited antibody response against low molecular weight antigens of T. solium by ELISA. Immunoblot revealed that six persons (1.6%) were seropositive with the same antigens. Among 61 epileptic patients, only one was seropositive by immunoblot and the study did not find any statistically significant difference (P>0.05) in seropositivity to T. solium between epileptic persons (1/61, 1.6%) and non-epileptic group (5/323, 1.5%). In addition, cysticercosis was associated with households eating pork meat from pigs slaughtered at home, but not with other factors. The risk factors including pig farming, the consumption of pork meat, vegetables, and non-drinkable water were attenuated by the relatively good hygiene and pig husbandry practices of the population. No egg of Taenia was found in stool by microscopic examination. All data obtained in this study suggested that cysticercosis might not be the principal causative agent of epilepsy in this area.

  2. Reduced Language Connectivity in Pediatric Epilepsy

    Science.gov (United States)

    Leigh N., Sepeta; Louise J., Croft; Lauren A., Zimmaro; Elizabeth S., Duke; Virginia K., Terwilliger; Benjamin E., Yerys; Xiaozhen., You; Chandan J., Vaidya; William D., Gaillard; Madison M., Berl

    2014-01-01

    Objective Functional connectivity (FC) among language regions is decreased in adults with epilepsy compared to controls, but less is known about FC in children with epilepsy. We sought to determine if language FC is reduced in pediatric epilepsy, and examined clinical factors that associate with language FC in this population. Methods We assessed FC during an age-adjusted language task in children with left-hemisphere focal epilepsy (n=19) compared to controls (n=19). Time series data were extracted for three left ROIs and their right homologues: inferior frontal gyrus (IFG), middle frontal gyrus (MFG), and Wernicke's area (WA) using SPM8. Associations between FC and factors such as cognitive performance, language dominance, and epilepsy duration were assessed. Results Children with epilepsy showed decreased interhemispheric connectivity compared to controls, particularly between core left language regions (IFG, WA) and their right hemisphere homologues, as well as decreased intrahemispheric right frontal FC. Increased intrahemispheric FC between left IFG and left WA was a positive predictor of language skills overall, and naming ability in particular. FC of language areas was not affected by language dominance, as the effects remained when only examining study participants with left language dominance. Overall FC did not differ according to duration of epilepsy or age of onset. Significance FC during a language task is reduced in children, similar to findings in adults. In specific, children with left focal epilepsy demonstrated decreased interhemispheric FC in temporal and frontal language connections and decreased intrahemispheric right frontal FC. These differences were present near the onset of epilepsy. Greater FC between left language centers is related to better language ability. Our results highlight that connectivity of language areas has a developmental pattern and is related to cognitive ability. PMID:25516399

  3. Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France.

    Science.gov (United States)

    Chipaux, Mathilde; Szurhaj, William; Vercueil, Laurent; Milh, Mathieu; Villeneuve, Nathalie; Cances, Claude; Auvin, Stéphane; Chassagnon, Serge; Napuri, Sylvia; Allaire, Catherine; Derambure, Philippe; Marchal, Cécile; Caubel, Isabelle; Ricard-Mousnier, Brigitte; N'Guyen The Tich, Sylvie; Pinard, Jean-Marc; Bahi-Buisson, Nadia; de Baracé, Claire; Kahane, Philippe; Gautier, Agnès; Hamelin, Sophie; Coste-Zeitoun, Delphine; Rosenberg, Sarah-Dominique; Clerson, Pierre; Nabbout, Rima; Kuchenbuch, Mathieu; Picot, Marie-Christine; Kaminska, Anna

    2016-05-01

    To obtain perspective on epilepsy in patients referred to tertiary centers in France, and describe etiology, epilepsy syndromes, and identify factors of drug resistance and comorbidities. We performed a cross-sectional analysis of the characteristics of 5,794 pediatric and adult patients with epilepsy included in a collaborative database in France between 2007 and 2013. Comparisons between groups used Student's t-test or Fisher's exact test for binary or categorical variables. Factors associated with drug resistance and intellectual disability were evaluated in multi-adjusted logistic regression models. Mean age at inclusion was 17.9 years; children accounted for 67%. Epilepsy was unclassified in 20% of patients, and etiology was unknown in 65%, including those with idiopathic epilepsies. Etiologies differed significantly in adult- when compared to pediatric-onset epilepsy; however, among focal structural epilepsies, mesial temporal lobe epilepsy with hippocampal sclerosis began as often in the pediatric as in adult age range. Drug resistance concerned 53% of 4,210 patients evaluable for seizure control and was highest in progressive myoclonic epilepsy (89%), metabolic diseases (84%), focal cortical dysplasia (70%), other cortical malformations (69%), and mesial temporal lobe epilepsy with hippocampal sclerosis (67%). Fifty-nine percent of patients with focal structural epilepsy and 69% with epileptic encephalopathies were drug resistant; however, 40-50% of patients with West syndrome and epileptic encephalopathy with continuous spike-and-waves during sleep were seizure-free. Ages at onset in infancy and in young adults shared the highest risk of drug resistance. Epilepsy onset in infancy comprised the highest risk of intellectual disability, whereas specific cognitive impairment affected 36% of children with idiopathic focal epilepsy. Our study provides a snapshot on epilepsy in patients referred to tertiary centers and discloses needs for diagnosis and treatment

  4. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.

    Science.gov (United States)

    Almalki, Abdulraheem; Alston, Charlotte L; Parker, Alasdair; Simonic, Ingrid; Mehta, Sarju G; He, Langping; Reza, Mojgan; Oliveira, Jorge M A; Lightowlers, Robert N; McFarland, Robert; Taylor, Robert W; Chrzanowska-Lightowlers, Zofia M A

    2014-01-01

    Mitochondrial aminoacyl-tRNA synthetases (aaRSs) are essential enzymes in protein synthesis since they charge tRNAs with their cognate amino acids. Mutations in the genes encoding mitochondrial aaRSs have been associated with a wide spectrum of human mitochondrial diseases. Here we report the identification of pathogenic mutations (a partial genomic deletion and a highly conserved p. Asp325Tyr missense variant) in FARS2, the gene encoding mitochondrial phenylalanyl-tRNA synthetase, in a patient with early-onset epilepsy and isolated complex IV deficiency in muscle. The biochemical defect was expressed in myoblasts but not in fibroblasts and associated with decreased steady state levels of COXI and COXII protein and reduced steady state levels of the mt-tRNA(Phe) transcript. Functional analysis of the recombinant mutant p. Asp325Tyr FARS2 protein showed an inability to bind ATP and consequently undetectable aminoacylation activity using either bacterial tRNA or human mt-tRNA(Phe) as substrates. Lentiviral transduction of cells with wildtype FARS2 restored complex IV protein levels, confirming that the p.Asp325Tyr mutation is pathogenic, causing respiratory chain deficiency and neurological deficits on account of defective aminoacylation of mt-tRNA(Phe).

  5. Incidence of functional bi-temporal connections in the human brain in vivo and their relevance to epilepsy surgery.

    Science.gov (United States)

    Jiménez-Jiménez, Diego; Abete-Rivas, Margely; Martín-López, David; Lacruz, María Elena; Selway, Richard P; Valentín, Antonio; Alarcón, Gonzalo

    2015-04-01

    The incidence of functional connections between human temporal lobes and their latencies were investigated using intracranial EEG responses to electrical stimulation with 1 msec single pulses in 91 patients assessed for surgery for treatment of epilepsy. The areas studied were amygdala, hippocampus, parahippocampal gyrus, fusiform gyrus, inferior and mid temporal gyrus. Furthermore, we assessed whether the presence of such connections are related to seizure onset extent and postsurgical seizure control. Responses were seen in any region of the contralateral temporal lobe when stimulating temporal regions in 30 patients out of the 91 (32.96%). Bi-hippocampal or bi-amygdalar projections were seen in only 5% of temporal lobes (N = 60) and between both fusiform gyri in 7.1% (N = 126). All other bilateral connections occurred in less than 5% of hemispheres. Depending on the structures, latencies ranged between 20 and 90 msec, with an average value of 60.2 msec. There were no statistical difference in the proportion of patients showing Engel Class I between patients with and without contralateral temporal connections. No difference was found in the proportion of patients showing bilateral or unilateral seizure onset among patients with and without contralateral temporal projections. The present findings corroborate that the functionality of bilateral temporal connections in humans is limited and does not affect the surgical outcome.

  6. International Veterinary Epilepsy Task Force consensus report on epilepsy definition, classification and terminology in companion animals

    DEFF Research Database (Denmark)

    Berendt, Mette; Farquhar, Robyn G; Mandigers, Paul J J

    2015-01-01

    Dogs with epilepsy are among the commonest neurological patients in veterinary practice and therefore have historically attracted much attention with regard to definitions, clinical approach and management. A number of classification proposals for canine epilepsy have been published during...... the years reflecting always in parts the current proposals coming from the human epilepsy organisation the International League Against Epilepsy (ILAE). It has however not been possible to gain agreed consensus, "a common language", for the classification and terminology used between veterinary and human...... to the readers and influence the definition and diagnosis of epilepsy in first line practice and research studies.In this document the International Veterinary Epilepsy Task Force (IVETF) discusses current understanding of canine epilepsy and presents our 2015 proposal for terminology and classification...

  7. A knock-in model of human epilepsy in Drosophila reveals a novel cellular mechanism associated with heat-induced seizure.

    Science.gov (United States)

    Sun, Lei; Gilligan, Jeff; Staber, Cynthia; Schutte, Ryan J; Nguyen, Vivian; O'Dowd, Diane K; Reenan, Robert

    2012-10-10

    Over 40 missense mutations in the human SCN1A sodium channel gene are linked to an epilepsy syndrome termed genetic epilepsy with febrile seizures plus (GEFS+). Inheritance of GEFS+ is dominant, but the underlying cellular mechanisms remain poorly understood. Here we report that knock-in of a GEFS+ SCN1A mutation (K1270T) into the Drosophila sodium channel gene, para, causes a semidominant temperature-induced seizure phenotype. Electrophysiological studies of GABAergic interneurons in the brains of adult GEFS+ flies reveal a novel cellular mechanism underlying heat-induced seizures: the deactivation threshold for persistent sodium currents reversibly shifts to a more negative voltage when the temperature is elevated. This leads to sustained depolarizations in GABAergic neurons and reduced inhibitory activity in the central nervous system. Furthermore, our data indicate a natural temperature-dependent shift in sodium current deactivation (exacerbated by mutation) may contribute to febrile seizures in GEFS+ and perhaps normal individuals.

  8. Vagus nerve stimulation for generalized epilepsy with febrile seizures plus (GEFS+ accompanying seizures with impaired consciousness

    Directory of Open Access Journals (Sweden)

    Ryosuke Hanaya

    2017-01-01

    Full Text Available Generalized epilepsy with febrile seizures plus (GEFS+ is characterized by childhood-onset epilepsy syndrome. It involves febrile seizures and a variety of afebrile epileptic seizure types within the same pedigree with autosomal-dominant inheritance. Approximately 10% of individuals with GEFS+ harbor SCN1A, a gene mutation in one of the voltage-gated sodium channel subunits. Considerably less common are focal epilepsies including focal seizures with impaired consciousness. We report vagus nerve stimulation (VNS in a 6-year-old girl with GEFS+ who exhibited drug-resistant generalized tonic-clonic seizures and focal seizures with impaired consciousness.

  9. Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

    DEFF Research Database (Denmark)

    Møller, Rikke S; Larsen, Line H G; Johannesen, Katrine M

    2016-01-01

    -causing variant in 49 (23%) of the 216 patients. The variants were found in 19 different genes including SCN1A, STXBP1, CDKL5, SCN2A, SCN8A, GABRA1, KCNA2, and STX1B. Patients with neonatal-onset epilepsies had the highest rate of positive findings (57%). The overall yield for patients with EEs was 32%, compared...... to 17% among patients with generalized epilepsies and 16% in patients with focal or multifocal epilepsies. By the use of a gene panel consisting of 46 epilepsy genes, we were able to find a disease-causing genetic variation in 23% of the analyzed patients. The highest yield was found among patients......In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and genetic heterogeneity has been observed in many monogenic epilepsies. This study aimed to analyze the genetic basis...

  10. Paraneoplastic epilepsy.

    Science.gov (United States)

    Serafini, Anna; Lukas, Rimas V; VanHaerents, Stephen; Warnke, Peter; Tao, James X; Rose, Sandra; Wu, Shasha

    2016-08-01

    Epilepsy can be a manifestation of paraneoplastic syndromes which are the consequence of an immune reaction to neuronal elements driven by an underlying malignancy affecting other organs and tissues. The antibodies commonly found in paraneoplastic encephalitis can be divided into two main groups depending on the target antigen: 1) antibodies against neuronal cell surface antigens, such as against neurotransmitter (N-methyl-d-aspartate (NMDA), alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA), gamma-aminobutyric acid (GABA)) receptors, ion channels (voltage-gated potassium channel (VGKC)), and channel-complex proteins (leucine rich, glioma inactivated-1 glycoprotein (LGI1) and contactin-associated protein-2 (CASPR2)) and 2) antibodies against intracellular neuronal antigens (Hu/antineuronal nuclear antibody-1 (ANNA-1), Ma2/Ta, glutamate decarboxylase 65 (GAD65), less frequently to CV2/collapsin response mediator protein 5 (CRMP5)). In this review, we provide a comprehensive survey of the current literature on paraneoplastic epilepsy indexed by the associated onconeuronal antibodies. While a range of seizure types can be seen with paraneoplastic syndromes, temporal lobe epilepsy is the most common because of the association with limbic encephalitis. Early treatment of the paraneoplastic syndrome with immune modulation/suppression may prevent the more serious potential consequences of paraneoplastic epilepsy.

  11. Adult absence semiology misinterpreted as mesial temporal lobe epilepsy.

    Science.gov (United States)

    Hurst, Rebecca; Chiota-McCollum, Nicole; Tatum, William

    2014-12-01

    Correct diagnosis of seizure type and epilepsy syndrome is the foundation for appropriate antiepileptic drug selection. Inappropriate medication choices occur in the treatment of generalized epilepsy and may aggravate some seizure types, including absence seizures, potentially leading to pseudo-drug resistance. Fortunately, a correct diagnosis of absence seizures is usually not difficult, though rarely demonstrates electroclinical overlap with focal seizures. EEG can be especially misleading when secondary bilateral synchronous discharges occur in patients with focal seizures. However, the semiology of focal seizures associated with mesial temporal lobe epilepsy has a characteristic and consistent semiology that is the mark of this common epilepsy syndrome in adulthood. We recently encountered a 53-year-old female with refractory seizures and a semiology strongly suggesting mesial temporal lobe epilepsy. Instead of focal seizures, prolonged absence seizures were validated by video-EEG monitoring and she became seizure-free after a change to broad-spectrum antiepileptic drugs. This case further expands our understanding of the complexity of semiology in electroclinical classification and the spectrum that may occur in adult absence seizures. It serves to underscore the need for ictal EEG recordings and the importance of concordance with the clinical course during the pre-surgical evaluation of patients with lesions and drug-resistant epilepsy. [Published with video sequences].

  12. Phytocannabinoids and epilepsy.

    Science.gov (United States)

    dos Santos, R G; Hallak, J E C; Leite, J P; Zuardi, A W; Crippa, J A S

    2015-04-01

    Antiepileptic drugs often produce serious adverse effects, and many patients do not respond to them properly. Phytocannabinoids produce anticonvulsant effects in preclinical and preliminary human studies, and appear to produce fewer adverse effects than available antiepileptic drugs. The present review summarizes studies on the anticonvulsant properties of phytocannabinoids. Literature search using the PubMed database to identify studies on phytocannabinoids and epilepsy. Preclinical studies suggest that phytocannabinoids, especially cannabidiol and cannabidivarin, have potent anticonvulsant effects which are mediated by the endocannabinoid system. Human studies are limited in number and quality, but suggest that cannabidiol has anticonvulsant effects in adult and infantile epilepsy and is well tolerated after prolonged administration. Phytocannabinoids produce anticonvulsant effects through the endocannabinoid system, with few adverse effects. Cannabidiol and cannabidivarin should be tested in randomized, controlled clinical trials, especially in infantile epileptic syndromes. © 2014 John Wiley & Sons Ltd.

  13. Natural evolution from idiopathic photosensitive occipital lobe epilepsy to idiopathic generalized epilepsy in an untreated young patient.

    Science.gov (United States)

    Bonini, Francesca; Egeo, Gabriella; Fattouch, Jinan; Fanella, Martina; Morano, Alessandra; Giallonardo, Anna Teresa; di Bonaventura, Carlo

    2014-04-01

    Idiopathic photosensitive occipital lobe epilepsy (IPOE) is an idiopathic localization-related epilepsy characterized by age-related onset, specific mode of precipitation, occipital photic-induced seizures--frequently consisting of visual symptoms--and good prognosis. This uncommon epilepsy, which usually starts in childhood or adolescence, has rarely been observed in families in which idiopathic generalized epilepsy also affects other members. We describe a nuclear family in which the proband showed electro-clinical features of idiopathic photosensitive occipital lobe epilepsy in childhood, which subsequently evolved into absences and a single generalized tonico-clonic seizure in early adolescence. His mother had features suggestive of juvenile myoclonic epilepsy. This case illustrates a continuum between focal and generalized entities in the spectrum of the so-called idiopathic (genetically determined) epileptic syndromes. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  14. Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.

    Science.gov (United States)

    Ling, Jiqiang; Roy, Hervé; Qin, Daoming; Rubio, Mary Anne T; Alfonzo, Juan D; Fredrick, Kurt; Ibba, Michael

    2007-09-25

    Human mitochondrial tRNA (hmt-tRNA) mutations are associated with a variety of diseases including mitochondrial myopathies, diabetes, encephalopathies, and deafness. Because the current understanding of the precise molecular mechanisms of these mutations is limited, there is no efficient method to treat their associated mitochondrial diseases. Here, we use a variety of known mutations in hmt-tRNA(Phe) to investigate the mechanisms that lead to malfunctions. We tested the impact of hmt-tRNA(Phe) mutations on aminoacylation, structure, and translation elongation-factor binding. The majority of the mutants were pleiotropic, exhibiting defects in aminoacylation, global structure, and elongation-factor binding. One notable exception was the G34A anticodon mutation of hmt-tRNA(Phe) (mitochondrial DNA mutation G611A), which is associated with MERRF (myoclonic epilepsy with ragged red fibers). In vitro, the G34A mutation decreases aminoacylation activity by 100-fold, but does not affect global folding or recognition by elongation factor. Furthermore, G34A hmt-tRNA(Phe) does not undergo adenosine-to-inosine (A-to-I) editing, ruling out miscoding as a possible mechanism for mitochondrial malfunction. To improve the aminoacylation state of the mutant tRNA, we modified the tRNA binding domain of the nucleus-encoded human mitochondrial phenylalanyl-tRNA synthetase, which aminoacylates hmt-tRNA(Phe) with cognate phenylalanine. This variant enzyme displayed significantly improved aminoacylation efficiency for the G34A mutant, suggesting a general strategy to treat certain classes of mitochondrial diseases by modification of the corresponding nuclear gene.

  15. Osthole Suppresses the Migratory Ability of Human Glioblastoma Multiforme Cells via Inhibition of Focal Adhesion Kinase-Mediated Matrix Metalloproteinase-13 Expression

    Directory of Open Access Journals (Sweden)

    Cheng-Fang Tsai

    2014-03-01

    Full Text Available Glioblastoma multiforme (GBM is the most common type of primary and malignant tumor occurring in the adult central nervous system. GBM often invades surrounding regions of the brain during its early stages, making successful treatment difficult. Osthole, an active constituent isolated from the dried C. monnieri fruit, has been shown to suppress tumor migration and invasion. However, the effects of osthole in human GBM are largely unknown. Focal adhesion kinase (FAK is important for the metastasis of cancer cells. Results from this study show that osthole can not only induce cell death but also inhibit phosphorylation of FAK in human GBM cells. Results from this study show that incubating GBM cells with osthole reduces matrix metalloproteinase (MMP-13 expression and cell motility, as assessed by cell transwell and wound healing assays. This study also provides evidence supporting the potential of osthole in reducing FAK activation, MMP-13 expression, and cell motility in human GBM cells.

  16. Febrile seizures and genetic epilepsy with febrile seizures plus (GEFS+).

    Science.gov (United States)

    Camfield, Peter; Camfield, Carol

    2015-06-01

    To review the literature about febrile seizures and GEFS plus with special emphasis on management and outcome. Selected literature review. Febrile seizures are the most common convulsive event in humans, occurring in 2-6% of the population. The aetiology is complex with strong evidence for a heterogeneous genetic predisposition interacting with fever of any cause, with certain viral infections having a greater effect. A large amount of literature has established that febrile seizures have no long-term consequences on cognition or behaviour. Unfortunately, about 40% of children with a first febrile seizure will have a recurrence. The strongest predictor of recurrence is age febrile seizure. Epilepsy follows febrile seizures in ∼3% cases, with the concepts of simple and complex febrile seizures providing relatively weak prediction. Very prolonged febrile seizures may lead to mesial temporal sclerosis and temporal lobe epilepsy although the degree of risk remains uncertain. Investigations beyond establishing the cause of the provoking fever are nearly always unnecessary. Treatment is mainly reassurance and there is some evidence that parents eventually "come to grips" with the fear that their children are dying during a febrile seizure. Antipyretic medications are remarkably ineffective to prevent recurrences. Daily and intermittent prophylactic medications are ineffective or have unacceptable side effects or risks. "Rescue" benzodiazepines may prevent prolonged recurrences for selected patients with a first prolonged febrile seizure although this has not been proven. Genetic epilepsy with febrile seizures plus (GEFS+) is a complex autosomal dominant disorder usually caused by mutations in SCN1A (a voltage-gated sodium channel). One third of patients have febrile seizures only; two thirds have a variety of epilepsy syndromes, both focal and generalized. Febrile seizures may distress parents but rarely have any long-term consequences. Reassurance is the only

  17. American Epilepsy Society

    Science.gov (United States)

    ... View the poster schedule and more information here . Epilepsy Currents Generic Substitution of AEDs: Is it Time ... provides seizure protection in genetic epilepsy models More Epilepsy Professional News AES Releases New Guildeline for Treatment ...

  18. Temporal Lobe Epilepsy in Children

    Science.gov (United States)

    Nickels, Katherine C.; Wong-Kisiel, Lily C.; Moseley, Brian D.; Wirrell, Elaine C.

    2012-01-01

    The temporal lobe is a common focus for epilepsy. Temporal lobe epilepsy in infants and children differs from the relatively homogeneous syndrome seen in adults in several important clinical and pathological ways. Seizure semiology varies by age, and the ictal EEG pattern may be less clear cut than what is seen in adults. Additionally, the occurrence of intractable seizures in the developing brain may impact neurocognitive function remote from the temporal area. While many children will respond favorably to medical therapy, those with focal imaging abnormalities including cortical dysplasia, hippocampal sclerosis, or low-grade tumors are likely to be intractable. Expedient workup and surgical intervention in these medically intractable cases are needed to maximize long-term developmental outcome. PMID:22957247

  19. Temporal Lobe Epilepsy in Children

    Directory of Open Access Journals (Sweden)

    Katherine C. Nickels

    2012-01-01

    Full Text Available The temporal lobe is a common focus for epilepsy. Temporal lobe epilepsy in infants and children differs from the relatively homogeneous syndrome seen in adults in several important clinical and pathological ways. Seizure semiology varies by age, and the ictal EEG pattern may be less clear cut than what is seen in adults. Additionally, the occurrence of intractable seizures in the developing brain may impact neurocognitive function remote from the temporal area. While many children will respond favorably to medical therapy, those with focal imaging abnormalities including cortical dysplasia, hippocampal sclerosis, or low-grade tumors are likely to be intractable. Expedient workup and surgical intervention in these medically intractable cases are needed to maximize long-term developmental outcome.

  20. Epilepsy Genetics—Past, Present, and Future

    Science.gov (United States)

    Poduri, Annapurna; Lowenstein, Daniel

    2014-01-01

    Human epilepsy is a common and heterogeneous condition in which genetics play an important etiological role. We begin by reviewing the past history of epilepsy genetics, a field that has traditionally included studies of pedigrees with epilepsy caused by defects in ion channels and neurotransmitters. We highlight important recent discoveries that have expanded the field beyond the realm of channels and neurotransmitters and that have challenged the notion that single genes produce single disorders. Finally, we project toward an exciting future for epilepsy genetics as large-scale collaborative phenotyping studies come face to face with new technologies in genomic medicine. PMID:21277190

  1. Valproate in the treatment of epilepsy in girls and women of childbearing potential.

    Science.gov (United States)

    Tomson, Torbjörn; Marson, Anthony; Boon, Paul; Canevini, Maria Paola; Covanis, Athanasios; Gaily, Eija; Kälviäinen, Reetta; Trinka, Eugen

    2015-07-01

    This document provides guidance on the use of valproate in girls and women of childbearing age from a joint Task Force of the Commission on European Affairs of the International League Against Epilepsy (CEA-ILAE) and the European Academy of Neurology (EAN), following strengthened warnings from the Coordination Group for Mutual Recognition and Decentralised Procedures-Human (CMDh) of the European Medicines Agency (EMA), which highlight the risk of malformations and developmental problems in infants who are exposed to valproate in the womb. To produce these recommendations, the Task Force has considered teratogenic risks associated with use of valproate and treatment alternatives, the importance of seizure control and of patient and fetal risks with seizures, and the effectiveness of valproate and treatment alternatives in the treatment of different epilepsies. The Task Force's recommendations include the following: (1) Where possible, valproate should be avoided in women of childbearing potential. (2) The choice of treatment for girls and women of childbearing potential should be based on a shared decision between clinician and patient, and where appropriate, the patient's representatives. Discussions should include a careful risk-benefit assessment of reasonable treatment options for the patient's seizure or epilepsy type. (3) For seizure (or epilepsy) types where valproate is the most effective treatment, the risks and benefits of valproate and other treatment alternatives should be discussed. (4) Valproate should not be prescribed as a first-line treatment for focal epilepsy. (5) Valproate may be offered as a first-line treatment for epilepsy syndromes where it is the most effective treatment, including idiopathic (genetic) generalized syndromes associated with tonic-clonic seizures. (6) Valproate may be offered as a first-line treatment in situations where pregnancy is highly unlikely (e.g., significant intellectual or physical disability). (7) Women and girls

  2. Electrical storm in the brain and in the heart: epilepsy and Brugada syndrome.

    Science.gov (United States)

    Sandorfi, Gabor; Clemens, Bela; Csanadi, Zoltan

    2013-10-01

    We describe a patient with the coincidence of 2 ion channel disorders with autosomal dominant inheritance: Brugada syndrome, a potentially fatal cardiac condition, and cryptogenic focal epilepsy, likely due to a neurologic channelopathy. Although Brugada syndrome was discovered incidentally, most of the clinical features of epilepsy in this patient shared the risk factor characteristics of sudden unexplained death in epilepsy syndrome. This case provides additional information on the potential interaction between ion channel abnormalities in the heart and in the brain. Furthermore, it may suggest that patients with epilepsy at increased risk for sudden unexplained death in epilepsy syndrome should undergo a careful cardiac evaluation.

  3. Prevalence of epilepsy in rural Kansas.

    Science.gov (United States)

    Ablah, Elizabeth; Hesdorffer, Dale C; Liu, Yi; Paschal, Angelia M; Hawley, Suzanne; Thurman, David; Hauser, W Allen

    2014-05-01

    To determine the prevalence of active epilepsy in two southeastern rural Kansas counties. Medical records were abstracted from the emergency rooms, out- and inpatient services and clinics of 9 hospitals, from 10 doctors' offices, and 1 nursing home in and surrounding the two counties. Letters were mailed from hospitals and doctors' offices to invite their potentially eligible patients to participate in an interview. Medical record information and the interview, when available, were used for the final determination of active epilepsy, seizure type, etiology, syndrome, age, and gender in consensus conferences. Prevalence of epilepsy was calculated, and capture-recapture methodology, which estimates prevalence based on what is known about the population, was employed to assess active epilepsy in the two counties. This study identified 404 individuals with active prevalent epilepsy who visited at least one of the 20 facilities during the observation period. The overall prevalence of active epilepsy was 7.2 per 1000. The seizure type for 71.3% of prevalent cases was unknown; among the 76 cases with known and classifiable seizure type, 55.3% had focal with secondary generalized seizures. Among the 222 cases with classifiable etiology, 53.1% were idiopathic/cryptogenic. About 75% (n=301) were captured at only one center, 72% (n=75) of the remaining 103 patients were captured at two centers, and 28 patients were identified at three or more centers. The capture-recapture assessment yielded an estimation of 982 prevalent patients. The overall estimated prevalence of epilepsy in the two Kansas counties using capture-recapture was 17 per 1000. The crude prevalence of epilepsy, using medical record survey methods, was similar to, but on the high end, of other total population prevalence studies in the United States. The capture-recapture assessment suggested that epilepsy prevalence might be considerably higher than the crude prevalence. Copyright © 2014 Elsevier B.V. All

  4. Division of focal plane polarimeter-based 3 × 4 Mueller matrix microscope: a potential tool for quick diagnosis of human carcinoma tissues

    Science.gov (United States)

    Chang, Jintao; He, Honghui; Wang, Ye; Huang, Yi; Li, Xianpeng; He, Chao; Liao, Ran; Zeng, Nan; Liu, Shaoxiong; Ma, Hui

    2016-05-01

    A polarization microscope is a useful tool to reveal the optical anisotropic nature of a specimen and can provide abundant microstructural information about samples. We present a division of focal plane (DoFP) polarimeter-based polarization microscope capable of simultaneously measuring both the Stokes vector and the 3×4 Mueller matrix with an optimal polarization illumination scheme. The Mueller matrix images of unstained human carcinoma tissue slices show that the m24 and m34 elements can provide important information for pathological observations. The characteristic features of the m24 and m34 elements can be enhanced by polarization staining under illumination by a circularly polarized light. Hence, combined with a graphics processing unit acceleration algorithm, the DoFP polarization microscope is capable of real-time polarization imaging for potential quick clinical diagnoses of both standard and frozen slices of human carcinoma tissues.

  5. Research implications of the Institute of Medicine Report, Epilepsy Across the Spectrum: Promoting Health and Understanding

    Science.gov (United States)

    Hesdorffer, Dale C.; Beck, Vicki; Begley, Charles E.; Bishop, Malachy L.; Cushner-Weinstein, Sandra; Holmes, Gregory L.; Shafer, Patricia O.; Sirven, Joseph I.; Austin, Joan K.

    2012-01-01

    In March 2012 the Institute of Medicine (IOM) released the report, Epilepsy Across The Spectrum: Promoting Health And Understanding. This report examined the public health dimensions of the epilepsies with a focus on four areas: public health surveillance and data collection and integration; population and public health research; health policy, health care, and human services; and education for providers, people with epilepsy and their families, and the public. The report provided recommendations and research priorities for future work in the field of epilepsy that relate to: increasing the power of data on epilepsy; prevention of epilepsy; improving health care for people with epilepsy; improving health professional education about epilepsy; improving quality of life for people with epilepsy; improving education about epilepsy for people with epilepsy and families; and raising public awareness about epilepsy. For this article, the authors selected one research priority from each of the major chapter themes in the IOM report: expanding and improving the quality of epidemiological surveillance in epilepsy; developing improved interventions for people with epilepsy and depression; expanding early identification/screening for learning impairments in children with epilepsy; evaluating and promoting effective innovative teaching strategies; accelerating research on the identification of risk factors and interventions that increase employment and improve quality of life for people with epilepsy and their families; assessing the information needs of people with epilepsy and their families associated with epilepsy-related risks, specifically sudden unexpected death in epilepsy; and developing and conducting surveys to capture trends in knowledge, awareness, attitudes, and beliefs about epilepsy over time and in specific population subgroups. For each research priority selected, examples of research are provided that will advance the field of epilepsy and improve the lives

  6. Neuroimaging in Epilepsy

    Directory of Open Access Journals (Sweden)

    Mahmoud Motamedi

    2009-01-01

    Full Text Available Introduction: The assessment of the problem of seizures requires knowledge of the clinical details and features of the seizures, the functional abnormality in the brain as shown on the EEG, and the structural assessment of the brain with an MRI study optimized for epilepsy. Usually MRI or computed tomographic (CT scan should be performed in evaluating the cause of a newly diagnosed seizure disorder. MRI is preferred over CT because of its greater sensitivity and specificity for identifying small lesions."nBecause there is an option of surgical excision of the "seizure focus," which may cure the patient, the detection of a focal abnormality of the brain is important for the formulation of the reason for the seizures and the options available for treatment. Knowledge of the brain abnormalities early in the course of treating the patient greatly helps the management of each individual. The challenge to epileptologists is that the problem of epilepsy is a special one, which requires optimized protocols dedicated to it."nMRI interpretation is different when used in a screening way and when viewed in the context of other investigations. This is particularly important when the patient has partial seizures and may be considered for surgical treatment."nMost centers that deal with epilepsy spend a great deal of time in ensuring the quality of their EEG and EEG interpretation. However, unless there is a radiologist with an interest in epilepsy or an epileptologist who spends time with radiologist colleagues, it can be difficult to establish good epilepsy-focused MRI with appropriate sequences, radiography, and interpretation. MRI acquisition and interpretation need to be focused on the problem of epilepsy."nIndication"nThe American academy of neurology has published practice parameters for neuroimaging (NI studies (MRI, CT of patients having a first seizure. Emergent NI (scan immediately should be performed when a health care provider suspects a serious

  7. Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3.

    Science.gov (United States)

    Korenke, Georg-Christoph; Eggert, Marlene; Thiele, Holger; Nürnberg, Peter; Sander, Thomas; Steinlein, Ortrud K

    2016-03-01

    Mutations in NPRL3, one of three genes that encode proteins of the mTORC1-regulating GATOR1 complex, have recently been reported to cause cortical dysplasia with focal epilepsy. We have now analyzed a multiplex epilepsy family by whole exome sequencing and identified a frameshift mutation (NM_001077350.2; c.1522delG; p.E508Rfs*46) within exon 13 of NPRL3. This truncating mutation causes an epilepsy phenotype characterized by early childhood onset of mainly nocturnal frontal lobe epilepsy. The penetrance in our family was low (three affected out of six mutation carriers), compared to families with either ion channel- or DEPDC5-associated familial nocturnal frontal lobe epilepsy. The absence of apparent structural brain abnormalities suggests that mutations in NPRL3 are not necessarily associated with focal cortical dysplasia but might be able to cause epilepsy by different, yet unknown pathomechanisms.

  8. Failure of antiepileptic drugs in controlling seizures in epilepsy: What do we do next?

    Directory of Open Access Journals (Sweden)

    Brahyan Galindo-Mendez

    2015-01-01

    Full Text Available Medically intractable epilepsy is a clinical condition of concern that arises when a patient with epilepsy suffers seizures, despite a trial of two or more antiepileptic drugs (AEDs suitable for the type of epilepsy that are prescribed at maximum tolerated doses, does not achieve control of seizures. This diagnosis could be related to cortical dysplasias. We report the case of a 5-year-old girl with a previous normal neurological development and no family history of epilepsy who presented with focal-type seizures at age 4. She started treatment by taking different AEDs for seizure control. She continued having frequent seizures that sometimes progressed to generalized seizures and status epilepticus. After a focal cortical resection performed in the area where interictal spikes were detected, the pathology confirmed a type IIb cortical dysplasia as the cause of the epilepsy. This article discusses cortical dysplasias as a cause of pharmacoresistant epilepsy and its treatment.

  9. Two epileptic syndromes, one brain: childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes.

    Science.gov (United States)

    Cerminara, Caterina; Coniglio, Antonella; El-Malhany, Nadia; Casarelli, Livia; Curatolo, Paolo

    2012-01-01

    Childhood absence epilepsy (CAE) and benign childhood epilepsy with centrotemporal spikes (BCECTS), or benign rolandic epilepsy (BRE), are the most common forms of childhood epilepsy. CAE and BCECTS are well-known and clearly defined syndromes; although they are strongly dissimilar in terms of their pathophysiology, these functional epileptic disturbances share many features such as similar age at onset, overall good prognosis, and inheritance factors. Few reports are available on the concomitance of CAE and BCECTS in the same patients or the later occurrence of generalized epilepsy in patients with a history of partial epilepsy. In most cases described in the literature, absence seizures always started after the onset of benign focal epilepsy but the contrary has never occurred yet. We describe two patients affected by idiopathic generalized epileptic syndrome with typical absences, who experienced BCECTS after remission of seizures and normalization of EEG recordings. While the coexistence of different seizure types within an epileptic syndrome is not uncommon, the occurrence of childhood absence and BCECTS in the same child appears to be extremely rare, and this extraordinary event supports the hypothesis that CAE and BCECTS are two distinct epileptic conditions. However, recent interesting observations in animal models suggest that BCECTS and CAE could be pathophysiologically related and that genetic links could play a large role.

  10. Focal epithelial hyperplasia: Case report.

    Science.gov (United States)

    Puriene, Alina; Rimkevicius, Arunas; Gaigalas, Mindaugas

    2011-01-01

    The purpose of the present article is to present a 15 year-old patient with focal epithelial hyperplasia and to review the references on the subject-related etiological, pathological, diagnostic and treatment aspects. Focal epithelial hyperplasia is a rare human papilloma virus (HPV) related to oral lesion with very low frequency within our population. Surgical treatment with a biopsy was performed, acanthosis and parakeratosis are consistent histopathological features, since the patient had no history of sexual contact and HIV infection, the virus was probably acquired from environmental sources.

  11. Hereditary epilepsy syndromes

    NARCIS (Netherlands)

    Callenbach, PMC; Brouwer, OF

    1997-01-01

    This paper reviews the present knowledge on the genetics of the epilepsies. Main clinical features, gene localization and pattern of inheritance of the idiopathic epilepsies, the progressive myoclonus epilepsies, and some other genetic disorders often associated with epilepsy, are described. (C) 199

  12. Hereditary epilepsy syndromes

    NARCIS (Netherlands)

    Callenbach, PMC; Brouwer, OF

    This paper reviews the present knowledge on the genetics of the epilepsies. Main clinical features, gene localization and pattern of inheritance of the idiopathic epilepsies, the progressive myoclonus epilepsies, and some other genetic disorders often associated with epilepsy, are described. (C)

  13. The Opioid System in Temporal Lobe Epilepsy: Functional Role and Therapeutic Potential

    Directory of Open Access Journals (Sweden)

    Johannes Burtscher

    2017-08-01

    Full Text Available Temporal lobe epilepsy is considered to be one of the most common and severe forms of focal epilepsies. Patients often develop cognitive deficits and emotional blunting along the progression of the disease. The high incidence of resistance to antiepileptic drugs and a frequent lack of admissibility to surgery poses an unmet medical challenge. In the urgent quest of novel treatment strategies, neuropeptides are interesting candidates, however, their therapeutic potential has not yet been exploited. This review focuses on the functional role of the endogenous opioid system with respect to temporal lobe epilepsy, specifically in the hippocampus. The role of dynorphins and kappa opioid receptors (KOPr as modulators of neuronal excitability is well understood: both the reduced release of glutamate as well of postsynaptic hyperpolarization were shown in glutamatergic neurons. In line with this, low levels of dynorphin in humans and mice increase the risk of epilepsy development. The role of enkephalins is not understood so well. On one hand, some agonists of the delta opioid receptors (DOPr display pro-convulsant properties probably through inhibition of GABAergic interneurons. On the other hand, enkephalins play a neuro-protective role under hypoxic or anoxic conditions, most probably through positive effects on mitochondrial function. Despite the supposed absence of endorphins in the hippocampus, exogenous activation of the mu opioid receptors (MOPr induces pro-convulsant effects. Recently-expanded knowledge of the complex ways opioid receptors ligands elicit their effects (including biased agonism, mixed binding, and opioid receptor heteromers, opens up exciting new therapeutic potentials with regards to seizures and epilepsy. Potential adverse side effects of KOPr agonists may be minimized through functional selectivity. Preclinical data suggest a high potential of such compounds to control seizures, with a strong predictive validity toward human

  14. The Opioid System in Temporal Lobe Epilepsy: Functional Role and Therapeutic Potential.

    Science.gov (United States)

    Burtscher, Johannes; Schwarzer, Christoph

    2017-01-01

    Temporal lobe epilepsy is considered to be one of the most common and severe forms of focal epilepsies. Patients often develop cognitive deficits and emotional blunting along the progression of the disease. The high incidence of resistance to antiepileptic drugs and a frequent lack of admissibility to surgery poses an unmet medical challenge. In the urgent quest of novel treatment strategies, neuropeptides are interesting candidates, however, their therapeutic potential has not yet been exploited. This review focuses on the functional role of the endogenous opioid system with respect to temporal lobe epilepsy, specifically in the hippocampus. The role of dynorphins and kappa opioid receptors (KOPr) as modulators of neuronal excitability is well understood: both the reduced release of glutamate as well of postsynaptic hyperpolarization were shown in glutamatergic neurons. In line with this, low levels of dynorphin in humans and mice increase the risk of epilepsy development. The role of enkephalins is not understood so well. On one hand, some agonists of the delta opioid receptors (DOPr) display pro-convulsant properties probably through inhibition of GABAergic interneurons. On the other hand, enkephalins play a neuro-protective role under hypoxic or anoxic conditions, most probably through positive effects on mitochondrial function. Despite the supposed absence of endorphins in the hippocampus, exogenous activation of the mu opioid receptors (MOPr) induces pro-convulsant effects. Recently-expanded knowledge of the complex ways opioid receptors ligands elicit their effects (including biased agonism, mixed binding, and opioid receptor heteromers), opens up exciting new therapeutic potentials with regards to seizures and epilepsy. Potential adverse side effects of KOPr agonists may be minimized through functional selectivity. Preclinical data suggest a high potential of such compounds to control seizures, with a strong predictive validity toward human patients. The

  15. International veterinary epilepsy task force consensus report on epilepsy definition, classification and terminology in companion animals.

    Science.gov (United States)

    Berendt, Mette; Farquhar, Robyn G; Mandigers, Paul J J; Pakozdy, Akos; Bhatti, Sofie F M; De Risio, Luisa; Fischer, Andrea; Long, Sam; Matiasek, Kaspar; Muñana, Karen; Patterson, Edward E; Penderis, Jacques; Platt, Simon; Podell, Michael; Potschka, Heidrun; Pumarola, Martí Batlle; Rusbridge, Clare; Stein, Veronika M; Tipold, Andrea; Volk, Holger A

    2015-08-28

    Dogs with epilepsy are among the commonest neurological patients in veterinary practice and therefore have historically attracted much attention with regard to definitions, clinical approach and management. A number of classification proposals for canine epilepsy have been published during the years reflecting always in parts the current proposals coming from the human epilepsy organisation the International League Against Epilepsy (ILAE). It has however not been possible to gain agreed consensus, "a common language", for the classification and terminology used between veterinary and human neurologists and neuroscientists, practitioners, neuropharmacologists and neuropathologists. This has led to an unfortunate situation where different veterinary publications and textbook chapters on epilepsy merely reflect individual author preferences with respect to terminology, which can be confusing to the readers and influence the definition and diagnosis of epilepsy in first line practice and research studies.In this document the International Veterinary Epilepsy Task Force (IVETF) discusses current understanding of canine epilepsy and presents our 2015 proposal for terminology and classification of epilepsy and epileptic seizures. We propose a classification system which reflects new thoughts from the human ILAE but also roots in former well accepted terminology. We think that this classification system can be used by all stakeholders.

  16. Focal adhesion kinase antisense oligodeoxynucleotides inhibit human pulmonary artery smooth muscle cells proliferation and promote human pulmonary artery smooth muscle cells apoptosis

    Institute of Scientific and Technical Information of China (English)

    LIN Chun-long; ZHANG Zhen-xiang; XU Yong-jian; NI Wang; CHEN Shi-xin

    2005-01-01

    Background Pulmonary artery smooth muscle cell (PASMC) proliferation plays an important role in pulmonary vessel structural remodelling. At present, the mechanisms related to proliferation of PASMCs are not clear. Focal adhesion kinase (FAK) is a widely expressed nonreceptor protein tyrosine kinase. Recent research indicates that FAK is implicated in signalling pathways which regulate cytoskeletal organization, adhesion, migration, survival and proliferation of cells. Furthermore, there are no reports about the role of FAK in human pulmonary artery smooth muscle cells (HPASMCs). We investigated whether FAK takes part in the intracellular signalling pathway involved in HPASMCs proliferation and apoptosis, by using antisense oligodeoxynucleotides (ODNs) to selectively suppress the expression of FAK protein.Methods Cultured HPASMCs stimulated by fibronectin (40 μg/ml) were passively transfected with ODNs, sense FAK, mismatch sense and antisense-FAK respectively. Expression of FAK, Jun NH2-terminal kinase (JNK), cyclin-dependent kinase 2 (CDK 2) and caspase-3 proteins were detected by immunoprecipitation and Western blots. Cell cycle and cell apoptosis were analysed by flow cytometry. In addition, cytoplasmic FAK expression was detected by immunocytochemical staining.Results When compared with mismatch sense group, the protein expressions of FAK, JNK and CDK 2 in HPASMCs decreased in antisense-FAK ODNs group and increased in sense-FAK ODNs group significantly. Caspase-3 expression upregulated in HPASMCs when treated with antisense ODNs and downregulated when treated with sense ODNs. When compared with mismatch sense ODNs group, the proportion of cells at G1 phase decreased significantly in sense ODNs group, while the proportion of cells at S phase increased significantly. In contrast, compared with mismatch sense ODNs group, the proportion of cells at G1 phase was increased significantly in antisense-FAK ODNs group. The level of cell apoptosis in antisense-FAK group

  17. Rates and predictors of seizure freedom in resective epilepsy surgery: an update

    OpenAIRE

    Englot, Dario J.; Chang, Edward F.

    2014-01-01

    Epilepsy is a debilitating neurological disorder affecting approximately 1 % of the world’s population. Drug-resistant focal epilepsies are potentially surgically remediable. Although epilepsy surgery is dramatically underutilized among medically refractory patients, there is an expanding collection of evidence supporting its efficacy which may soon compel a paradigm shift. Of note is that a recent randomized controlled trial demonstrated that early resection leads to considerably better seiz...

  18. Neuropeptides in epilepsy.

    Science.gov (United States)

    Kovac, Stjepana; Walker, Matthew C

    2013-12-01

    Neuropeptides play an important role in modulating seizures and epilepsy. Unlike neurotransmitters which operate on a millisecond time-scale, neuropeptides have longer half lives; this leads to modulation of neuronal and network activity over prolonged periods, so contributing to setting the seizure threshold. Most neuropeptides are stored in large dense vesicles and co-localize with inhibitory interneurons. They are released upon high frequency stimulation making them attractive targets for modulation of seizures, during which high frequency discharges occur. Numerous neuropeptides have been implicated in epilepsy; one, ACTH, is already used in clinical practice to suppress seizures. Here, we concentrate on neuropeptides that have a direct effect on seizures, and for which therapeutic interventions are being developed. We have thus reviewed the abundant reports that support a role for neuropeptide Y (NPY), galanin, ghrelin, somatostatin and dynorphin in suppressing seizures and epileptogenesis, and for tachykinins having pro-epileptic effects. Most in vitro and in vivo studies are performed in hippocampal tissue in which receptor expression is usually high, making translation to other brain areas less clear. We highlight recent therapeutic strategies to treat epilepsy with neuropeptides, which are based on viral vector technology, and outline how such interventions need to be refined in order to address human disease.

  19. The cultivation of epilepsy neurosurgeons:requirements and challenges

    Institute of Scientific and Technical Information of China (English)

    Kai Zhang; Jianguo Zhang; Yanshan Ma; Xiaoqiu Shao; Wenhan Hu; Baotian Zhao

    2016-01-01

    Epilepsy surgery has been accepted as an effective treatment in drug-resistant focal epilepsy.However,the number of epilepsy neurosurgeons is not enough in China compared with the huge demand.The content of epilepsy neurosurgeon cultivation includes surgery itself as well as presurgical evaluation.In this article,we review not only different categories of epilepsy surgeries but also the presurgical evaluation approaches including non-invasive methods,such as semiology analysis,high-resolution structural and functional imaging techniques,scalp electroencephalography monitoring as well as invasive methods,such as electrocorticography (ECoG) and stereotactic electroencephalography (SEEG).We also discuss the importance of learning each method briefly.In addition,we suggest that epilepsy neurosurgeons should have a solid structural and functional anatomy basis as it plays pivotal role in localizing epileptogenic zone.Epilepsy neurosurgeons should also be familiar with the staged presurgical evaluation starting from the most preliminary examinations and progressing to more complex and invasive methods.During the diagnosis and therapeutic procedures,collaboration between epilepsy neurosurgeons and other specialists is essential.At last,the necessity of epilepsy neurosurgeon cultivation has been emphasized.

  20. Efficacy of the Atkins diet as therapy for intractable epilepsy.

    Science.gov (United States)

    Kossoff, Eric H; Krauss, Gregory L; McGrogan, Jane R; Freeman, John M

    2003-12-23

    The ketogenic diet is effective for treating seizures in children with epilepsy. The Atkins diet can also induce a ketotic state, but has fewer protein and caloric restrictions, and has been used safely by millions of people worldwide for weight reduction. Six patients, aged 7 to 52 years, were started on the Atkins diet for the treatment of intractable focal and multifocal epilepsy. Five patients maintained moderate to large ketosis for periods of 6 weeks to 24 months; three patients had seizure reduction and were able to reduce antiepileptic medications. This provides preliminary evidence that the Atkins diet may have a role as therapy for patients with medically resistant epilepsy.

  1. Dostoevsky's epilepsy: a new approach to retrospective diagnosis.

    Science.gov (United States)

    Rayport, Shirley M Ferguson; Rayport, Mark; Schell, Carolyn A

    2011-11-01

    There has been considerable debate about Fyodor Dostoevsky's epilepsy. Was his epilepsy generalized or focal? Was the dramatic ecstatic experience an epileptic phenomenon or a literary invention? We compared probable epileptically related behavioral manifestations in The Idiot with experiences of current patients, studied with a modern interdisciplinary approach involving neurosurgery, neurology, and neuropsychiatry. Patients were studied by all disciplines starting with their initial evaluation and trial of antiseizure medication, during hospitalization for long-term monitoring for epilepsy at scalp and depth levels with electrical brain stimulation, during intraoperative interviews, and in long-term postoperative follow-up. Behavioral manifestations, clearly shown to be phenomena of the epilepsy in our patients, were the template for defining the epileptic nature of the behavioral symptomatology described by Dostoevsky in his literary character, Prince Myshkin. We conclude that Dostoevsky had temporolimbic epilepsy and that the ecstatic experience is an epileptic phenomenon. Copyright © 2011 Elsevier Inc. All rights reserved.

  2. Unmasking of myoclonus by lacosamide in generalized epilepsy.

    Science.gov (United States)

    Birnbaum, Daniel; Koubeissi, Mohamad

    2017-01-01

    Lacosamide is a new-generation antiseizure medication that is approved for use as an adjunctive treatment and monotherapy in focal epilepsy. Its use in generalized epilepsy, however, has not been adequately evaluated in controlled trials. We report a 67-year-old woman who experienced new-onset myoclonic seizures after initiation of lacosamide. We presume that she had an undiagnosed generalized epilepsy syndrome, likely juvenile myoclonic epilepsy. Myoclonic seizures were not reported before introducing lacosamide and completely resolved after lacosamide was discontinued. This suggests that lacosamide may have the potential to worsen myoclonus, similar to what has been reported with another sodium channel agent, lamotrigine, in some individuals with genetic generalized epilepsy (GGE).

  3. Exploring the interaction between human focal adhesion kinase and inhibitors: a molecular dynamic simulation and free energy calculations.

    Science.gov (United States)

    Zhan, Jiu-Yu; Zhang, Ji-Long; Wang, Yan; Li, Ye; Zhang, Hong-Xing; Zheng, Qing-Chuan

    2016-11-01

    Focal adhesion kinase is an important target for the treatment of many kinds of cancers. Inhibitors of FAK are proposed to be the anticancer agents for multiple tumors. The interaction characteristic between FAK and its inhibitors is crucial to develop new inhibitors. In the present article, we used Molecular Dynamic (MD) simulation method to explore the characteristic of interaction between FAK and three inhibitors (PHM16, TAE226, and ligand3). The MD simulation results together with MM-GB/SA calculations show that the combinations are enthalpy-driven process. Cys502 and Asp564 are both essential residues due to the hydrogen bond interactions with inhibitors, which was in good agreement with experimental data. Glu500 can form a non-classical hydrogen bond with each inhibitor. Arg426 can form electrostatic interactions with PHM16 and ligand3, while weaker with TAE226. The electronic static potential was employed, and we found that the ortho-position methoxy of TAE226 has a weaker negative charge than the meta-position one in PHM16 or ligand3. Ile428, Val436, Ala452, Val484, Leu501, Glu505, Glu506, Leu553, Gly563 Leu567, Ser568 are all crucial residues in hydrophobic interactions. The key residues in this work will be available for further inhibitor design of FAK and also give assistance to further research of cancer.

  4. SPECT in epilepsies; SPECT bei Epilepsien

    Energy Technology Data Exchange (ETDEWEB)

    Stefan, H. [Neurologische Klinik, Univ. Erlangen-Nuernberg, Zentrum Epilepsie Erlangen (Germany)

    1997-06-01

    Registration of regional cerebral blood flow provides important new data for the investigation of pathophysiological processes in epilepsies. Further to the registration of perfusions, receptor studies are employed for the differentiation of localisation in focal epilepsies. For ultimative issues interictal registrations are supplemented by ictal recordings during the epileptic seizure. The combination of SPECT and electrophysiological registration can contribute to analysis of propagation of focal epileptic activity. (orig.) [Deutsch] Die Messung der regionalen Hirndurchblutung liefert wichtige neue Erkenntnis zur Untersuchung pathophysiologischer Ablaeufe bei Epilepsien. Ergaenzend zur Registrierung der Perfusion koennen Rezeptor-Studien zur Differenzierung der Lokalisation fokaler Epilepsien beitragen. Interiktale Registrierungen werden fuer letztere Fragestellung durch iktuale Messungen waehrend des epileptischen Anfalls ergaenzt. Die Kombination von SPECT und elektrophysiologischen Registrierungen kann zur Analyse der Propagation fokaler epileptischer Aktivitaet beitragen. (orig.)

  5. Childhood epilepsy and sleep

    OpenAIRE

    Al-Biltagi, Mohammed A

    2014-01-01

    Sleep and epilepsy are two well recognized conditions that interact with each other in a complex bi-directional way. Some types of epilepsies have increased activity during sleep disturbing it; while sleep deprivation aggravates epilepsy due to decreased seizure threshold. Epilepsy can deteriorate the sleep-related disorders and at the same time; the parasomnias can worsen the epilepsy. The secretion of sleep-related hormones can also be affected by the occurrence of seizures and supplementat...

  6. Focal femoral condyle resurfacing.

    LENUS (Irish Health Repository)

    Brennan, S A

    2013-03-01

    Focal femoral inlay resurfacing has been developed for the treatment of full-thickness chondral defects of the knee. This technique involves implanting a defect-sized metallic or ceramic cap that is anchored to the subchondral bone through a screw or pin. The use of these experimental caps has been advocated in middle-aged patients who have failed non-operative methods or biological repair techniques and are deemed unsuitable for conventional arthroplasty because of their age. This paper outlines the implant design, surgical technique and biomechanical principles underlying their use. Outcomes following implantation in both animal and human studies are also reviewed. Cite this article: Bone Joint J 2013;95-B:301-4.

  7. Extensive focal epithelial hyperplasia.

    Science.gov (United States)

    Hashemipour, Maryam Alsadat; Shoryabi, Ali; Adhami, Shahrzad; Mehrabizadeh Honarmand, Hoda

    2010-01-01

    Heck's disease or focal epithelial hyperplasia is a benign contagious disease caused by human papillomavirus types 13 or 32. It occurs with low frequency in the Iranian population. This condition is characterized by the occurrence of multiple, small papules or nodules in the oral cavity, especially on the labial and buccal mucosa and tongue. In some populations, up to 39% of children are affected. Conservative surgical excision of lesions may be performed for diagnostic or aesthetic purposes. The risk of recurrence after this therapy is minimal, and there seems to be no malignant transformation potential. In the present work, we presented the clinical case of a 12-year-old Iranian girl with oral lesions that clinically and histologically correspond to Heck's disease.

  8. Neural Stem Cell or Human Induced Pluripotent Stem Cell-Derived GABA-ergic Progenitor Cell Grafting in an Animal Model of Chronic Temporal Lobe Epilepsy.

    Science.gov (United States)

    Upadhya, Dinesh; Hattiangady, Bharathi; Shetty, Geetha A; Zanirati, Gabriele; Kodali, Maheedhar; Shetty, Ashok K

    2016-08-17

    Grafting of neural stem cells (NSCs) or GABA-ergic progenitor cells (GPCs) into the hippocampus could offer an alternative therapy to hippocampal resection in patients with drug-resistant chronic epilepsy, which afflicts >30% of temporal lobe epilepsy (TLE) cases. Multipotent, self-renewing NSCs could be expanded from multiple regions of the developing and adult brain, human embryonic stem cells (hESCs), and human induced pluripotent stem cells (hiPSCs). On the other hand, GPCs could be generated from the medial and lateral ganglionic eminences of the embryonic brain and from hESCs and hiPSCs. To provide comprehensive methodologies involved in testing the efficacy of transplantation of NSCs and GPCs in a rat model of chronic TLE, NSCs derived from the rat medial ganglionic eminence (MGE) and MGE-like GPCs derived from hiPSCs are taken as examples in this unit. The topics comprise description of the required materials, reagents and equipment, methods for obtaining rat MGE-NSCs and hiPSC-derived MGE-like GPCs in culture, generation of chronically epileptic rats, intrahippocampal grafting procedure, post-grafting evaluation of the effects of grafts on spontaneous recurrent seizures and cognitive and mood impairments, analyses of the yield and the fate of graft-derived cells, and the effects of grafts on the host hippocampus. © 2016 by John Wiley & Sons, Inc. Copyright © 2016 John Wiley & Sons, Inc.

  9. Advances in epilepsy treatment: lacosamide pharmacokinetic profile.

    Science.gov (United States)

    Cawello, Willi; Stockis, Armel; Andreas, Jens-Otto; Dimova, Svetlana

    2014-11-01

    Lacosamide (LCM) is a functionalized amino acid specifically developed for use as an antiepileptic drug (AED) and is currently indicated as adjunctive treatment for partial-onset seizures in adults with focal epilepsy (maximum approved dose 400 mg/day). Characterization of the pharmacokinetic profile is an important aspect in the development of LCM. Studies in healthy subjects and in patients with focal epilepsy have established that LCM has several favorable pharmacokinetic characteristics, including rapid absorption and high oral bioavailability not affected by food, linear and dose-proportional pharmacokinetics, low inter- and intraindividual variability, low plasma protein binding, renal elimination, and a low potential for clinically relevant pharmacokinetic drug-drug interactions both with AEDs and other common medications. Studies have demonstrated bioequivalence among the three LCM formulations (oral tablets, oral solution, and solution for intravenous (IV) infusion), allowing direct conversion to or from oral and IV administration without titration. Thus, the favorable and predictable pharmacokinetic profile and bioequivalence of LCM formulations, coupled with the low potential for clinically relevant pharmacokinetic drug-drug interactions, make LCM an easy-to-use adjunctive treatment for the management of patients with focal epilepsy. © 2014 New York Academy of Sciences.

  10. Translational approach for gene therapy in epilepsy

    DEFF Research Database (Denmark)

    Ledri, Litsa Nikitidou; Melin, Esbjörn; Christiansen, Søren H.

    2016-01-01

    Although novel treatment strategies based on the gene therapy approach for epilepsy has been encouraging, there is still a gap in demonstrating a proof-of-concept in a clinically relevant animal model and study design. In the present study, a conceptually novel framework reflecting a plausible...... clinical trial for gene therapy of temporal lobe epilepsy was explored: We investigated (i) whether the post intrahippocampal kainate-induced status epilepticus (SE) model of chronic epilepsy in rats could be clinically relevant; and (ii) whether a translationally designed neuropeptide Y (NPY)/Y2 receptor......-based gene therapy approach targeting only the seizure-generating focus unilaterally can decrease seizure frequency in this chronic model of epilepsy.Our data suggest that the intrahippocampal kainate model resembles the disease development of human chronic mesial temporal lobe epilepsy (mTLE): (i...

  11. Antitumor effect of focal adhesion kinase inhibitor PF562271 against human osteosarcoma in vitro and in vivo.

    Science.gov (United States)

    Hu, Chuanzhen; Chen, Xu; Wen, Junxiang; Gong, Liangzhi; Liu, Zhuochao; Wang, Jun; Liang, Jing; Hu, Fangqiong; Zhou, Qi; Wei, Li; Shen, Yuhui; Zhang, Weibin

    2017-07-01

    Focal adhesion kinase (FAK) overexpression is related to invasive and metastatic properties in different kinds of cancers. Target therapy by inhibiting FAK has achieved promising effect in some cancer treatments, but its effect in human osteosarcoma has not been well studied. In the present study, we analyzed the antitumor efficacy of PF562271, an FAK inhibitor, against osteosarcoma in vitro and in vivo. Phosphorylated FAK (Y397) was highly expressed in primary human osteosarcoma tumor samples and was associated with osteosarcoma prognosis and lung metastasis. PF562271 greatly suppressed proliferation and colony formation in human osteosarcoma cell lines. In addition, treatment of osteosarcoma cell lines with PF562271 induced apoptosis and downregulated the activity of the protein kinase B/mammalian target of rapamycin pathway. PF562271 also impaired the tube formation ability of endothelial cells in vitro. Finally, oral treatment with PF562271 in mice dramatically reduced tumor volume, weight, and angiogenesis of osteosarcoma xenografts in vivo. These results indicate that FAK inhibitor PF562271 can potentially be effectively used for the treatment of osteosarcoma. © 2017 The Authors. Cancer Science published by John Wiley & Sons Australia, Ltd on behalf of Japanese Cancer Association.

  12. Fever, febrile seizures and epilepsy.

    Science.gov (United States)

    Dubé, Céline M; Brewster, Amy L; Richichi, Cristina; Zha, Qinqin; Baram, Tallie Z

    2007-10-01

    Seizures induced by fever (febrile seizures) are the most common type of pathological brain activity in infants and children. These febrile seizures and their potential contribution to the mechanisms of limbic (temporal lobe) epilepsy have been a topic of major clinical and scientific interest. Key questions include the mechanisms by which fever generates seizures, the effects of long febrile seizures on neuronal function and the potential contribution of these seizures to epilepsy. This review builds on recent advances derived from animal models and summarizes our current knowledge of the mechanisms underlying febrile seizures and of changes in neuronal gene expression and function that facilitate the enduring effects of prolonged febrile seizures on neuronal and network excitability. The review also discusses the relevance of these findings to the general mechanisms of epileptogenesis during development and points out gaps in our knowledge, including the relationship of animal models to human febrile seizures and epilepsy.

  13. Rates and predictors of seizure freedom in resective epilepsy surgery: an update.

    Science.gov (United States)

    Englot, Dario J; Chang, Edward F

    2014-07-01

    Epilepsy is a debilitating neurological disorder affecting approximately 1 % of the world's population. Drug-resistant focal epilepsies are potentially surgically remediable. Although epilepsy surgery is dramatically underutilized among medically refractory patients, there is an expanding collection of evidence supporting its efficacy which may soon compel a paradigm shift. Of note is that a recent randomized controlled trial demonstrated that early resection leads to considerably better seizure outcomes than continued medical therapy in patients with pharmacoresistant temporal lobe epilepsy. In the present review, we provide a timely update of seizure freedom rates and predictors in resective epilepsy surgery, organized by the distinct pathological entities most commonly observed. Class I evidence, meta-analyses, and individual observational case series are considered, including the experiences of both our institution and others. Overall, resective epilepsy surgery leads to seizure freedom in approximately two thirds of patients with intractable temporal lobe epilepsy and about one half of individuals with focal neocortical epilepsy, although only the former observation is supported by class I evidence. Two common modifiable predictors of postoperative seizure freedom are early operative intervention and, in the case of a discrete lesion, gross total resection. Evidence-based practice guidelines recommend that epilepsy patients who continue to have seizures after trialing two or more medication regimens should be referred to a comprehensive epilepsy center for multidisciplinary evaluation, including surgical consideration.

  14. Rates and predictors of seizure freedom in resective epilepsy surgery: an update

    Science.gov (United States)

    Englot, Dario J.; Chang, Edward F.

    2017-01-01

    Epilepsy is a debilitating neurological disorder affecting approximately 1 % of the world’s population. Drug-resistant focal epilepsies are potentially surgically remediable. Although epilepsy surgery is dramatically underutilized among medically refractory patients, there is an expanding collection of evidence supporting its efficacy which may soon compel a paradigm shift. Of note is that a recent randomized controlled trial demonstrated that early resection leads to considerably better seizure outcomes than continued medical therapy in patients with pharmacoresistant temporal lobe epilepsy. In the present review, we provide a timely update of seizure freedom rates and predictors in resective epilepsy surgery, organized by the distinct pathological entities most commonly observed. Class I evidence, meta-analyses, and individual observational case series are considered, including the experiences of both our institution and others. Overall, resective epilepsy surgery leads to seizure freedom in approximately two thirds of patients with intractable temporal lobe epilepsy and about one half of individuals with focal neocortical epilepsy, although only the former observation is supported by class I evidence. Two common modifiable predictors of postoperative seizure freedom are early operative intervention and, in the case of a discrete lesion, gross total resection. Evidence-based practice guidelines recommend that epilepsy patients who continue to have seizures after trialing two or more medication regimens should be referred to a comprehensive epilepsy center for multidisciplinary evaluation, including surgical consideration. PMID:24497269

  15. Polymicrogyria-associated epilepsy: a multi-center phenotypic study from the Epilepsy Phenome/Genome Project

    Science.gov (United States)

    Shain, Catherine; Ramgopal, Sriram; Fallil, Zianka; Parulkar, Isha; Alongi, Richard; Knowlton, Robert; Poduri, Annapurna

    2013-01-01

    Purpose Polymicrogyria (PMG) is an epileptogenic malformation of cortical development. We describe the clinical epilepsy and imaging features of a large cohort with PMG-related epilepsy. Methods Participants were recruited through the Epilepsy Phenome/Genome Project, a multi-center collaborative effort to collect detailed phenotypic data on individuals with epilepsy. We reviewed phenotypic data from participants with epilepsy and PMG. Key Findings We identified 87 participants, 43 female and 44 male, with PMG and epilepsy. Median age of seizure onset was 3 years (range <1 month-37 years). Most presented with focal epilepsy (87.4%), some in combination with seizures generalized from onset (23.0%). Focal seizures with dyscognitive features were most common (54.3%). Of those presenting with generalized seizure types, infantile spasms were most prevalent (45.2%). The most common topographic pattern was perisylvian PMG (77.0%), of which the majority was bilateral (56.7%). Generalized PMG presented with an earlier age of seizure onset (median age of 8 months) and an increased prevalence of developmental delay prior to seizure onset (57.1%). Of the focal, unilateral and asymmetric bilateral groups where PMG was more involved in one hemisphere, the majority (71.4%) of participants had seizures that lateralized to the same hemisphere as the PMG or the hemisphere with greater involvement. Significance Participants with PMG had both focal and generalized onset of seizures. Our data confirm the involvement of known topographic patterns of PMG and suggest that more extensive distributions of PMG present with an earlier age of seizure onset and increased prevalence of developmental delay prior to seizure onset. PMID:23750890

  16. The evolution of epilepsy theory and practice at the National Hospital for the Relief and Cure of Epilepsy, Queen Square between 1860 and 1910.

    Science.gov (United States)

    Shorvon, Simon

    2014-02-01

    In the years between 1860 and 1910, a revolution in epilepsy theory and practice occurred. The National Hospital for the Relief and Cure of the Paralysed and the Epileptic at Queen Square in London was at the center of this revolution. A series of remarkable physicians and surgeons were appointed to the staff. The four greatest were John Hughlings Jackson, Sir David Ferrier, Sir Victor Horsley, and Sir William Gowers. Their lasting contribution to epilepsy is discussed. Other physicians who made notable contributions to epilepsy were Jabez Spence Ramskill, Charles Eduard Brown-Séquard, Charles Bland Radcliffe, Sir John Russell Reynolds, Sir Edward Henry Sieveking, Walter Stacy Colman, and William Aldren Turner. At the hospital in this period, amongst the lasting contributions to epilepsy were the following: the development of a new conceptual basis of epilepsy, the development of a theory of the physiological structure of the nervous system in relation to epilepsy, the demonstration and investigation of cortical localization of epileptic activity, the establishment of the principle of focal epilepsy and the description of focal seizure types, the discovery of the first effective drug treatment for epilepsy (bromide therapy, indeed one of the first effective drug treatments in the whole of neurology), and the performance of the first surgical operation for epilepsy. This paper is based on the 2013 Gowers Memorial Lecture, delivered in May 2013.

  17. High frequency oscillations mirror disease activity in patients with focal cortical dysplasia.

    Science.gov (United States)

    Kerber, Karolin; LeVan, Pierre; Dümpelmann, Matthias; Fauser, Susanne; Korinthenberg, Rudolf; Schulze-Bonhage, Andreas; Jacobs, Julia

    2013-08-01

    The study analyzes the occurrence of high frequency oscillations in different types of focal cortical dysplasia in 22 patients with refractory epilepsy. High frequency oscillations are biomarkers for epileptic tissue, but it is unknown whether they can reflect increasingly dysplastic tissue changes as well as epileptic disease activity. High frequency oscillations (80-450 Hz) were visually marked by two independent reviewers in all channels of intracranial implanted grid, strips, and depth electrodes in patients with focal cortical dysplasia and refractory epilepsy. Rates of high frequency oscillations in patients with pathologically confirmed focal cortical dysplasia of Palmini type 1a and b were compared with those in type 2a and b. Patients with focal cortical dysplasia type 2 had significantly more seizures than those with type 1 (p high frequency oscillations were significantly higher in patients with focal cortical dysplasia type 2 versus type 1 (p high frequency oscillations were significantly higher in presumed epileptogenic areas than outside (p high frequency oscillations mirrors the higher epileptogenicity of focal cortical dysplasia type 2 lesions compared to type 1 lesions. Therefore, rates of high frequency oscillations can reflect disease activity of a lesion. This has implications for the use of high frequency oscillations as biomarkers for epileptogenic areas, because a detailed analysis of their rates may be necessary to use high frequency oscillations as a predictive tool in epilepsy surgery. Wiley Periodicals, Inc. © 2013 International League Against Epilepsy.

  18. Video game epilepsy.

    Directory of Open Access Journals (Sweden)

    Singh R

    2001-10-01

    Full Text Available Reflex epilepsy is the commonest form of epilepsy in which seizures are provoked by specific external stimulus. Photosensitive reflex epilepsy is provoked by environmental flicker stimuli. Video game epilepsy is considered to be its variant or a pattern sensitive epilepsy. The mean age of onset is around puberty and boys suffer more commonly as they are more inclined to play video games. Television set or computer screen is the commonest precipitants. The treatment remains the removal of the offending stimulus along with drug therapy. Long term prognosis in these patients is better as photosensitivity gradually declines with increasing age. We present two such case of epilepsy induced by video game.

  19. Focal Transplantation of Human iPSC-Derived Glial-Rich Neural Progenitors Improves Lifespan of ALS Mice

    Directory of Open Access Journals (Sweden)

    Takayuki Kondo

    2014-08-01

    Full Text Available Transplantation of glial-rich neural progenitors has been demonstrated to attenuate motor neuron degeneration and disease progression in rodent models of mutant superoxide dismutase 1 (SOD1-mediated amyotrophic lateral sclerosis (ALS. However, translation of these results into a clinical setting requires a renewable human cell source. Here, we derived glial-rich neural progenitors from human iPSCs and transplanted them into the lumbar spinal cord of ALS mouse models. The transplanted cells differentiated into astrocytes, and the treated mouse group showed prolonged lifespan. Our data suggest a potential therapeutic mechanism via activation of AKT signal. The results demonstrated the efficacy of cell therapy for ALS by the use of human iPSCs as cell source.

  20. A young infant with musicogenic epilepsy.

    Science.gov (United States)

    Lin, Kuang-Lin; Wang, Huei-Shyong; Kao, Pan-Fu

    2003-05-01

    Musicogenic epilepsy is a relatively rare form of epilepsy. In its pure form, it is characterized by epileptic seizures that are provoked exclusively by listening to music. The usual type of seizure is partial complex or generalized tonic-clonic. Precipitating factors are quite specific, such as listening to only one composition or the actual playing of music on an instrument. However, simple sound also can be a trigger. We report a 6-month-old infant with musicogenic epilepsy. She manifested right-sided focal seizures with occasional generalization. The seizures were frequently triggered by loud music, especially that by the Beatles. The interictal electroencephalography results were normal. Ictal spikes were present throughout the left temporal area during continuous electroencephalograpic monitoring. Brain magnetic resonance imaging results were normal, whereas single-photon emission computed tomography of the brain revealed hypoperfusion of the left temporal area. The young age and epileptogenic left temporal lobe lesion in this patient with musicogenic epilepsy were unusual characteristics. Theoretically, three levels of integration are involved in music processing in the brain. The involved integration of this infant's brain may be the sensory level rather than the emotional level. Nevertheless, the personal musicality and musical style of the Beatles might play an important role in this patient's epilepsy.

  1. Psychosis of epilepsy: a multifaceted neuropsychiatric disorder.

    Science.gov (United States)

    Kanner, Andres M; Rivas-Grajales, Ana Maria

    2016-06-01

    Psychosis of epilepsy (POE) is a term applied to a group of psychotic disorders with a distinct phenomenology in which potential etiopathogenic mechanisms are believed to be closely related to a seizure disorder. POE can present as interictal psychotic episodes, which may often differ semiologically from primary schizophrenic disorder. They may present as ictal or postictal psychotic episodes and may be the expression of an iatrogenic process to pharmacologic and/or surgical interventions.Epilepsy and POE have a complex and bidirectional relation, as not only are patients with epilepsy at greater risk of developing a psychotic disorder, but patients with a primary psychotic disorder are also at greater risk of developing epilepsy. The prevalence of POE is more than 7 times higher than the frequency of primary schizophreniform disorders in the general population. While POE has been associated with focal epilepsy of temporal and frontal lobe origin, its etiology and pathophysiology of POE have yet to be established.The treatment of all forms of POE, with the exception of ictal psychotic episodes, requires the use of antipsychotic drugs, preferably the atypical antipsychotic agents with a very low or negligible potential to lower the seizure threshold (eg, risperidone, apiprazole), starting at a low dose with stepwise increments.

  2. [New aspects in the field of epilepsy].

    Science.gov (United States)

    Rosenow, F; Klein, K M; Strzelczyk, A; Hamer, H M; Menzler, K; Bauer, S; Knake, S

    2014-08-01

    Regarding epilepsy several new developments can be reported. The International League Against Epilepsy (ILAE) has suggested a new definition of epilepsy, for the first time including a definition of epilepsy resolution. Progress in the diagnosis relates to new genetic findings, improvements in magnetic resonance imaging (MRI) and the increasing use of stereo electroencephalograms (sEEG). Regarding treatment there are new clinically relevant data on the pathophysiology and prevention of sudden unexpected death in epilepsy (SUDEP). Zonisamide has been approved by the European Medicines Agency (EMA) for monotherapy in adults with focal seizures and combination therapy in children aged ≥ 6 years. Retigabin and perampanel have been approved but are currently taken off the market in Germany (only) because the Gemeinsamer Bundesausschuss (GBA, Joint Federal Committee) did not find any additional therapeutic value as compared to lamotrigine due to a lack of data. A decision regarding a new application for perampanel is pending. Regarding surgical treatment novel ablation techniques (e.g. stereotactic radiofrequency and laser ablation as well as focussed ultrasound ablation) and brain stimulation paradigms are under investigation. Experimental studies, generously supported by the European Union (EU) and the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) are focusing on (opto-)genetic (e.g. using lentoviral transfection), epigenetic (e.g. micro-RNA-related) approaches and on the investigation of neuronal micronetworks.

  3. Insular Epilepsy: Semiology and Noninvasive Investigations.

    Science.gov (United States)

    Obaid, Sami; Zerouali, Younes; Nguyen, Dang Khoa

    2017-07-01

    In this review, authors discuss the semiology and noninvasive investigations of insular epilepsy, an underrecognized type of epilepsy, which may mimic other focal epilepsies. In line with the various functions of the insula and its widespread network of connections, insular epilepsy may feature a variety of early ictal manifestations from somatosensory, visceral, olfactory, gustatory, or vestibular manifestations. Depending on propagation pathways, insular seizures may also include altered consciousness, dystonic posturing, complex motor behaviors, and even autonomic features. Considering the variability in seizure semiology, recognition of insular epilepsy may be challenging and confirmation by noninvasive tests is warranted although few studies have assessed their value. Detection of an insular lesion on MRI greatly facilitates the diagnosis. Scalp EEG findings in frontocentral and/or temporal derivations will generally allow lateralization of the seizure focus. Ictal single-photon computed tomography has moderate sensitivity, whereas positron emission tomography has lower sensitivity. Among newer techniques, magnetoencephalography is highly beneficial, whereas proton magnetic resonance spectroscopy currently has limited value.

  4. Prevalence and risk factors of seizure clusters in adult patients with epilepsy.

    Science.gov (United States)

    Chen, Baibing; Choi, Hyunmi; Hirsch, Lawrence J; Katz, Austen; Legge, Alexander; Wong, Rebecca A; Jiang, Alfred; Kato, Kenneth; Buchsbaum, Richard; Detyniecki, Kamil

    2017-07-01

    In the current study, we explored the prevalence of physician-confirmed seizure clusters. We also investigated potential clinical factors associated with the occurrence of seizure clusters overall and by epilepsy type. We reviewed medical records of 4116 adult (≥16years old) outpatients with epilepsy at our centers for documentation of seizure clusters. Variables including patient demographics, epilepsy details, medical and psychiatric history, AED history, and epilepsy risk factors were then tested against history of seizure clusters. Patients were then divided into focal epilepsy, idiopathic generalized epilepsy (IGE), or symptomatic generalized epilepsy (SGE), and the same analysis was run. Overall, seizure clusters were independently associated with earlier age of seizure onset, symptomatic generalized epilepsy (SGE), central nervous system (CNS) infection, cortical dysplasia, status epilepticus, absence of 1-year seizure freedom, and having failed 2 or more AEDs (Pseizure clusters than patients with focal epilepsy (16.3%) and IGE (7.4%; all Pepilepsy type showed that absence of 1-year seizure freedom since starting treatment at one of our centers was associated with seizure clustering in patients across all 3 epilepsy types. In patients with SGE, clusters were associated with perinatal/congenital brain injury. In patients with focal epilepsy, clusters were associated with younger age of seizure onset, complex partial seizures, cortical dysplasia, status epilepticus, CNS infection, and having failed 2 or more AEDs. In patients with IGE, clusters were associated with presence of an aura. Only 43.5% of patients with seizure clusters were prescribed rescue medications. Patients with intractable epilepsy are at a higher risk of developing seizure clusters. Factors such as having SGE, CNS infection, cortical dysplasia, status epilepticus or an early seizure onset, can also independently increase one's chance of having seizure clusters. Copyright © 2017. Published

  5. International Veterinary Epilepsy Task Force consensus report on epilepsy definition, classification and terminology in companion animals

    DEFF Research Database (Denmark)

    Berendt, Mette; Farquhar, Robyn G; Mandigers, Paul J J;

    2015-01-01

    Dogs with epilepsy are among the commonest neurological patients in veterinary practice and therefore have historically attracted much attention with regard to definitions, clinical approach and management. A number of classification proposals for canine epilepsy have been published during...... the years reflecting always in parts the current proposals coming from the human epilepsy organisation the International League Against Epilepsy (ILAE). It has however not been possible to gain agreed consensus, "a common language", for the classification and terminology used between veterinary and human...... neurologists and neuroscientists, practitioners, neuropharmacologists and neuropathologists. This has led to an unfortunate situation where different veterinary publications and textbook chapters on epilepsy merely reflect individual author preferences with respect to terminology, which can be confusing...

  6. Familial epilepsy in Algeria: Clinical features and inheritance profiles.

    Science.gov (United States)

    Chentouf, Amina; Dahdouh, Aïcha; Guipponi, Michel; Oubaiche, Mohand Laïd; Chaouch, Malika; Hamamy, Hanan; Antonarakis, Stylianos E

    2015-09-01

    To document the clinical characteristics and inheritance pattern of epilepsy in multigeneration Algerian families. Affected members from extended families with familial epilepsy were assessed at the University Hospital of Oran in Algeria. Available medical records, neurological examination, electroencephalography and imaging data were reviewed. The epilepsy type was classified according to the criteria of the International League Against Epilepsy and modes of inheritance were deduced from pedigree analysis. The study population included 40 probands; 23 male (57.5%) and 17 female subjects (42.5%). The mean age of seizure onset was 9.5 ± 6.1 years. According to seizure onset, 16 patients (40%) had focal seizures and 20 (50%) had generalized seizures. Seizure control was achieved for two patients (5%) for 10 years, while 28 (70%) were seizure-free for 3 months. Eleven patients (27.5%) had prior febrile seizures, 12 were diagnosed with psychiatric disorders and four families had syndromic epilepsy. The consanguinity rate among parents of affected was 50% with phenotypic concordance observed in 25 families (62.5%). Pedigree analysis suggested autosomal dominant (AD) inheritance with or without reduced penetrance in 18 families (45%), probable autosomal recessive (AR) inheritance in 14 families (35%), and an X-linked recessive inheritance in one family. This study reveals large Algerian families with multigenerational inheritance of epilepsy. Molecular testing such as exome sequencing would clarify the genetic basis of epilepsy in some of our families. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  7. Management in refractory epilepsy: Beyond epilepsy surgery...

    Directory of Open Access Journals (Sweden)

    Roop Gursahani

    2008-01-01

    Full Text Available Although definititions of refractory epilepsy vary, about 40% of prevalent cases of epilepsy are not controlled by anti-epileptic drugs. A substantial proportion of this population requires palliative therapy since only a minority are candidates for epilepsy surgery. Drug therapy can be optimised after accurate classification of the epilepsy. Monotherapy is often as effective as polytherapy with fewer adverse effects. Depression and CNS adverse effects significantly impact quality of life and must be systematically screened for and treated. The ketogenic diet and vagal nerve stimulation provide substantial seizure control in a significant number of cases and may be used synergistically. Deep brain stimulation is another promising modality.

  8. Pathogenetic mechanisms of focal cortical dysplasia.

    Science.gov (United States)

    Marin-Valencia, Isaac; Guerrini, Renzo; Gleeson, Joseph G

    2014-07-01

    Focal cortical dysplasias (FCDs) constitute a prevalent cause of intractable epilepsy in children, and is one of the leading conditions requiring epilepsy surgery. Despite recent advances in the cellular and molecular biology of these conditions, the pathogenetic mechanisms of FCDs remain largely unknown. The purpose if this work is to review the molecular underpinnings of FCDs and to highlight potential therapeutic targets. A systematic review of the literature regarding the histologic, molecular, and electrophysiologic aspects of FCDs was conducted. Disruption of the mammalian target of rapamycin (mTOR) signaling comprises a common pathway underlying the structural and electrical disturbances of some FCDs. Other mechanisms such as viral infections, prematurity, head trauma, and brain tumors are also posited. mTOR inhibitors (i.e., rapamycin) have shown positive results on seizure management in animal models and in a small cohort of patients with FCD. Encouraging progress has been achieved on the molecular and electrophysiologic basis of constitutive cells in the dysplastic tissue. Despite the promising results of mTOR inhibitors, large-scale randomized trials are in need to evaluate their efficacy and side effects, along with additional mechanistic studies for the development of novel, molecular-based diagnostic and therapeutic approaches. Wiley Periodicals, Inc. © 2014 International League Against Epilepsy.

  9. [Clinical presentations of the secondary bilateral synchronization syndrome in adults with epilepsy].

    Science.gov (United States)

    Fedin, A I; Generalov, V O; Amcheslavskaia, E V; Mishniakova, L P; Sadykov, T R

    2008-01-01

    One thousand eight hundreds and eighty patients with symptomatic and cryptogenic forms of focal epilepsy have been studied. Ninety patients (4.7%) had the secondary bilateral synchronization (SBS) syndrome in the EEG. Criteria of the syndrome are the presence of focal epileptiform activity in the EEG and SBS detected during the long-term video-EEG monitoring. In this group of patients, secondary generalized tonic-clonic, myoclonic and complex partial seizures were found. The clinical presentations of focal epilepsy were similar to the syndromes of idiopathic epilepsy in most cases. Long-term video-EEG monitoring is a method of choice in the instrumental diagnostics of these forms of epilepsy which are different in genesis and prognosis but similar in the kinematic characteristics.

  10. Focal adhesion kinase activation is required for TNF-α-induced production of matrix metalloproteinase-2 and proinflammatory cytokines in cultured human periodontal ligament fibroblasts.

    Science.gov (United States)

    Zhang, Peng; Li, Ya-jing; Guo, Liu-yun; Wang, Guo-fang; Lu, Ke; Yue, Er-li

    2015-08-01

    Since focal adhesion kinase (FAK) was proposed as a mediator of the inflammatory response, we have investigated the role of this molecule in the release of inflammatory cytokines by cultured human periodontal ligament fibroblasts (HPDLFs), cells that are thought to be important in the patient's response to periodontal infection. Human periodontal ligament fibroblasts were stimulated by tumor necrosis factor alpha (TNF-α) and its effects on interleukin (IL)-6 and IL-8 release were measured by ELISA. Expression of matrix metalloproteinase 2 (MMP-2) protein was analysed by western blotting. The levels of IL6, IL8, and MMP2 mRNA were evaluated by real-time PCR. Tumor necrosis factor alpha dose-dependently induced the phosphorylation of FAK, whereas small interfering FAK (siFAK) inhibited TNF-α-induced FAK phosphorylation. Tumor necrosis factor alpha also stimulated the production of IL-6, IL-8, and MMP-2 in a dose-dependent manner. Knockdown of FAK significantly suppressed TNF-α-induced expression of IL6 and IL8 mRNA and release of IL-6 and IL-8 protein in HPDLFs. Similarly, MMP-2 down-regulation was significantly prevented by siFAK. Our results strongly suggest that knockdown of FAK can decrease the production of TNF-α-induced IL-6, IL-8, and MMP-2 in HPDLFs. These effects may help in understanding the mechanisms that control expression of inflammatory cytokines in the pathogenesis of periodontitis.

  11. Activation of focal adhesion kinase enhances the adhesion of Fusarium solani to human corneal epithelial cells via the tyrosine-specific protein kinase signaling pathway.

    Science.gov (United States)

    Pan, Xiaojing; Wang, Ye; Zhou, Qingjun; Chen, Peng; Xu, Yuanyuan; Chen, Hao; Xie, Lixin

    2011-03-05

    To determine the role of the integrin-FAK signaling pathway triggered by the adherence of F. solani to human corneal epithelial cells (HCECs). After pretreatment with/without genistein, HCECs were incubated with F. solani spores at different times (0-24 h). Cell adhesion assays were performed by optical microscopy. Changes of the ultrastructure were observed using scanning electron microscopy (SEM) and transmission electron microscopy (TEM). The expression of F-actin and Paxillin (PAX) were detected by immunofluorescence and western blotting to detect the expression of these key proteins with/without genistein treatment. Cell adhesion assays showed that the number of adhered spores began to rise at 6 h after incubation and peaked at 8 h. SEM and TEM showed that the HCECs exhibited a marked morphological alteration induced by the attachment and entry of the spores. The expression of PAX increased, while the expression of F-actin decreased by stimulation with F. solani. The interaction of F. solani with HCECs causes actin rearrangement in HCECs. Genistein strongly inhibited FAK phosphorylation and the activation of the downstream protein (PAX). F. solani-induced enhancement of cell adhesion ability was inhibited along with the inhibition of FAK phosphorylation. Our results suggest that the integrin-FAK signaling pathway is involved in the control of F. solani adhesion to HCECs and that the activation of focal adhesion kinase enhances the adhesion of human corneal epithelial cells to F. solani via the tyrosine-specific protein kinase signaling pathway.

  12. Unexpected marked seizure improvement in paediatric epilepsy surgery candidates.

    Science.gov (United States)

    Hoei-Hansen, Christina E; Mathiasen, René; Uldall, Peter

    2017-02-01

    Epilepsy surgery is performed based on the assumption that medical refractory epilepsy will continue. Rarely seizure freedom occurs before surgery is performed, while the patient is being evaluated as an epilepsy surgery candidate. The aim of this study was to describe the number of children withdrawn from an epilepsy surgery programme due to unexpected seizure improvement. We retrospectively studied 173 children under 18 years with medical refractory epilepsy referred for epilepsy surgery between 1996 and 2010. Medical records were reviewed in 2012 and 2015. At the first evaluation point in 2012, 13 patients were withdrawn from the epilepsy surgery programme due to unexpected marked improvement. In 2015, 6 of them were still seizure free. They had unexpected seizure freedom due to change in AED treatment (n=3) or after a febrile episode (n=3). The mean number of years they had had seizures was 3.4 years (range 0.6-6.2 years) and the number of seizures at inclusion was 209 per month (range 6-750 per month). The duration of follow-up was 6.6 years after inclusion into the epilepsy surgery programme (range 4.0-13.0 years). The aetiology of the epilepsy for these patients was heterotopia (n=1), focal cortical dysplasia (n=3), infarction (n=1) and unknown, with normal MRI (n=1). They all had an IQ in the normal range. Two of the remaining 7 children were operated later. Unexpected seizure control may occur during epilepsy surgery evaluation. Copyright © 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  13. Beamlet focal plane diagnostic

    Energy Technology Data Exchange (ETDEWEB)

    Caird, J.A.; Nielsen, N.D.; Patton, H.G.; Seppala, L.G.; Thompson, C.E.; Wegner, P.J.

    1996-12-01

    This paper describes the major optical and mechanical design features of the Beamlet Focal Plane Diagnostic system as well as measurements of the system performance, and typical data obtained to date. We also discuss the NIF requirements on the focal spot that we are interested in measuring, and some of our plans for future work using this system.

  14. Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.

    Science.gov (United States)

    Allen, Nicholas M; Conroy, Judith; Deonna, Thierry; McCreary, Dara; McGettigan, Paul; Madigan, Cathy; Carter, Imogen; Ennis, Sean; Lynch, Sally A; Shahwan, Amre; King, Mary D

    2016-01-01

    Atypical benign partial epilepsy (ABPE) of childhood or pseudo-Lennox syndrome is a form of idiopathic focal epilepsy characterized by multiple seizure types, focal and/or generalized epileptiform discharges, continuous spike-wave during sleep (CSWS), and sometimes reversible neurocognitive deficits. There are few reported cases of ABPE describing detailed correlative longitudinal follow-up of the various associated neurocognitive, language, social communicative, or motor deficits, in parallel with the epilepsy. Furthermore, the molecular inheritance pattern for ABPE and the wider spectrum of epilepsy aphasia disorders have yet to be fully elucidated. We describe the phenotype-genotype study of a boy with ABPE with follow-up from ages 5 to 13 years showing acquired oromotor and, later, a specific lexical semantic and pervasive developmental disorder. Exome sequencing identified variants in SCN9A, CPA6, and SCNM1. A direct role of the epilepsy in the pathogenesis of the oromotor and neurocognitive deficits is apparent.

  15. Investigation of GRIN2A in common epilepsy phenotypes

    NARCIS (Netherlands)

    Lal, Dennis; Steinbrücker, Sandra; Schubert, Julian; Sander, Thomas; Becker, Felicitas; Weber, Yvonne; Lerche, Holger; Thiele, Holger; Krause, Roland; Lehesjoki, Anna Elina; Nürnberg, Peter; Palotie, Aarno; Neubauer, Bernd A.; Muhle, Hiltrud; Stephani, Ulrich; Helbig, Ingo; Becker, Albert J.; Schoch, Susanne; Hansen, Jörg; Dorn, Thomas; Hohl, Christin; Lüscher, Nicole; von Spiczak, Sarah; Lemke, Johannes R.; Zimprich, Fritz; Feucht, Martha; Suls, Arvid; Weckhuysen, Sarah; Claes, Lieve; Deprez, Liesbet; Smets, Katrien; Dyck, Tine Van; Deconinck, Tine; De Jonghe, Peter; Møller, Rikke S.; Klitten, Laura L.; Hjalgrim, Helle; Campus, Kiel; Ostertag, Philipp; Trucks, Hol ger; Elger, Christian E.; Kleefuß-Lie, Ailing A.; Kunz, Wolfram S.; Surges, Rainer; Gaus, Verena; Janz, Dieter; Schmitz, Bettina; Klein, Karl Martin; Reif, Philipp S.; Oertel, Wolfgang H.; Hamer, Hajo M.; Rosenow, Felix; Kapser, Claudia; Schankin, Christoph J.; Koeleman, Bobby P C; de Kovel, Carolien; Lindhout, Dick; Reinthaler, Eva M.; Steinboeck, Hannelore; Neo-phytou, Birgit; Geldner, Julia; Gruber-Sedlmayr, Ursula; Haberlandt, Edda; Ronen, Gabriel M.; Altmueller, Janine; Nuernberg, Peter; Neubauer, Bernd; Sirén, Auli

    2015-01-01

    Recently, mutations and deletions in the GRIN2A gene have been identified to predispose to benign and severe idiopathic focal epilepsies (IFE), revealing a higher incidence of GRIN2A alterations among the more severe phenotypes. This study aimed to explore the phenotypic boundaries of GRIN2A mutatio

  16. Genetic models of absence epilepsy: New concepts and insights

    NARCIS (Netherlands)

    Luijtelaar, E.L.J.M. van; Coenen, A.M.L.

    2009-01-01

    The discovery, development, and use of genetic rodent models of absence epilepsy have led to a new theory about the origin of absence seizures. A focal zone has been identified in the peri-oral region of the somatosensory cortex in WAG/Rij and GAERS – the two most commonly used models – from which

  17. The human papillomavirus E6 oncogene represses a cell adhesion pathway and disrupts focal adhesion through degradation of TAp63β upon transformation.

    Directory of Open Access Journals (Sweden)

    Youcef Ben Khalifa

    2011-09-01

    Full Text Available Cervical carcinomas result from cellular transformation by the human papillomavirus (HPV E6 and E7 oncogenes which are constitutively expressed in cancer cells. The E6 oncogene degrades p53 thereby modulating a large set of p53 target genes as shown previously in the cervical carcinoma cell line HeLa. Here we show that the TAp63β isoform of the p63 transcription factor is also a target of E6. The p63 gene plays an essential role in skin homeostasis and is expressed as at least six isoforms. One of these isoforms, ΔNp63α, has been found overexpressed in squamous cell carcinomas and is shown here to be constitutively expressed in Caski cells associated with HPV16. We therefore explored the role of p63 in these cells by performing microarray analyses after repression of endogenous E6/E7 expression. Upon repression of the oncogenes, a large set of p53 target genes was found activated together with many p63 target genes related to cell adhesion. However, through siRNA silencing and ectopic expression of various p63 isoforms we demonstrated that TAp63β is involved in activation of this cell adhesion pathway instead of the constitutively expressed ΔNp63α and β. Furthermore, we showed in cotransfection experiments, combined with E6AP siRNA silencing, that E6 induces an accelerated degradation of TAp63β although not through the E6AP ubiquitin ligase used for degradation of p53. Repression of E6 transcription also induces stabilization of endogenous TAp63β in cervical carcinoma cells that lead to an increased concentration of focal adhesions at the cell surface. Consequently, TAp63β is the only p63 isoform suppressed by E6 in cervical carcinoma as demonstrated previously for p53. Down-modulation of focal adhesions through disruption of TAp63β therefore appears as a novel E6-dependent pathway in transformation. These findings identify a major physiological role for TAp63β in anchorage independent growth that might represent a new critical

  18. Epilepsy and violence: case series concerning physical trauma in children of persons with epilepsy

    Science.gov (United States)

    Gauffin, Helena; Landtblom, Anne-Marie

    2014-01-01

    Historically, epilepsy has been associated with violence, but more recent studies have emphasized genetic and psychosocial factors as more important. The case series presented here aim to highlight the difficult situation the affected children are in. We report on three cases when children have been traumatized and, in one case, even been killed by their parent who was diagnosed with epilepsy. In the first case, we describe a woman with juvenile myoclonic epilepsy who was sentenced to forensic psychiatry care for killing her child. She lived under difficult psychosocial circumstances and a suicide attempt contributed to what happened. The second case describes a man with post-traumatic seizures who was sentenced for child abuse. Ictal or postictal violence was considered in these two cases but a causal link between the violence and epilepsy has not been established. In the third case, we describe a woman with focal epilepsy and psychogenic non-epileptic seizures (PNESs). Her child was hurt and frightened in relation to violent seizures, which were regarded as PNESs. This case series demonstrates that children of parents with epilepsy can be in a vulnerable situation. No causality has been established between the seizures and these events, so consequently other factors such as psychosocial stress, low cognitive function, and a suicide attempt must also be considered as important. When a child is hurt by a parent with epilepsy the patient must be closely examined to determine the role of the seizures. Children can also be affected by PNESs. It is essential to notice especially those children of parents with epilepsy who live under difficult psychosocial circumstances and offer extra support when necessary. PMID:25484586

  19. Neuroimaging in epilepsy

    Directory of Open Access Journals (Sweden)

    Shahina Bano

    2011-01-01

    Full Text Available Epilepsy is the most common neurological disease worldwide and is second only to stroke in causing neurological morbidity. Neuroimaging plays a very important role in the diagnosis and treatment of patients with epilepsy. This review article highlights the specific role of various imaging modalities in patients with epilepsy, and their practical applications in the management of epileptic patients.

  20. Epilepsy is a disease!

    Directory of Open Access Journals (Sweden)

    Walter Oleschko Arruda

    1994-12-01

    Full Text Available According to the definition of disease, epilepsy shall not be considered neither a symptom nor a syndrome. Epilepsy is a generic term for a group of diseases characterized by seizures. It implies a state quite distinct from health. Therefore it seems worthy to keep epilepsy as such in the International Classification of Diseases (ICD.

  1. Photoacoustic Imaging of Epilepsy

    Science.gov (United States)

    2014-04-01

    formulae for the spherical mean radon transform,” Inverse Probl. 23(1), 373–383 (2007). 5. D. Finch, S. Patch, and Rakesh, “Determining a Function from...Vickrey, B.G., 2007. Stopping antiepileptic drugs after epilepsy surgery: a survey of U.S. epilepsy center neurologists. Epilepsy Behav. 10, 219– 222

  2. Potential use and challenges of functional connectivity mapping in intractable epilepsy

    Directory of Open Access Journals (Sweden)

    Robert Todd Constable

    2013-05-01

    Full Text Available This review focuses on the use of resting-state functional magnetic resonance imaging data to assess functional connectivity in the human brain for surgical planning in intractable epilepsy. This approach has the potential to predict outcomes for a given surgical procedure based on the pre-surgical functional organization of the brain. Functional connectivity can also identify cortical regions that are organized differently in epilepsy patients either as a direct function of the disease or through indirect compensatory responses. Functional connectivity mapping can also potentially help identify epileptogenic tissue, whether this is a single focal location or a network of seizure-generating tissues and this information can assist in guiding the implantation of electrodes for invasive monitoring. This review covers the basics of connectivity analysis and discusses particular issues associated with analyzing such data. These issues include how to define nodes, as well as differences between connectivity analyses of individual nodes, groups of nodes, and whole-brain assessment at the voxel level. The need for arbitrary thresholds in some connectivity analyses is discussed and a solution to this problem is reviewed. Overall, functional connectivity analysis is becoming an important tool for assessing functional brain organization in surgical planning in epilepsy.

  3. Pharmacoresistant temporal lobe epilepsy modifies histamine turnover and H3 receptor function in the human hippocampus and temporal neocortex.

    Science.gov (United States)

    Bañuelos-Cabrera, Ivette; Cuéllar-Herrera, Manola; Velasco, Ana Luisa; Velasco, Francisco; Alonso-Vanegas, Mario; Carmona, Francia; Guevara, Rosalinda; Arias-Montaño, José-Antonio; Rocha, Luisa

    2016-04-01

    Experiments were designed to evaluate the tissue content of tele-methylhistamine (t-MeHA) and histamine as well as H3 receptor (H3 Rs) binding and activation of the heterotrimeric guanine nucleotide binding αi/o proteins (Gαi/o) coupled to these receptors in the hippocampus and temporal neocortex of patients (n = 10) with pharmacoresistant mesial temporal lobe epilepsy (MTLE). Patients with MTLE showed elevated tissue content of t-MeHA in the hippocampus. Analyses revealed that a younger age at seizure onset was correlated with a higher tissue content of t-MeHA, lower H3 R binding, and lower efficacy of Gαi/o protein activation in the hippocampus. We conclude that the hippocampus shows a reduction in the H3 R function associated with enhanced histamine. In contrast, the temporal neocortex displayed a high efficacy of H3 Rs Gαi/o protein activation that was associated with low tissue contents of histamine and t-MeHA. These results indicate an overactivation of H3 Rs leading to decreased histamine in the temporal neocortex. However, this situation was lessened in circumstances such as a longer duration of epilepsy or higher seizure frequency. It is concluded that decrease in H3 Rs function and enhanced levels of histamine may contribute to the epileptic activity in the hippocampus and temporal neocortex of patients with pharmacoresistant MTLE.

  4. Advances of molecular imaging in epilepsy

    OpenAIRE

    Galovic, M.; Koepp, M.

    2016-01-01

    Positron emission tomography (PET) is a neuroimaging method that offers insights into the molecular functioning of a human brain. It has been widely used to study metabolic and neurotransmitter abnormalities in people with epilepsy. This article reviews the development of several PET radioligands and their application in studying the molecular mechanisms of epilepsy. Over the last decade, tracers binding to serotonin and γ-aminobutyric acid (GABA) receptors have been used to delineate the loc...

  5. Advances of Molecular Imaging in Epilepsy

    OpenAIRE

    Galovic, Marian; Koepp, Matthias

    2016-01-01

    Positron emission tomography (PET) is a neuroimaging method that offers insights into the molecular functioning of a human brain. It has been widely used to study metabolic and neurotransmitter abnormalities in people with epilepsy. This article reviews the development of several PET radioligands and their application in studying the molecular mechanisms of epilepsy. Over the last decade, tracers binding to serotonin and γ-aminobutyric acid (GABA) receptors have been used to delineate the loc...

  6. Focal epithelial hyperplasia by human papillomavirus (HPV)-32 misdiagnosed as HPV-16 and treated with combination of retinoids, imiquimod and quadrivalent HPV vaccine.

    Science.gov (United States)

    Gemigniani, Franco; Hernández-Losa, Javier; Ferrer, Berta; García-Patos, Vicente

    2015-12-01

    Focal epithelial hyperplasia (FEH) or Heck's disease is a rare, benign and asymptomatic mucosal proliferation associated with human papillomavirus (HPV) infection, mainly with genotypes 13 and 32. We report a florid case of FEH in an 11-year-old Haitian girl with systemic lupus erythematosus receiving immunosuppressive therapy. Cryotherapy was previously performed on numerous occasions with no results. We decided to prescribe a non-invasive and more comfortable treatment. A combination of topical retinoid and imiquimod cream was well tolerated and led to an important improvement. The evidence of infection by HPV-16 detected by polymerase chain reaction (PCR) technique, prompted us to prescribe the quadrivalent HPV vaccine (types 6, 11,16 and 18). Subsequent PCR sequencing with generic primers GP5-GP6 and further BLAST comparative analysis confirmed that genomic viral sequence in our case truly corresponded with HPV-32. This molecular misdiagnosis can be explained by the similarity between genomic sequences of both HPV-16 and -32 genotypes. At the 1-year follow up, we observed total clinical improvement and no recurrences of the disease. Complete healing in this case may correspond to a potential action of topical retinoid, imiquimod and the cross-protection mechanism of the quadrivalent HPV vaccine.

  7. De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia

    DEFF Research Database (Denmark)

    Tos, T; Alp, M Y; Karacan, C D

    2014-01-01

    In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild facial dysmorphism, epilepsy, abnormal EEG and brain MRI findings consistent with focal cortical dysplasia. Interstitial......). Combination of epilepsy, abnormal EEG and brain MRI findings are not reported before....

  8. Bimaxillary Oral Focal Mucinosis.

    Science.gov (United States)

    Yadav, Sunil; Malik, Sunita; Mittal, Hitesh Chander; Singh, Gurdarshan; Kamra, Hemlata

    2016-10-01

    Oral focal mucinosis is considered as oral counterpart of cutaneous focal mucinosis. The preoperative diagnosis of mucinosis is almost impossible because of its rarity and clinical similarity to other lesions of various etiologies. The histological diagnosis of oral mucinosis is important to better understand the etiopathogenesis, treatment modalities, and any recurrence of the lesion besides differentiating from the other soft tissue lesions.The purpose of this paper is to report the first case of bimaxillary involvement with dome-shaped elevated, rounded, asymptomatic, normally colored swelling in left posterior palatal mucosa and left mandibular posterior region in a 25-year old woman who was diagnosed as oral focal mucinosis histopathologically.

  9. Dental injury during seizures associated with juvenile myoclonic epilepsy.

    Science.gov (United States)

    Thomas, R H; Higgins, S; Fuller, G N

    2009-01-01

    Patients can sustain injuries during seizures and the pattern and type of injury (eg, tongue biting) can be a useful silent witness in the diagnosis of seizures. In addition, the seizure type potentially influences the type of injury. Patients with dental injury were identified from the Gloucestershire Epilepsy Database (n = 1673). These patients' notes were reviewed and the following data collected: demographic data; seizure types and age of onset; injury; EEG; and MRI. 14 people had dental injuries: 10 incisors (seven had >1 incisor) and five other teeth. Eight had juvenile myoclonic epilepsy (JME), two other primary generalised epilepsy and four focal onset epilepsy. Compared with the rest of the database population (JME; n = 81) there was a highly significant association of dental injury with JME (pseizure onset. This pattern of injury should prompt consideration of this diagnosis. It is hoped that recognition of this can both facilitate earlier diagnosis and help educate patients to protect their teeth.

  10. RBFOX1 and RBFOX3 mutations in rolandic epilepsy

    DEFF Research Database (Denmark)

    Lal, Dennis; Reinthaler, Eva M; Altmüller, Janine

    2013-01-01

    Partial deletions of the gene encoding the neuronal splicing regulator RBFOX1 have been reported in a range of neurodevelopmental diseases, including idiopathic generalized epilepsy. The RBFOX1 protein and its homologues (RBFOX2 and RBFOX3) regulate alternative splicing of many neuronal transcripts...... involved in the homeostatic control of neuronal excitability. In this study, we explored if structural microdeletions and exonic sequence variations in RBFOX1, RBFOX2, RBFOX3 confer susceptibility to rolandic epilepsy (RE), a common idiopathic focal childhood epilepsy. By high-density SNP array screening...... that exon deletions and truncating mutations of RBFOX1 and RBFOX3 contribute to the genetic variance of partial and generalized idiopathic epilepsy syndromes....

  11. [Multiple sclerosis and epilepsy. An analysis of 14 case histories].

    Science.gov (United States)

    Büttner, T; Hornig, C R; Dorndorf, W

    1989-05-01

    Fourteen of 330 patients with the clinical and laboratory supported definite diagnosis of Multiple Sklerose (MS) had epileptic seizures. The epilepsy of six patients probably originates from the MS. Four patients respectively suffered from genuin epilepsy or symptomatic epilepsy caused by other diseases than the MS. Most patients had GM, two GM and focal motor fits and one uncinatus fits. An epileptic focus in the EEG was evident in two patients. MRI- and CCT-scans frequently showed extensive cortex-neighboured lesions and multiple subcortical demyelination, especially localized in the temporal lobe. Epileptic seizures as a symptom of MS are very seldom. The longer the interval from the first episode of the MS to the first epileptic seizure the more probable epilepsy is caused by other reasons than the MS.

  12. An uncommon focal epithelial hyperplasia manifestation.

    Science.gov (United States)

    dos Santos-Pinto, Lourdes; Giro, Elisa Maria Aparecida; Pansani, Cyneu Aguiar; Ferrari, Junia; Massucato, Elaine Maria Sgavioli; Spolidório, Luis Carlos

    2009-01-01

    Focal epithelial hyperplasia is a rare, contagious disease associated with infection of the oral mucosa by human papillomavirus types 13 or 32, characterized by multiple soft papules of the same color as the adjacent normal mucosa. It mainly affects the lower lip, buccal mucosa, and tongue. The purpose of this case report was to describe a rare verrucal lesion located in the upper gingiva that was clinically and histologically consistent with focal epithelial hyperplasia.

  13. Epilepsy and Mood Disorders

    Directory of Open Access Journals (Sweden)

    Sermin Kesebir

    2012-03-01

    Full Text Available Mood disorders are the most common psychiatric comorbid disorder that affects quality of life and prognosis in epilepsy. The relation between depression and epilepsy is bidirectional. Not only the risk of having a depression among epilepsy cases is more than the healthy control cases, but also the risk of having epilepsy among depressive cases is more than the healthy control cases. People diagnosed with epilepsy are five times more likely than their peers to commit suicide. Moreover it seems that some epilepsy types like temporal lobe epilepsy have a much higher risk (25 times for suicide. Risk of suicide in epilepsy, which is independent from depression, increases more with the presence of depression. The common pathway between epilepsy, depression and suicide is hypofrontality and irregularity of serotonin metabolism. Contrary to depression, data on relationship between bipolar disorder and epilepsy is limited. However, mood disorder, mixed episodes with irritable character and mania are more frequent than assumed. As a matter of fact, both disorders share some common features. Both are episodic and can become chronic. Kindling phenomenon, irregularities in neurotransmitters, irregularities in voltage gate ion channels and irregularities in secondary messenger systems are variables that are presented in the etiologies of both disorders. Anticonvulsant drugs with mood regulatory effects are the common points of treatment. Understanding their mechanisms of action will clarify the pathophysiological processes. In this article, the relationhip between epilepsy and mood disorders, comorbidity, secondary states and treatment options in both cases have been discussed.

  14. Epilepsy in children.

    Science.gov (United States)

    Arnold, S T; Dodson, W E

    1996-12-01

    Childhood epilepsies comprise a broad range of disorders which vary from benign to progressive and disabling. Accurate diagnosis of epilepsy type and determination of aetiology, when possible, are essential for appropriate treatment. The most common seizure type encountered in children is febrile seizures. These represent a benign condition which is not, in fact, epilepsy and usually does not require antiepileptic medication. When partial seizures occur in childhood, benign syndromes with spontaneous remission, such as rolandic epilepsy, must be distinguished from symptomatic epilepsies which may be refractory to medical management. Complex partial seizures in young children may appear different than in adults. The adverse effect profiles and dosing regimens of antiepileptic drugs in children are also different than in adults, and influence the choice of treatment. Epilepsy surgery should be considered for some children with intractible partial seizures. Generalized epilepsies also have a broader spectrum in children. The idiopathic generalized absence epilepsies are usually easy to control with medication. They range from childhood absence epilepsy which tends to remit in adolescence to juvenile myoclonic epilepsy which is a lifelong condition. In contrast, the seizures of West syndrome and Lennox-Gastaut syndrome are difficult to control, and treatment involves therapeutic modalities rarely used in adults such as ACTH and the ketogenic diet. Many childhood epilepsy syndromes have a familial predisposition, and the genetic bases for several disorders have been described.

  15. Ego functions in epilepsy

    DEFF Research Database (Denmark)

    Sørensen, A S; Hansen, H; Høgenhaven, H

    1988-01-01

    served as controls: 15 patients with a non-neurological but relapsing disorder, psoriasis, and 15 healthy volunteers. Compared with the group of healthy volunteers, a decreased adaptive level of ego functioning was found in the epilepsy groups, regardless of seizure types and EEG findings, and......Two groups of epilepsy patients (28 patients with temporal lobe epilepsy and 15 patients with primary generalized epilepsy) entered a study of personality traits related to epilepsy, based on a modification of Bellak's semistructured interview for assessment of ego strength. Two groups of subjects...... than 15 years when the disease began. The number of anticonvulsants administered did not influence the results. No difference on adaptive level of ego functioning was found between the group with primary generalized epilepsy and the group with temporal lobe epilepsy. Similarly, the temporal lobe...

  16. Application of Entropy Measures on Intrinsic Mode Functions for the Automated Identification of Focal Electroencephalogram Signals

    Directory of Open Access Journals (Sweden)

    Rajeev Sharma

    2015-02-01

    Full Text Available The brain is a complex structure made up of interconnected neurons, and its electrical activities can be evaluated using electroencephalogram (EEG signals. The characteristics of the brain area affected by partial epilepsy can be studied using focal and non-focal EEG signals. In this work, a method for the classification of focal and non-focal EEG signals is presented using entropy measures. These entropy measures can be useful in assessing the nonlinear interrelation and complexity of focal and non-focal EEG signals. These EEG signals are first decomposed using the empirical mode decomposition (EMD method to extract intrinsic mode functions (IMFs. The entropy features, namely, average Shannon entropy (ShEnAvg, average Renyi’s entropy (RenEnAvg , average approximate entropy (ApEnAvg, average sample entropy (SpEnAvg and average phase entropies (S1Avg and S2Avg, are computed from different IMFs of focal and non-focal EEG signals. These entropies are used as the input feature set for the least squares support vector machine (LS-SVM classifier to classify into focal and non-focal EEG signals. Experimental results show that our proposed method is able to differentiate the focal and non-focal EEG signals with an average classification accuracy of 87% correct.

  17. 7 tesla T2*-weighted MRI as a tool to improve detection of focal cortical dysplasia.

    Science.gov (United States)

    Veersema, Tim J; van Eijsden, Pieter; Gosselaar, Peter H; Hendrikse, Jeroen; Zwanenburg, Jaco J M; Spliet, Wim G M; Aronica, Eleonora; Braun, Kees P J; Ferrier, Cyrille H

    2016-09-01

    Focal cortical dysplasia is one of the most common underlying pathologies in patients who undergo surgery for refractory epilepsy. Absence of a MRI-visible lesion necessitates additional diagnostic tests and is a predictor of poor surgical outcome. We describe a series of six patients with refractory epilepsy due to histopathologically-confirmed focal cortical dysplasia, for whom pre-surgical 7 tesla T2*-weighted MRI was acquired. In four of six patients, T2* sequences showed areas of marked superficial hypointensity, co-localizing with the epileptogenic lesion. 7 tesla T2* hypointensities overlying focal cortical dysplasia may represent leptomeningeal venous vascular abnormalities associated with the underlying dysplastic cortex. Adding T2* sequences to the MRI protocol may aid in the detection of focal cortical dysplasias.

  18. Focal neurological deficits

    Science.gov (United States)

    ... Other examples of focal loss of function include: Horner syndrome : small pupil on one side, one-sided ... 403. Read More Alertness - decreased Fine motor control Horner syndrome Hypotonia Movement - uncoordinated Muscle function loss Neurologic ...

  19. Genetics Home Reference: familial focal epilepsy with variable foci

    Science.gov (United States)

    ... Med Genet. 2016 Aug;53(8):503-10. doi: 10.1136/jmedgenet-2016-103883. Review. Citation on PubMed Baulac S, Ishida S, Marsan E, Miquel C, Biraben A, Nguyen DK, Nordli D, Cossette P, ... 2015 Apr;77(4):675-83. doi: 10.1002/ana.24368. Epub 2015 Mar 13. ...

  20. A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

    Science.gov (United States)

    Singh, Nanda A; Pappas, Chris; Dahle, E Jill; Claes, Lieve R F; Pruess, Timothy H; De Jonghe, Peter; Thompson, Joel; Dixon, Missy; Gurnett, Christina; Peiffer, Andy; White, H Steve; Filloux, Francis; Leppert, Mark F

    2009-09-01

    A follow-up study of a large Utah family with significant linkage to chromosome 2q24 led us to identify a new febrile seizure (FS) gene, SCN9A encoding Na(v)1.7. In 21 affected members, we uncovered a potential mutation in a highly conserved amino acid, p.N641Y, in the large cytoplasmic loop between transmembrane domains I and II that was absent from 586 ethnically matched population control chromosomes. To establish a functional role for this mutation in seizure susceptibility, we introduced the orthologous mutation into the murine Scn9a ortholog using targeted homologous recombination. Compared to wild-type mice, homozygous Scn9a(N641Y/N641Y) knockin mice exhibit significantly reduced thresholds to electrically induced clonic and tonic-clonic seizures, and increased corneal kindling acquisition rates. Together, these data strongly support the SCN9A p.N641Y mutation as disease-causing in this family. To confirm the role of SCN9A in FS, we analyzed a collection of 92 unrelated FS patients and identified additional highly conserved Na(v)1.7 missense variants in 5% of the patients. After one of these children with FS later developed Dravet syndrome (severe myoclonic epilepsy of infancy), we sequenced the SCN1A gene, a gene known to be associated with Dravet syndrome, and identified a heterozygous frameshift mutation. Subsequent analysis of 109 Dravet syndrome patients yielded nine Na(v)1.7 missense variants (8% of the patients), all in highly conserved amino acids. Six of these Dravet syndrome patients with SCN9A missense variants also harbored either missense or splice site SCN1A mutations and three had no SCN1A mutations. This study provides evidence for a role of SCN9A in human epilepsies, both as a cause of FS and as a partner with SCN1A mutations.

  1. A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

    Directory of Open Access Journals (Sweden)

    Nanda A Singh

    2009-09-01

    Full Text Available A follow-up study of a large Utah family with significant linkage to chromosome 2q24 led us to identify a new febrile seizure (FS gene, SCN9A encoding Na(v1.7. In 21 affected members, we uncovered a potential mutation in a highly conserved amino acid, p.N641Y, in the large cytoplasmic loop between transmembrane domains I and II that was absent from 586 ethnically matched population control chromosomes. To establish a functional role for this mutation in seizure susceptibility, we introduced the orthologous mutation into the murine Scn9a ortholog using targeted homologous recombination. Compared to wild-type mice, homozygous Scn9a(N641Y/N641Y knockin mice exhibit significantly reduced thresholds to electrically induced clonic and tonic-clonic seizures, and increased corneal kindling acquisition rates. Together, these data strongly support the SCN9A p.N641Y mutation as disease-causing in this family. To confirm the role of SCN9A in FS, we analyzed a collection of 92 unrelated FS patients and identified additional highly conserved Na(v1.7 missense variants in 5% of the patients. After one of these children with FS later developed Dravet syndrome (severe myoclonic epilepsy of infancy, we sequenced the SCN1A gene, a gene known to be associated with Dravet syndrome, and identified a heterozygous frameshift mutation. Subsequent analysis of 109 Dravet syndrome patients yielded nine Na(v1.7 missense variants (8% of the patients, all in highly conserved amino acids. Six of these Dravet syndrome patients with SCN9A missense variants also harbored either missense or splice site SCN1A mutations and three had no SCN1A mutations. This study provides evidence for a role of SCN9A in human epilepsies, both as a cause of FS and as a partner with SCN1A mutations.

  2. Relation between sexual dysfunctions and epilepsy, type of epilepsy, type of antiepileptic drugs: a prospective study.

    Science.gov (United States)

    Pavone, Carlo; Giacalone, Ninfa; Vella, Marco; Urso, Lidia; Zummo, Leila; Fierro, Brigida

    2017-04-28

    The aim of this study was to evaluate the incidence of sexual dysfunctions in males with epilepsy, the type of epilepsy, the frequency of seizures, the type of antiepileptic drugs (AEDs), the serum hormonal profile and the presence of psychiatric comorbidity. Sixty-one patients focused on type of epilepsy, frequency of seizures, AEDs, hormonal profile and presence of mood disorders. We excluded all patients with severe neurologic and psychiatric impairment and patient who were not able to fill questionnaires. Mean age was 31.2 years (range 18-50 years); 31 patients (50.8%) had an idiopathic generalised epilepsy and 30 (49.2%) a focal epilepsy; among them, latter 18 (60%) had probably symptomatic type and 12 (40%) symptomatic type. Sexual functions were evaluated by "International Inventory of Erectile Function" questionnaire. Out of 61 enrolled patients, 22 (36.7%) showed sexual dysfunctions: erectile dysfunctions in 14 (23%), orgasmic dysfunctions in (11.5%) and sexual drive dysfunctions in 12 (19.7%). Out of 61 patients, 36 were subjected to blood measurement of sexual hormones and 21 (58.3%) showed hormonal modifications. Sexual dysfunction are present in 36.7% of enrolled males with epilepsy; there is any association between sexual dysfunctions and various AEDs in the treatment, except for carbamazepine (CBZ); there is not any association between sexual dysfunctions and frequency of seizures; hormonal changes are associated with sexual dysfunction in males with epilepsy treated with AEDs but not with the orgasmic dysfunction; there is not any association between hormonal changes and type of AEDs, except for CBZ; depression is associated with sexual dysfunctions.

  3. [Current management of epilepsy].

    Science.gov (United States)

    Mizobuchi, Masahiro

    2013-09-01

    Epilepsy is one of the most common neurological disorders. Global neurological knowledge is essential for differential diagnosis of epileptic syndromes due to the diversity of ictal semiology, causes and syndromes. Neurologists play an important role in planning the medical care for patients with epilepsy, as medication is the most fundamental therapeutic strategy. Some patients with early-onset epilepsy require joint care by pediatric neurologists, those with intractable epilepsy by neurosurgeons, and those with psychological comorbidity by psychiatrists, and neurologists should play a coordinating role. While there is a great need for neurologists to participate in epilepsy care, neurologists in Japan currently do not participate substantially in the epilepsy management system. It is necessary to train more neurologists who can provide epilepsy care and conduct basic and clinical research on epilepsy by providing continuous education on epilepsy for general neurologists as well as pre- and post-graduate medical students. Most of the patients who require long-term treatment experience many medical problems and social handicaps, such as adverse effects of medication, social stigma, educational disadvantages and difficulties in obtaining driver's license. To improve the quality of life of patients with epilepsy, it is desirable to build broad medical-social networks participated by patients, doctors, neurological nurses, psychologists, social workers, school teachers, managers of employment support facilities and care givers.

  4. Non-invasive Evaluation for Epilepsy Surgery

    Science.gov (United States)

    IWASAKI, Masaki; JIN, Kazutaka; NAKASATO, Nobukazu; TOMINAGA, Teiji

    2016-01-01

    Epilepsy surgery is aimed to remove the brain tissues that are indispensable for generating patient’s epileptic seizures. There are two purposes in the pre-operative evaluation: localization of the epileptogenic zone and localization of function. Surgery is planned to remove possible epileptogenic zone while preserving functional area. Since no single diagnostic modality is superior to others in identifying and localizing the epileptogenic zone, multiple non-invasive evaluations are performed to estimate the location of the epileptogenic zone after concordance between evaluations. Essential components of non-invasive pre-surgical evaluation of epilepsy include detailed clinical history, long-term video-electroencephalography monitoring, epilepsy-protocol magnetic resonance imaging (MRI), and neuropsychological testing. However, a significant portion of drug-resistant epilepsy is associated with no or subtle MRI lesions or with ambiguous electro-clinical signs. Additional evaluations including fluoro-deoxy glucose positron emission tomography (FDG-PET), magnetoencephalography and ictal single photon emission computed tomography can play critical roles in planning surgery. FDG-PET should be registered on three-dimensional MRI for better detection of focal cortical dysplasia. All diagnostic tools are complementary to each other in defining the epileptogenic zone, so that it is always important to reassess the data based on other results to pick up or confirm subtle abnormalities. PMID:27627857

  5. Homeostasis or channelopathy? Acquired cell type-specific ion channel changes in temporal lobe epilepsy and their antiepileptic potential

    Directory of Open Access Journals (Sweden)

    Jakob eWolfart

    2015-06-01

    Full Text Available Neurons continuously adapt the expression and functionality of their ion channels. For example, exposed to chronic excitotoxicity, neurons homeostatically downscale their intrinsic excitability. In contrast, the ‘acquired channelopathy’ hypothesis suggests that proepileptic channel characteristics develop during epilepsy. We review cell type-specific channel alterations under different epileptic conditions and discuss the potential of channels that undergo homeostatic adaptations, as targets for antiepileptic drugs (AEDs. Most of the relevant studies have been performed on temporal lobe epilepsy (TLE, a widespread AED-refractory, focal epilepsy. The TLE patients, who undergo epilepsy surgery, frequently display hippocampal sclerosis (HS, which is associated with degeneration of cornu ammonis subfield 1 pyramidal cells (CA1 PCs. Although the resected human tissue offers insights, controlled data largely stem from animal models simulating different aspects of TLE and other epilepsies. Most of the cell type-specific information is available for CA1 PCs and dentate gyrus granule cells (DG GCs. Between these two cell types, a dichotomy can be observed: while DG GCs acquire properties decreasing the intrinsic excitability (in TLE models and patients with HS, CA1 PCs develop channel characteristics increasing intrinsic excitability (in TLE models without HS only. However, thorough examination of data on these and other cell types reveals the coexistence of protective and permissive intrinsic plasticity within neurons. These mechanisms appear differentially regulated, depending on the cell type and seizure condition. Interestingly, the same channel molecules that are upregulated in DG GCs during HS-related TLE, appear as promising targets for future AEDs and gene therapies. Hence, GCs provide an example of homeostatic ion channel adaptation which can serve as a primer when designing novel anti-epileptic strategies.

  6. [Treatment of epilepsy: where are we today?].

    Science.gov (United States)

    Wieser, H G

    1996-01-23

    The modern treatment of epilepsy has improved considerably in all three pillars. More than a century has passed, however, since Sir Charles Locock introduced the bromides in 1857 and Sir Victor Horsely pioneered epilepsy surgery in 1886 (18). In drug therapy, the 'classic AED' of the last decades, i.e. phenobarbital (Hauptmann, 1912) and phenytoin (Putnam and Merrit, 1938) are being largely displaced by valproate (Meunir, 1963) and carbamazepine (Lorge, 1963). Only ethosuximide (Zimmermann, 1951) has continued to maintain its position in 3/s spikewave-absence epilepsy, in particular in the USA (28, 29). Although it is an excellent drug against absences, it has the unpleasant property that it may induce GM seizures and should therefore be combined with a so-called 'GM protector' (mostly phenobarbital). For this reason ethosuximide has been relegated to second place in Europe by valproate. Thus, the decision as to which AED should be employed at the outset has been simplified considerably: actually, with valproate as the drug of first choice, which displays a very broad spectrum of action, we are on the right track for virtually all forms of epilepsy, perhaps with the exception of focal epilepsy (11). Especially in the event of focal epilepsy of temporal origin we employ carbamazepine as the preparation of first choice. In some countries (Denmark), because of the less severe side effects, oxcarbazepine is already preferred (Mogens Dam, personal communication). Considerable experience and knowledge are still required, however, when resistance has developed to traditionally applied classic monotherapy. Here, the range of further treatment can also be greatly extended by the availability of the 'new AED'. A generally accepted protocol for the replacement of one preparation with another first- or second-choice drug and, above all, for the 'right' combination with third-choice preparations can as yet not be compiled. What we need here is the expert epileptologist who has

  7. Epilepsy in Adults with TSC

    Science.gov (United States)

    ... Privacy Policy Sitemap Learn Engage Donate About TSC Epilepsy in Adults with TSC Individuals with tuberous sclerosis ... being well controlled for long periods of time. Epilepsy and Seizures Epilepsy is any brain disorder that ...

  8. Epilepsy research 150 years after Darwin's theory of evolution.

    Science.gov (United States)

    Scorza, Fulvio A; Terra, Vera C; Scorza, Carla A; Arida, Ricardo M; Cavalheiro, Esper A

    2009-12-01

    On February 12, 2009, we commemorated the 200th anniversary of Charles Darwin's birth and the 150th anniversary of the publication of the first edition of the 'On the origin of species'. Only in the sixth edition of the Origin Darwin explicitly stated that natural selection applied to the brain as to all other organs and contemporary epilepsy research plays an interesting role in this scenario. Epilepsy affects approximately 3 percent of the general population and is a complex disease. At least 11 genes have now been described for human epilepsy and over 50 more genes have been identified in animal models of epilepsy. The complex gene to gene interactions and gene-environment interactions may account for epilepsy susceptibility and antiepileptic drug response. Darwin's thoughts on evolution are relevant to understand these gene interactions, contributing to current development of new treatments and prevention of chronic diseases, such as epilepsy.

  9. Pharmacoresistant epilepsy and nanotechnology.

    Science.gov (United States)

    Rosillo-de la Torre, Argelia; Luna-Bárcenas, Gabriel; Orozco-Suárez, Sandra; Salgado-Ceballos, Hermelinda; García, Perla; Lazarowski, Alberto; Rocha, Luisa

    2014-06-01

    Epilepsy is one of the most common chronic neurological disorders. Furthermore, it is associated to diminished health-related quality of life and is thus considered a major public health problem. In spite of the large number of available and ongoing development of several new antiepileptic drugs (AEDs), a high percentage of patients with epilepsy (35-40%) are resistant to pharmacotherapy. A hypothesis to explain pharmacoresistance in epilepsy suggests that overexpression of multidrug resistance proteins, such as P-glycoprotein, on the endothelium of the blood brain barrier represents a challenge for effective AED delivery and concentration levels in the brain. Proven therapeutic strategies to control pharmacoresistant epilepsy include epilepsy surgery and neuromodulation. Unfortunately, not all patients are candidates for these therapies. Nanotechnology represents an attractive strategy to overcome the limited brain access of AEDs in patients with pharmacoresistant epilepsy. This manuscript presents a review of evidences supporting this idea.

  10. Epilepsy after Febrile Seizures

    DEFF Research Database (Denmark)

    Seinfeld, S. A.; Pellock, J M; Kjeldsen, Lone Marianne Juel

    2016-01-01

    Background A history of complex febrile seizures can increase the risk of epilepsy, but the role of genetic factors is unclear. This analysis evaluated the relationship between febrile seizures and epilepsy. Methods Information on the history of seizures was obtained by a questionnaire from twin...... epilepticus. There were 78 twins who developed epilepsy. The highest rate of epilepsy (22.2%) occurred in the febrile status epilepticus group. Concordance was highest in simple group. Conclusion A twin with febrile status epilepticus is at the highest risk of developing epilepsy, but simple febrile seizures...... and emotional burden. It is currently not possible to accurately identify which children will develop recurrent febrile seizures, epilepsy, or neuropsychological comorbidities. © 2016 Elsevier Inc. All rights reserved....

  11. Guidelines for imaging infants and children with recent-onset epilepsy

    Energy Technology Data Exchange (ETDEWEB)

    Gaillard, W.D. [Department of Neuroscience, Children' s National Medical Center, George Washington University, Washington DC (United States); Chiron, C. [Inserm, Hopital Necker-Enfants Malades, Universite Rene Descartes, Paris (France); Cross, H. [Neurosciences Unit, Institute of Child Health, and GreatOrmondStreet Hospital for Children, London (United Kingdom); Harvey, S. [Department of Neurology, Royal Children' s Hospital, University of Melbourne, Melbourne (Australia); Kuzniecky, R. [Department of Neurology, New York University School of Medicine, New York, NY (US); Hertz-Pannier, L. [Department of Radiology, Hopital Necker-Enfants Malades, Universite Descartes, Paris (FR); CEA-DSV-I2BM-Neurospin, 91191 Gif sur Yvette (FR)

    2009-07-01

    The International League Against Epilepsy (ILAE) Subcommittee for Pediatric Neuroimaging examined the usefulness of, and indications for, neuroimaging in the evaluation of children with newly diagnosed epilepsy. The retrospective and prospective published series with n {>=} 30 utilizing computed tomography (CT) and magnetic resonance imaging (MRI) (1.5 T) that evaluated children with new-onset seizure(s) were reviewed. Nearly 50% of individual imaging studies in children with localization-related new-onset seizure(s) were reported to be abnormal; 15-20% of imaging studies provided useful information on etiology or and seizure focus, and 2-4% provided information that potentially altered immediate medical management. A significant imaging abnormality in the absence of a history of a localization-related seizure, abnormal neurologic examination, or focal electro-encephalography (EEG) is rare. Imaging studies in childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and benign childhood epilepsy with centro-temporal spikes (BECTS) do not identify significant structural abnormalities. Imaging provides important contributions to establishing etiology, providing prognostic information, and directing treatment in children with recently diagnosed epilepsy. Imaging is recommended when localization-related epilepsy is known or suspected, when the epilepsy classification is in doubt, or when an epilepsy syndrome with remote symptomatic cause is suspected. When available, MRI is preferred to CT because of its superior resolution, versatility, and lack of radiation. (authors)

  12. Epilepsy in Prader-Willi syndrome:clinical, diagnostic and treatment aspects

    Institute of Scientific and Technical Information of China (English)

    Alberto Verrotti; Claudia Soldani; Daniela Laino; Renato d'Alonzo; Salvatore Grosso

    2014-01-01

    Background: Epilepsy associated with Prader-Willi syndrome (PWS) represents an early and important complication, often not clearly reported and described in the literature. Consequently, there are controversial data about the clinical characteristics of epilepsy and electroencephalographic (EEG) abnormalities found in these patients. Data sources: Based on recent original publications, we have reviewed the different types of seizures and EEG findings in PWS patients, the response to antiepileptic treatment, and the prognosis of epilepsy. Results: The frequency of epilepsy in PWS patients ranges from 4% to 26%. The types of seizure include generalized tonic-clonic seizures, complex partial seizures, atypical absence, staring spells, and myoclonic, tonic and hemiclonic seizures, but the most frequent type is focal epilepsy. Status epilepticus has never been reported. EEG abnormalities are not typical but variable in different patients. However, generalized and focal discharges are the most frequently reported findings. There is no evidence of relationship between the course of epilepsy and frequency, morphology and spread of EEG discharges. However, epilepsy in PWS patients is usually responsive to antiepileptic monotherapy with rapid seizure control and a good outcome. Conclusions: The frequency of epilepsy is higher in PWS patients than in general populations and this complication can be a challenge for the clinicians of these patients. Prospective studies are needed to confirm the good long-term prognosis.

  13. Efficacy of lacosamide as adjunctive therapy in children with refractory epilepsy.

    Science.gov (United States)

    Yorns, William R; Khurana, Divya S; Carvalho, Karen S; Hardison, H Huntley; Legido, Agustín; Valencia, Ignacio

    2014-01-01

    Lacosamide is a US Food and Drug Administration (FDA)-approved antiepileptic drug for patients 17 years or older with partial epilepsy. There are sparse data on children. The objective of our study was to evaluate its efficacy/safety in children with refractory epilepsy. Forty children (mean age 14.3 years) were treated with lacosamide at our institution (adjunctive therapy in 36, monotherapy in 4). Fifteen patients had symptomatic focal epilepsy, 2 had cryptogenic focal epilepsy, 20 had symptomatic generalized epilepsy, and 3 had cryptogenic generalized epilepsy. Two had juvenile myoclonic epilepsy and 5 had Lennox-Gastaut syndrome. Forty-two percent had at least >50% reduction in seizure frequency, and 6 became seizure free. Average dose was 7 mg/kg/d and average follow-up was 9.2 months. Responders had a 76.5% mean decrease in seizures. Fifteen children experienced an adverse reaction and 7 discontinued lacosamide (4: Ineffective, I: insurance denial, 1: tremor, 1: behavior). Lacosamide is effective and well-tolerated in children with refractory epilepsy.

  14. An appraisal of the new operational definition of epilepsy--then and now.

    Science.gov (United States)

    Malkan, Ashish; Beran, Roy G

    2014-12-01

    The focus to define epilepsy in the newly proposed classification has shifted from the conceptual perspective to practical application thought to better reflect that which is happening to the patient. Within the new definition, a single unprovoked or reflex seizure can be considered as epilepsy if the recurrence risk is similar to that following two unprovoked seizures. Epilepsy is considered to be resolved if the individual had an age-dependent epilepsy syndrome and has passed the applicable age or if the person has remained seizure-free for the last ten years without seizure medications for the last five years. This new operational definition of epilepsy may change the epileptologist's approach regarding when and how long to treat patients with seizures. The new definition also has significant psychosocial and employment-related implications for the patients. With regard to etiology, the terms idiopathic, symptomatic, and cryptogenic have been replaced by genetic, structural/metabolic, and unknown. This reflects a better understanding of the underlying cause of epilepsy based on genetic tests and better neuroimaging. The terms 'simple partial' and 'complex partial' seizures have been replaced by 'focal motor/sensory' and 'focal dyscognitive' seizures, thereby ending the ambiguity associated with the former terms and the difficulty encountered with definitions of altered states of consciousness. These changes, reflective of a better insight into the pathogenesis of seizures and epilepsy, are expected to be more pragmatic and assist when managing patients with epilepsy.

  15. Focal epithelial hyperplasia: Heck disease.

    Science.gov (United States)

    Cohen, P R; Hebert, A A; Adler-Storthz, K

    1993-09-01

    Two sisters of Mexican ancestry had focal epithelial hyperplasia (FEH). The lesions on the oral mucosa of the older child were initially misinterpreted as representing sexual abuse. Microscopic evaluation of a hematoxylin and eosin-stained section from a lower lip papule demonstrated the histologic features of FEH. Although human papillomavirus (HPV) type 13 and HPV32 have been most consistently present in FEH lesions, types 6, 11, 13, and 32 were not detected in the paraffin-embedded tissue specimen of our patient using an in situ hybridization technique. The lesions persisted or recurred during management using destructive modalities; subsequently, they completely resolved spontaneously.

  16. Focal epithelial hyperplasia (Heck's disease

    Directory of Open Access Journals (Sweden)

    Parichehr Gheliani

    2011-11-01

    Full Text Available Focal epithelial hyperplasia (Heck is a rare lesion caused by human papilloma virus subtype 13 or 32 and presents as multiple small white or pink papules on the mucosal surface of lips, buccal mucosa and tongue usually seen in children and adolescent of American Indian and Eskimo background. This disease has a genetic basis. The site of new lesions and recurrence are unpredictable. Continued follow up of the patient is often necessary. In this report, a 50-year-old woman is described with benign papillomatous lesions on dorsal surface of tongue for 15 years

  17. Social Cognition in Epilepsy

    OpenAIRE

    Mccagh, J T

    2011-01-01

    Some of the psychological problems associated with epilepsy have their origins in the ability of people with epilepsy (PWE) to engage in meaningful and appropriate social interactions. PWE often report difficulties in social settings, yet there is a paucity of research investigating the socio-cognitive skills of this group. This thesis aimed to investigate these skills and relate them to the patient's perceived impact of epilepsy on their social competence. An additional objective was to see ...

  18. Epilepsy: Indian perspective

    Directory of Open Access Journals (Sweden)

    Nandanavana Subbareddy Santhosh

    2014-01-01

    Full Text Available There are 50 million people living with epilepsy worldwide, and most of them reside in developing countries. About 10 million persons with epilepsy are there in India. Many people with active epilepsy do not receive appropriate treatment for their condition, leading to large treatment gap. The lack of knowledge of antiepileptic drugs, poverty, cultural beliefs, stigma, poor health infrastructure, and shortage of trained professionals contribute for the treatment gap. Infectious diseases play an important role in seizures and long-term burden causing both new-onset epilepsy and status epilepticus. Proper education and appropriate health care services can make tremendous change in a country like India. There have been many original researches in various aspects of epilepsy across India. Some of the geographically specific epilepsies occur only in certain regions of our country which have been highlighted by authors. Even the pre-surgical evaluation and epilepsy surgery in patients with drug-resistant epilepsy is available in many centers in our country. This article attempts to provide a complete preview of epilepsy in India.

  19. Approaches to refractory epilepsy

    Directory of Open Access Journals (Sweden)

    Jerome Engel

    2014-01-01

    Full Text Available Epilepsy is one of the most common serious neurological conditions, and 30 to 40% of people with epilepsy have seizures that are not controlled by medication. Patients are considered to have refractory epilepsy if disabling seizures continue despite appropriate trials of two antiseizure drugs, either alone or in combination. At this point, patients should be referred to multidisciplinary epilepsy centers that perform specialized diagnostic testing to first determine whether they are, in fact, pharmacoresistant, and then, if so, offer alternative treatments. Apparent pharmacoresistance can result from a variety of situations, including noncompliance, seizures that are not epileptic, misdiagnosis of the seizure type or epilepsy syndrome, inappropriate use of medication, and lifestyle issues. For patients who are pharmacoresistant, surgical treatment offers the best opportunity for complete freedom from seizures. Surgically remediable epilepsy syndromes have been identified, but patients with more complicated epilepsy can also benefit from surgical treatment and require more specialized evaluation, including intracranial EEG monitoring. For patients who are not surgical candidates, or who are unwilling to consider surgery, a variety of other alternative treatments can be considered, including peripheral or central neurostimulation, ketogenic diet, and complementary and alternative approaches. When such alternative treatments are not appropriate or effective, quality of life can still be greatly improved by the psychological and social support services offered by multidisciplinary epilepsy centers. A major obstacle remains the fact that only a small proportion of patients with refractory epilepsy are referred for expert evaluation and treatment.

  20. Personality characteristics and epilepsy

    DEFF Research Database (Denmark)

    Sørensen, A S; Hansen, H; Andersen, R;

    1989-01-01

    as controls. Four clinical meaningful dimensions of included personality traits were identified: ixoide, ideational, obsessive-compulsive and affective features. Analyses based on the Rasch model approved of all dimensions except for affective features. The epilepsy group obtained the highest scores on all 3......Patients with a long history of temporal lobe epilepsy or primary generalized epilepsy entered a questionnaire study of personality characteristics, based on a modification of the Bear-Fedio inventory for temporal lobe behavioural syndrome. Psoriasis patients and healthy volunteers served...... dysfunction in the epilepsy group, the mere presence of a chronic disorder with potential social stigmatization influences personality....

  1. Epilepsy: Indian perspective.

    Science.gov (United States)

    Santhosh, Nandanavana Subbareddy; Sinha, Sanjib; Satishchandra, Parthasarathy

    2014-03-01

    There are 50 million people living with epilepsy worldwide, and most of them reside in developing countries. About 10 million persons with epilepsy are there in India. Many people with active epilepsy do not receive appropriate treatment for their condition, leading to large treatment gap. The lack of knowledge of antiepileptic drugs, poverty, cultural beliefs, stigma, poor health infrastructure, and shortage of trained professionals contribute for the treatment gap. Infectious diseases play an important role in seizures and long-term burden causing both new-onset epilepsy and status epilepticus. Proper education and appropriate health care services can make tremendous change in a country like India. There have been many original researches in various aspects of epilepsy across India. Some of the geographically specific epilepsies occur only in certain regions of our country which have been highlighted by authors. Even the pre-surgical evaluation and epilepsy surgery in patients with drug-resistant epilepsy is available in many centers in our country. This article attempts to provide a complete preview of epilepsy in India.

  2. Recovery of motor spontaneous activity after intranasal delivery of human recombinant erythropoietin in a focal brain hypoxia model induced by CoCl2 in rats.

    Science.gov (United States)

    Merelli, Amalia; Caltana, Laura; Girimonti, Patricia; Ramos, Alberto Javier; Lazarowski, Alberto; Brusco, Alicia

    2011-08-01

    Stroke is a major human health problem inducing long-term disability without any efficient therapeutic option being currently available. Under hypoxia, hypoxia-inducible factor-1α (HIF-1α) activates several genes as erythropoietin receptor (Epo-R) related with O(2) supply, and the multidrug-resistance gene (MDR-1) related with drug-refractory phenotype. Brain cortical injection of CoCl(2) produces focal hypoxia-like lesion with neuronal and glial alterations, as well as HIF-1α stabilization and MDR-1 overexpression. Intranasal (IN) drug delivery can by-pass blood-brain barrier (BBB) where MDR-1 is normally expressed. We evaluated the effects of IN-rHu-Epo administration on spontaneous motor activity (SMA) and the brain pattern expression of HIF-1α, MDR-1, and Epo-R in our cobalt-induced hypoxia model. Adult male Wistar rats were injected by stereotaxic surgery in frontoparietal cortex, with CoCl(2) (2 μl-50 mM; n = 20) or saline (controls; n = 20). Ten rats of each group were treated with IN-rHu-Epo 24 U or IN-saline. In addition, erythropoietic stimulation was evaluated by reticulocytes (Ret) account during three consecutive days, after intraperitoneal (i.p.)-recombinant-human Epo (rHu-Epo) (950 U; n = 6) or IN-rHu-Epo (24 U; n = 6) administration. SMA was evaluated by open field and rotarod tests, before and after surgical procedures during five consecutive days. Histological and immunostaining studies of HIF-1α, MDR-1, and Epo-R were performed on brain slides. A significant difference in SMA was observed in the hypoxic rats of IN-rHu-Epo-administered group as compared with Co-Saline-treated subjects and controls (p < 0.001). HIF-1α, EPO-R, and MDR-1 were overexpressed in the hypoxic cortex areas, while in contralateral hemisphere or controls, they were negatives. Reticulocytes were only increased in intraperitoneal (i.p.)-rHu-Epo-administered group. In spite of MDR-1 overexpression being detected in neurons, the coexpression of Epo-R could

  3. Spatial memory deficits in juvenile rats with pilocarpine induced temporal lobe epilepsy

    Directory of Open Access Journals (Sweden)

    Orbán-Kis K

    2014-10-01

    Full Text Available One of the most frequent forms of epilepsy in humans is temporal lobe epilepsy. Characteristic to this form of the disease is the frequent pharmacoresistance and the association with behavioural disorders and cognitive impairment. The objective of our study was to establish the degree of cognitive impairment in a rat model of temporal lobe epilepsy after an initial epileptogenic exposure but before of the onset of the effect of long-duration epilepsy.

  4. SNAP focal plane

    Energy Technology Data Exchange (ETDEWEB)

    Lampton, Michael L.; Kim, A.; Akerlof, C.W.; Aldering, G.; Amanullah, R.; Astier, P.; Barrelet, E.; Bebek, C.; Bergstrom, L.; Berkovitz, J.; Bernstein, G.; Bester, M.; Bonissent, A.; Bower, C.; Carithers Jr., W.C.; Commins, E.D.; Day, C.; Deustua, S.E.; DiGennaro,R.; Ealet, A.; Ellis, R.S.; Eriksson, M.; Fruchter, A.; Genat, J.-F.; Goldhaber, G.; Goobar, A.; Groom, D.; Harris, S.E.; Harvey, P.R.; Heetderks, H.D.; Holland, S.E.; Huterer, D.; Karcher, A.; Kolbe, W.; Krieger, B.; Lafever, R.; Lamoureux, J.; Levi, M.E.; Levin, D.S.; Linder,E.V.; Loken, S.C.; Malina, R.; Massey, R.; McKay, T.; McKee, S.P.; Miquel, R.; Mortsell, E.; Mostek, N.; Mufson, S.; Musser, J.; Nugent, P.; Oluseyi, H.; Pain, R.; Palaio, N.; Pankow, D.; Perlmutter, S.; Pratt, R.; Prieto, E.; Refregier, A.; Rhodes, J.; Robinson, K.; Roe, N.; Sholl, M.; Schubnell, M.; Smadja, G.; Smoot, G.; Spadafora, A.; Tarle, G.; Tomasch,A.; von der Lippe, H.; Vincent, R.; Walder, J.-P.; Wang, G.

    2002-07-29

    The proposed SuperNova/Acceleration Probe (SNAP) mission will have a two-meter class telescope delivering diffraction-limited images to an instrumented 0.7 square-degree field sensitive in the visible and near-infrared wavelength regime. We describe the requirements for the instrument suite and the evolution of the focal plane design to the present concept in which all the instrumentation--visible and near-infrared imagers, spectrograph, and star guiders--share one common focal plane.

  5. Restoring Conscious Arousal During Focal Limbic Seizures with Deep Brain Stimulation.

    Science.gov (United States)

    Kundishora, Adam J; Gummadavelli, Abhijeet; Ma, Chanthia; Liu, Mengran; McCafferty, Cian; Schiff, Nicholas D; Willie, Jon T; Gross, Robert E; Gerrard, Jason; Blumenfeld, Hal

    2016-03-03

    Impaired consciousness occurs suddenly and unpredictably in people with epilepsy, markedly worsening quality of life and increasing risk of mortality. Focal seizures with impaired consciousness are the most common form of epilepsy and are refractory to all current medical and surgical therapies in about one-sixth of cases. Restoring consciousness during and following seizures would be potentially transformative for these individuals. Here, we investigate deep brain stimulation to improve level of conscious arousal in a rat model of focal limbic seizures. We found that dual-site stimulation of the central lateral nucleus of the intralaminar thalamus (CL) and the pontine nucleus oralis (PnO) bilaterally during focal limbic seizures restored normal-appearing cortical electrophysiology and markedly improved behavioral arousal. In contrast, single-site bilateral stimulation of CL or PnO alone was insufficient to achieve the same result. These findings support the "network inhibition hypothesis" that focal limbic seizures impair consciousness through widespread inhibition of subcortical arousal. Driving subcortical arousal function would be a novel therapeutic approach to some forms of refractory epilepsy and may be compatible with devices already in use for responsive neurostimulation. Multisite deep brain stimulation of subcortical arousal structures may benefit not only patients with epilepsy but also those with other disorders of consciousness.

  6. Tlazolteotl, the Aztec goddess of epilepsy.

    Science.gov (United States)

    Ladino, Lady Diana; Téllez-Zenteno, José Francisco

    2016-04-01

    Epilepsy has afflicted humanity during most of the extent of documented history. The Aztecs believed that illnesses were punishments that were sent from a furious goddess. In particular, epilepsy was considered in Aztec culture as a "sacred disease", and convulsions were traditionally associated with a deified woman who had died at childbirth. As the goddess Shiva and Apasmâra in ancient India and Saint Valentine in Germany, Tlazolteotl was considered able to bring about and send away epilepsy. We performed a comprehensive review to identify Tlazolteotl depictions and its historical context related with epilepsy. Tlazolteotl is one of the most endearing and complex goddesses of the Mesoamericans. She was the deity of the black fertile and fecund earth that gains its energy from death and in turn feeds life. Associated with purification, expiation, and regeneration, she embodied fertility and turned all garbage, physical and metaphysical, into rich life. This article reviews the most relevant artistic works related with Tlazolteotl. We also present a modern depiction of the Aztec goddess of epilepsy from the Mexican artist Eduardo Urbano Merino, displaying the supernatural view of epilepsy in America. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. Epilepsy: A Disruptive Force in History.

    Science.gov (United States)

    Ali, Rohaid; Connolly, Ian D; Feroze, Abdullah H; Awad, Ahmed J; Choudhri, Omar A; Grant, Gerald A

    2016-06-01

    Since it was first described in a Mesopotamian text in 2000 bc, countless individuals have offered their perspectives on epilepsy's cause, treatment, and even deeper spiritual significance. However, despite the attention the disease has received through the millennia, it has only been within the past half-century that truly effective treatment options have been available. As a result, for the vast majority of recorded history, individuals with epilepsy have not only had to deal with the uncertainty of their next epileptic seizure but also the concomitant stigma and ostracization. Interestingly, these individuals have included several prominent historical figures, including Julius Caesar, Vladimir Lenin, and Fyodor Dostoyevsky. The fact that epilepsy has appeared in the lives of influential historical people means that the disease has played some role in affecting the progress of human civilization. Epilepsy has cut short the lives of key political leaders, affected the output of talented cultural icons, and, especially within the past half century, influenced the collective understanding of neuroscience and the human nervous system. In this article, the authors review how epilepsy throughout history has manifested itself in the lives of prominent figures and how the disease has helped shape the course of humanity's political, cultural, and scientific evolution.

  8. Surgical treatment of polymicrogyria-related epilepsy.

    Science.gov (United States)

    Cossu, Massimo; Pelliccia, Veronica; Gozzo, Francesca; Casaceli, Giuseppe; Francione, Stefano; Nobili, Lino; Mai, Roberto; Castana, Laura; Sartori, Ivana; Cardinale, Francesco; Lo Russo, Giorgio; Tassi, Laura

    2016-12-01

    The role of resective surgery in the treatment of polymicrogyria (PMG)-related focal epilepsy is uncertain. Our aim was to retrospectively evaluate the seizure outcome in a consecutive series of patients with PMG-related epilepsy who received, or did not receive, surgical treatment, and to outline the clinical characteristics of patients who underwent surgery. We evaluated 64 patients with epilepsy associated with magnetic resonance imaging (MRI)-documented PMG. After presurgical evaluation, 32 patients were excluded from surgical treatment and 32 were offered surgery, which was declined by 8 patients. Seizure outcome was assessed in the 40 nonsurgical and 24 surgical patients. Of 40 nonsurgical patients, 8 (20%) were seizure-free after a mean follow-up of 91.7 ± (standard deviation) 59.5 months. None of the eight patients who declined surgical treatment was seizure-free (mean follow-up: 74.3 ± 60.6 months). These seizure outcomes differ significantly (p = 0.000005 and p = 0.0003, respectively) from that of the 24 surgical patients, 18 of whom (66.7%) were Engel's class I postoperatively (mean follow-up: 66.5 ± 54.0 months). Of the eight patients excluded from surgery for seizure control at first visit, two had seizure recurrence at last contact. At last contact, antiepileptic drugs (AEDs) had been withdrawn in 6 of 24 surgical and in one of 40 nonsurgical cases (p = 0.0092). The present study indicates that, at least in a subset of adequately selected patients with PMG-related epilepsy, surgery may provide excellent seizure outcomes. Furthermore, it suggests that surgery is superior to AEDs for achieving seizure freedom in these cases. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

  9. Remifentanil-induced spike activity as a diagnostic tool in epilepsy surgery

    DEFF Research Database (Denmark)

    Gronlykke, L.; Knudsen, M.L.; Hogenhaven, H.;

    2008-01-01

    OBJECTIVES: To assess the value of remifentanil in intraoperative evaluation of spike activity in patients undergoing surgery for mesial temporal lobe epilepsy (MTLE). MATERIALS AND METHODS: Twenty-five patients undergoing temporal lobectomy for medically intractable MTLE were enrolled in the study...... activity in the epileptogenic zone and reveal otherwise concealed epileptogenic tissue in patients with MTLE. Thus, remifentanil may prove to be an important diagnostic tool during surgical treatment for intractable focal epilepsy Udgivelsesdato: 2008/2...

  10. Clinical Drug Development in Epilepsy Revisited: A Proposal for a New Paradigm Streamlined Using Extrapolation

    OpenAIRE

    Wadsworth, Ian; Jaki, Thomas; Sills, Graeme J; Appleton, Richard; Cross, J Helen; Marson, Anthony G; Martland, Tim; McLellan, Ailsa; Smith, Philip E. M.; Pellock, John M; Hampson, Lisa V.

    2016-01-01

    Data from clinical trials in adults, extrapolated to predict benefits in paediatric patients, could result in fewer or smaller trials being required to obtain a new drug licence for paediatrics. This article outlines the place of such extrapolation in the development of drugs for use in paediatric epilepsies. Based on consensus expert opinion, a proposal is presented for a new paradigm for the clinical development of drugs for focal epilepsies. Phase I data should continue to be collected in ...

  11. Epilepsy and violence: case series concerning physical trauma in children of persons with epilepsy

    Directory of Open Access Journals (Sweden)

    Gauffin H

    2014-11-01

    Full Text Available Helena Gauffin1,2 Anne-Marie Landtblom1–4 1Department of Neurology, Linköping University, Linköping, Sweden; 2Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden; 3Neurology Unit, Department of Medical Specialist, General Hospital, Department of Medicine and Health Sciences, IMM, County Council, Linköping University, Motala, Sweden; 4Department of Neuroscience, Uppsala University, Uppsala, Sweden Abstract: Historically, epilepsy has been associated with violence, but more recent studies have emphasized genetic and psychosocial factors as more important. The case series presented here aim to highlight the difficult situation the affected children are in. We report on three cases when children have been traumatized and, in one case, even been killed by their parent who was diagnosed with epilepsy. In the first case, we describe a woman with juvenile myoclonic epilepsy who was sentenced to forensic psychiatry care for killing her child. She lived under difficult psychosocial circumstances and a suicide attempt contributed to what happened. The second case describes a man with post-traumatic seizures who was sentenced for child abuse. Ictal or postictal violence was considered in these two cases but a causal link between the violence and epilepsy has not been established. In the third case, we describe a woman with focal epilepsy and psychogenic non-epileptic seizures (PNESs. Her child was hurt and frightened in relation to violent seizures, which were regarded as PNESs. This case series demonstrates that children of parents with epilepsy can be in a vulnerable situation. No causality has been established between the seizures and these events, so consequently other factors such as psychosocial stress, low cognitive function, and a suicide attempt must also be considered as important. When a child is hurt by a parent with epilepsy the patient must be closely examined to determine the role of the seizures

  12. PCDH19-related epilepsy in two mosaic male patients.

    Science.gov (United States)

    Terracciano, Alessandra; Trivisano, Marina; Cusmai, Raffaella; De Palma, Luca; Fusco, Lucia; Compagnucci, Claudia; Bertini, Enrico; Vigevano, Federico; Specchio, Nicola

    2016-03-01

    PCDH19 gene mutations have been recently associated with an epileptic syndrome characterized by focal and generalized seizures. The PCDH19 gene (Xq22.1) has an unusual X-linked inheritance with a selective involvement for female subjects. A cellular interference mechanism has been hypothesized and male patients can manifest epilepsy only in the case of a mosaicism. So far about 100 female patients, and only one symptomatic male have been described. Using targeted next generation sequencing (NGS) approach we found a PCDH19 point mutation in two male patients with a clinical picture suggestive of PCDH19-related epilepsy. The system allowed us to verify that the two c.1352 C>T; p.(Pro451Leu) and c.918C>G; p.(Tyr306*) variants occurred in mosaic status. Mutations were confirmed by Sanger sequencing and quantified by real-time polymerase chain reaction (PCR). Up to now, the traditional molecular screening for PCDH19-related epilepsy has been targeted to all females with early onset epilepsy with or without cognitive impairment. Male patients were generally excluded. We describe for the first time two mosaic PCDH19 point mutations in two male patients with a clinical picture suggestive of PCDH19-related epilepsy. This finding opens new opportunities for the molecular diagnoses in patients with a peculiar type of epilepsy that remains undiagnosed in male patients.

  13. Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy.

    Science.gov (United States)

    Grosso, Salvatore; Mostardini, Rosa; Di Bartolo, Rosanna Maria; Balestri, Paolo; Verrotti, Alberto

    2011-09-01

    Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies which is related to the deletion of tandem repeats on chromosome 4q35. Extramuscular features such as hearing loss, retinopathy, mental retardation, and epilepsy, may be observed in patients carrying large 4q35 deletions resulting in fragment sizes less than 12 kilobases (kb) (normal >35 kb). We report on a family affected by FSHD carrying a small 4q35 deletion and residual fragments length of 17 kb, presenting with epilepsy (three patients), speech delay (two), and mental retardation (one). In all patients semeiology of seizures and interictal EEG anomalies were congruent with a localization-related epilepsy possibly involving the temporal lobe. In conclusion, we provide further evidences that extramuscular findings such as epilepsy, speech delay, and mental retardation may occur in those patients carrying smaller 4q35 deletions, suggesting that a close correlation between 4q35 fragment size and clinical severity in FSHD is therefore not constant. Moreover, a review of the literature and our observations seem to suggest that focal epilepsies, likely related to the temporal lobe in the present family, represent the main type of epilepsy occurring in children with FSHD. Copyright © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  14. Pre-Surgical Evaluation of Intractable Epilepsy in Children

    Directory of Open Access Journals (Sweden)

    Hadi Kazemi

    2011-05-01

    Full Text Available AbstractObjectiveThis review summarizes some patterns of pre-surgical evaluation of epilepsyin children with medically refractory seizures. Epilepsy surgery is a valuabletherapeutic option for many children with intractable epilepsy. The most effectivetreatment for intractable partial epilepsy is a focal cortical resection with excisionof the area of ictal onset and initial seizure propagation (the epileptogenic zone.EEG monitoring continues to prove indispensable in pre-surgical planning ofrefractory epileptic patients by defining the epileptogenic zone. Technologicalprogresses in both structural and functional neuroimaging techniques have ledmany medical centers to consider surgical treatment of epilepsy. In childrenundergoing pre-surgical evaluation, the goals of neuroimaging studies includethe identification of structural abnormalities in the brain, eloquent regions of thebrain including language, memory, and sensorimotor functions, and the relationof these regions to the potential epileptogenic region. Neuropsychological testingplays a crucial role in assessing the potential impact of surgery on cognitivefunction of the patients and helps in lateralizing the cerebral hemispheredominant for verbal and nonverbal function in older children. The Wada testis an invasive procedure to determine language dominance and can be usedto assess the risk of postoperative memory deficits in children with temporallobe epilepsy. Some children scheduled for resection still need to undergofurther precise localization of the epileptogenic zone and functional mappingwith invasive EEG monitoring through intracranial subdural grid and/or depthelectrodes. Epilepsy surgery has the potential of changing the life quality ofchildren by improving or eliminating seizures in carefully selected patients.

  15. Electrocardiographic features of sudden unexpected death in epilepsy.

    Science.gov (United States)

    Chyou, Janice Y; Friedman, Daniel; Cerrone, Marina; Slater, William; Guo, Yu; Taupin, Daniel; O'Rourke, Sean; Priori, Silvia G; Devinsky, Orrin

    2016-07-01

    Sudden unexpected death in epilepsy (SUDEP) is the most common cause of epilepsy-related mortality. We hypothesized that electrocardiography (ECG) features may distinguish SUDEP cases from living subjects with epilepsy. Using a matched case-control design, we compared ECG studies of 12 consecutive cases of SUDEP over 10 years and 22 epilepsy controls matched for age, sex, epilepsy type (focal, generalized, or unknown/mixed type), concomitant antiepileptic, and psychotropic drug classes. Conduction intervals and prevalence of abnormal ventricular conduction diagnosis (QRS ≥110 msec), abnormal ventricular conduction pattern (QRS <110 msec, morphology of incomplete right or left bundle branch block or intraventricular conduction delay), early repolarization, and features of inherited cardiac channelopathies were assessed. Abnormal ventricular conduction diagnosis and pattern distinguished SUDEP cases from matched controls. Abnormal ventricular conduction diagnosis was present in two cases and no controls. Abnormal ventricular conduction pattern was more common in cases than controls (58% vs. 18%, p = 0.04). Early repolarization was similarly prevalent in cases and controls, but the overall prevalence exceeded that of published community-based cohorts. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

  16. Epilepsy and oral care.

    Science.gov (United States)

    Fiske, Janice; Boyle, Carole

    2002-05-01

    Epilepsy is a common symptom of an underlying neurological disorder. The seizures can take a variety of forms. Both the condition and its medical management can affect oral health. Prevention of oral disease and carefully planned dental treatment are essential to the well-being of people with epilepsy.

  17. Epilepsi og orale manifestationer

    DEFF Research Database (Denmark)

    Jacobsen, Pernille Endrup; Haubek, Dorte; Østergaard, John Rosendahl

    2016-01-01

    Risiko for sygdom I mundhulen hos patienter med epilepsy Epilepsi er en kronisk neurologisk lidelse, der ofte vil kræve medicinsk behandling for at holde patienterne fri for anfald. Lidelsen kan have betydning for patientens psykosociale og kognitive udvikling, der indirekte kan have betydning...

  18. Personality characteristics and epilepsy

    DEFF Research Database (Denmark)

    Sørensen, A S; Hansen, H; Andersen, R

    1989-01-01

    Patients with a long history of temporal lobe epilepsy or primary generalized epilepsy entered a questionnaire study of personality characteristics, based on a modification of the Bear-Fedio inventory for temporal lobe behavioural syndrome. Psoriasis patients and healthy volunteers served as cont...

  19. Common pediatric epilepsy syndromes.

    Science.gov (United States)

    Park, Jun T; Shahid, Asim M; Jammoul, Adham

    2015-02-01

    Benign rolandic epilepsy (BRE), childhood idiopathic occipital epilepsy (CIOE), childhood absence epilepsy (CAE), and juvenile myoclonic epilepsy (JME) are some of the common epilepsy syndromes in the pediatric age group. Among the four, BRE is the most commonly encountered. BRE remits by age 16 years with many children requiring no treatment. Seizures in CAE also remit at the rate of approximately 80%; whereas, JME is considered a lifelong condition even with the use of antiepileptic drugs (AEDs). Neonates and infants may also present with seizures that are self-limited with no associated psychomotor disturbances. Benign familial neonatal convulsions caused by a channelopathy, and inherited in an autosomal dominant manner, have a favorable outcome with spontaneous resolution. Benign idiopathic neonatal seizures, also referred to as "fifth-day fits," are an example of another epilepsy syndrome in infants that carries a good prognosis. BRE, CIOE, benign familial neonatal convulsions, benign idiopathic neonatal seizures, and benign myoclonic epilepsy in infancy are characterized as "benign" idiopathic age-related epilepsies as they have favorable implications, no structural brain abnormality, are sensitive to AEDs, have a high remission rate, and have no associated psychomotor disturbances. However, sometimes selected patients may have associated comorbidities such as cognitive and language delay for which the term "benign" may not be appropriate.

  20. Stress and childhood epilepsy

    NARCIS (Netherlands)

    Campen, J.S. van

    2015-01-01

    Epilepsy is one of the most common chronic diseases in childhood, characterized by the enduring predisposition to generate epileptic seizures. Children with epilepsy and their parents often report seizures precipitated by stress. In order to increase our understanding of the pathophysiological mecha

  1. Stress and childhood epilepsy

    NARCIS (Netherlands)

    Campen, J.S. van

    2015-01-01

    Epilepsy is one of the most common chronic diseases in childhood, characterized by the enduring predisposition to generate epileptic seizures. Children with epilepsy and their parents often report seizures precipitated by stress. In order to increase our understanding of the pathophysiological

  2. Rational management of epilepsy.

    Science.gov (United States)

    Viswanathan, Venkataraman

    2014-09-01

    Management of epilepsies in children has improved considerably over the last decade, all over the world due to the advances seen in the understanding of the patho-physiology of epileptogenesis, availability of both structural and functional imaging studies along with better quality EEG/video-EEG recordings and the availability of a plethora of newer anti-epileptic drugs which are tailormade to act on specific pathways. In spite of this, there is still a long way to go before one is able to be absolutely rational about which drug to use for which type of epilepsy. There have been a lot of advances in the area of epilepsy surgery and is certainly gaining ground for specific cases. Better understanding of the genetic basis of epilepsies will hopefully lead to a more rational treatment plan in the future. Also, a lot of work needs to be done to dispel various misunderstandings and myths about epilepsy which still exists in our country.

  3. Nuclear imaging in epilepsy

    Energy Technology Data Exchange (ETDEWEB)

    Chun, Kyung Ah [Yeungnam University Hospital, Daegu (Korea, Republic of)

    2007-04-15

    Correct localization of epileptogenic zone is important for the successful epilepsy surgery. Both ictal perfusion single photon emission computed tomography (SPECT) and interictal F-18 fluorodeoxyglucose positron emission tomography (FDG-PET) can provide useful information in the presurgical localization of intractable partial epilepsy. These imaging modalities have excellent diagnostic sensitivity in medial temporal lobe epilepsy and provide good presurgical information in neocortical epilepsy. Also provide functional information about cellular functions to better understand the neurobiology of epilepsy and to better define the ictal onset zone, symptomatogenic zone, propagation pathways, functional deficit zone and surround inhibition zones. Multimodality imaging and developments in analysis methods of ictal perfusion SPECT and new PET ligand other than FDG help to better define the localization.

  4. ADHD in idiopathic epilepsy.

    Science.gov (United States)

    Duran, Marcos H C; Guimarães, Catarina A; Montenegro, Maria Augusta; Neri, Marina L; Guerreiro, Marilisa M

    2014-01-01

    Our aim was to clarify the correlation of attention deficit hyperactivity disorder (ADHD) with epilepsy and behavior problems. This was a cross-sectional study. Sixty children with idiopathic epilepsy were interviewed using the MTA-SNAP IV Teacher and Parent Rating Scale, Vineland Adaptive Behavior Scales and Conners' Rating Scales. We used the chi-square test to analyze the correlation of epilepsy variables in patients with and without ADHD with a significance level of 0.05. Eight patients had ADHD symptoms (13%), seven had the inattentive ADHD subtype and only three had behavioral problems. When epileptic patients with and without ADHD symptoms were compared we found no significant difference in regard to epilepsy variables. All patients were controlled and 43% were either without AED or undergoing withdrawal. Our study revealed a low comorbidity of ADHD symptoms and epilepsy due to low interference of seizures and drug treatment on the comorbid condition.

  5. ADHD in idiopathic epilepsy

    Directory of Open Access Journals (Sweden)

    Marcos H. C. Duran

    2014-01-01

    Full Text Available Our aim was to clarify the correlation of attention deficit hyperactivity disorder (ADHD with epilepsy and behavior problems. This was a cross-sectional study. Sixty children with idiopathic epilepsy were interviewed using the MTA-SNAP IV Teacher and Parent Rating Scale, Vineland Adaptive Behavior Scales and Conners’ Rating Scales. We used the chi-square test to analyze the correlation of epilepsy variables in patients with and without ADHD with a significance level of 0.05. Eight patients had ADHD symptoms (13%, seven had the inattentive ADHD subtype and only three had behavioral problems. When epileptic patients with and without ADHD symptoms were compared we found no significant difference in regard to epilepsy variables. All patients were controlled and 43% were either without AED or undergoing withdrawal. Our study revealed a low comorbidity of ADHD symptoms and epilepsy due to low interference of seizures and drug treatment on the comorbid condition.

  6. Sex, epilepsy, and epigenetics.

    Science.gov (United States)

    Qureshi, Irfan A; Mehler, Mark F

    2014-12-01

    Epilepsy refers to a heterogeneous group of disorders that are associated with a wide range of pathogenic mechanisms, seizure manifestations, comorbidity profiles, and therapeutic responses. These characteristics are all influenced quite significantly by sex. As with other conditions exhibiting such patterns, sex differences in epilepsy are thought to arise-at the most fundamental level-from the "organizational" and "activational" effects of sex hormones as well as from the direct actions of the sex chromosomes. However, our understanding of the specific molecular, cellular, and network level processes responsible for mediating sex differences in epilepsy remains limited. Because increasing evidence suggests that epigenetic mechanisms are involved both in epilepsy and in brain sexual dimorphism, we make the case here that analyzing epigenetic regulation will provide novel insights into the basis for sex differences in epilepsy.

  7. Definition of intractable epilepsy.

    Science.gov (United States)

    Sinha, Shobhit; Siddiqui, Khurram A

    2011-01-01

    Defining intractable epilepsy is essential not only to identify up to 40% of patients refractory to pharmacological management, but also to facilitate selection and comparison of such patients for research purposes. The ideal definition still eludes us. Multiple factors including number of antiepileptic drug (AED) failures, seizure frequency and duration of unresponsiveness, etiology, and epilepsy syndromes are considered in formulating the definition of pharmaco-resistant epilepsy. Most definitions used in the literature agree on the number of AED failures, which seem to be 2 or 3, however, the seizure frequency and time factor are varied. The International League Against Epilepsy proposed a definition of drug-resistant epilepsy as a failure of adequate trials of 2 tolerated and appropriately chosen and used AED schedules. This for now, could provide an operational definition for clinical and research settings. However, with emergence of new data and novel treatments the criteria for intractability may change.

  8. Epilepsy treatment and creativity.

    Science.gov (United States)

    Zubkov, Sarah; Friedman, Daniel

    2016-04-01

    Creativity can be defined as the ability to understand, develop, and express, in a systematic fashion, novel orderly relationships. It is sometimes difficult to separate cognitive skills requisite for the creative process from the drive that generates unique new ideas and associations. Epilepsy itself may affect the creative process. The treatment of epilepsy and its comorbidities, by altering or disrupting the same neural networks through antiseizure drugs (ASDs), treatment of epilepsy comorbidities, ablative surgery, or neurostimulation may also affect creativity. In this review, we discuss the potential mechanisms by which treatment can influence the creative process and review the literature on the consequences of therapy on different aspects of creativity in people with epilepsy. This article is part of a Special Issue entitled "Epilepsy, Art, and Creativity". Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Managing Epilepsy in Pregnancy

    LENUS (Irish Health Repository)

    O Dwyer, V

    2017-02-01

    Epilepsy is one of the commonest medical conditions affecting women of childbearing age1. In the most recent triennial report into maternal deaths in Ireland and the UK, two thirds of women who died had a medical condition. In this report, 14 maternal deaths during pregnancy and up to 42 days postpartum were attributable to epilepsy or seizures; a rate of 0.4 per 100,000 maternities. In 12 of these women’ the cause was sudden unexplained death in epilepsy. Thus, epilepsy remains a high-risk condition in pregnancy. The gold standard of care is a multidisciplinary approach involving obstetricians, a neurologist and an epilepsy nurse specialist2. Like other units in Ireland this multidisciplinary service is currently provided in the National Maternity Hospital’s maternal medicine clinic, in conjunction with neurology services in Beaumont Hospital.

  10. Epilepsy: Asia versus Africa.

    Science.gov (United States)

    Bhalla, Devender; Tchalla, Achille Edem; Marin, Benoît; Ngoungou, Edgard Brice; Tan, Chong Tin; Preux, Pierre-Marie

    2014-09-01

    Is epilepsy truly an "African ailment"? We aimed to determine this, since international health agencies often refer to epilepsy as an African disease and the scientific literature has spoken the same tone. Various published materials, mainly reports, articles, were used to gather Asian and African evidence on various aspects of epilepsy and many of its risk and associated factors. Our results suggest that in no way can epilepsy be considered as an African ailment and such characterization is most likely based on popular beliefs rather than scientific evidence. In comparison to Africa, Asia has a 5.0% greater burden from all diseases, and is 17.0% more affected from neuropsychiatric disorders (that include epilepsy). Given that more countries in Asia are transitioning, there may be large demographic and lifestyle changes in the near future. However these changes are nowhere close to those expected in Africa. Moreover, 23 million Asians have epilepsy in comparison to 3.3 million Africans and 1.2 million sub-Saharan Africans. In comparison to Africa, Asia has more untreated patients, 55.0% more additional epilepsy cases every year, because of its larger population, with greater treatment cost and possibly higher premature mortality. Of several associated factors discussed herein, many have more importance for Asia than Africa. The current state of epilepsy in Asia is far less than ideal and there is an urgent need to recognize and accept the importance of epilepsy in Asia. In no way can epilepsy be considered as an African ailment. This is most likely based on popular beliefs rather than scientific evidence. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here.

  11. Awakening epilepsy ('Aufwach-Epilepsie') revisited.

    Science.gov (United States)

    Niedermeyer, E

    1991-01-01

    The concept of 'awakening epilepsy' (introduced by Janz, 1953) occupies a crucial position for the comprehension of primary generalized epilepsy. The associated electroencephalographic manifestations are discussed and the role of abnormal (paroxysmal) arousal responses ('dyshormia') is stressed. The origin of these bilateral-synchronous discharges appears to be located below the frontal midline scalp region in mesial portions of the supplementary motor region. 'Awakening epilepsy' is also interesting from the viewpoint of sleep research. There is also an important age factor; these seizures (mostly grand mal and classical petit mal absences) are most common in older children, adolescents and young adults. The general management of these patients has to take into account the patient's special vulnerability after a night of poor sleep.

  12. International recommendation for a comprehensive neuropathologic workup of epilepsy surgery brain tissue : A consensus Task Force report from the ILAE Commission on Diagnostic Methods

    NARCIS (Netherlands)

    Blümcke, I.; Aronica, E.; Miyata, H.; Sarnat, H.B.; Thom, M.; Roessler, K.; Rydenhag, B.; Jehi, L.; Krsek, P.; Wiebe, S.; Spreafico, R.

    2016-01-01

    Epilepsy surgery is an effective treatment in many patients with drug-resistant focal epilepsies. An early decision for surgical therapy is facilitated by a magnetic resonance imaging (MRI)-visible brain lesion congruent with the electrophysiologically abnormal brain region. Recent advances in the

  13. [Absence epilepsy models in rodents].

    Science.gov (United States)

    Eguibar, José R; Cortés, M del Carmen

    2010-01-01

    Animal models are a useful tool because it is possible to perform neuroanatomical, electrophysiological and pharmacological studies throughout their development. The most common models for experimental studies of absence seizures are the GAERS (Genetic Absence Epilepsy rat from Strasbourg) and the WAG/Rij (Wistar Absence Glaxo from Rijswik) rats. In WAG/RU rats it has been demonstrated that the perioral region in the somatosensorial cortex shows a zone with hyperexcitability which is the origin of spike wave discharges (SWD). In fact, this cortical area shows modifications in sodium channels which increase the excitability of cortical neurons; for this reason, local application of phenytoin or lidocaine, which block sodium channels, reduce SWD. Ethosuximide decreases and pentylenetetrazol increases SWD in GAERS and WAG/Rij rats. At the Institute of Physiology in the Benemérita Autonomous University of Puebla we have obtained a myelin mutant rat called "taiep", which is the acronym of tremor, ataxia, immobility episodes, epilepsy, and paralysis. This model shows a SWD with higher frequency during awaking periods; the SWD increases with systemic administration of pentylenetetrazol and decreases with ethosuximide. All these findings in animal models are susceptible to be tested in human beings through magneto- and electro-encephalographic recording techniques to discern the source of this type of epilepsy. Thus, in biomedical research, animal models are useful tools to discern the neural and network alterations responsible for the absence seizures, and allow to design of more specific therapeutic options with fewer side effects.

  14. Encapsulated galanin-producing cells attenuate focal epileptic seizures in the hippocampus.

    Science.gov (United States)

    Nikitidou, Litsa; Torp, Malene; Fjord-Larsen, Lone; Kusk, Philip; Wahlberg, Lars U; Kokaia, Mérab

    2014-01-01

    Encapsulated cell biodelivery (ECB) is a relatively safe approach, since the devices can be removed in the event of adverse effects. The main objectives of the present study were to evaluate whether ECB could be a viable alternative of cell therapy for epilepsy. We therefore developed a human cell line producing galanin, a neuropeptide that has been shown to exert inhibitory effects on seizures, most likely acting via decreasing glutamate release from excitatory synapses. To explore whether ECB of genetically modified galanin-producing human cell line could provide seizure-suppressant effects, and test possible translational prospect for clinical application, we implanted ECB devices bilaterally into the hippocampus of rats subjected to rapid kindling, a model for recurrent temporal lobe seizures. Two clones from a genetically modified human cell line secreting different levels of galanin were tested. Electroencephalography (EEG) recordings and stimulations were performed by electrodes implanted into the hippocampus at the same surgical session as ECB devices. One week after the surgery, rapid kindling stimulations were initiated. Enzyme-linked immunosorbent assay (ELISA) measurements prior to device implantation showed a release of galanin on average of 8.3 ng/mL/24 h per device for the low-releasing clone and 12.6 ng/mL/24 h per device for the high-releasing clone. High-releasing galanin-producing ECB devices moderately decreased stimulation-induced focal afterdischarge duration, whereas low-releasing ECB devices had no significant effect. Our study shows that galanin-releasing ECB devices moderately suppress focal stimulation-induced recurrent seizures. Despite this moderate effect, the study provides conceptual proof that ECB could be a viable alternative approach to cell therapy in humans, with the advantage that the treatment could be terminated by removing these devices from the brain. Thereby, this strategy provides a higher level of safety for future

  15. [Clinical and neurophysiologic aspects of surgical treatment of pharmacoresistant forms of epilepsy].

    Science.gov (United States)

    Bersnev, V P; Stepanova, T S; Zotov, Iu V; Kasumov, R D; Iatsuk, S L; Grachev, K V

    2004-01-01

    Surgical treatment of pharmacoresistant forms of epilepsy under neurophysiological monitoring is a key problem studied in A.L. Polenov Russian Neurosurgical Institute (Saint-Petersburg). A summary of long-term studies and main stages of surgical treatment development are presented. The indications and contra-indications, along with basic neurophysiologic strategic and tactic arguments of open and stereotaxic treatment of focal and generalized epilepsy based on neurophysiologic model which determines a role of epileptic focus, epileptic and inhibiting brain systems in spreading and arresting of seizure discharge at each disease stage are formulated. A program of clinico-neurophysiologic monitoring of temporal epilepsy in pre- and intraoperative periods is considered.

  16. Evolution of epilepsy in hemimegalencephaly from infancy to adulthood: Case report and review of the literature.

    Science.gov (United States)

    Ikeda, Kristin M; Mirsattari, Seyed M

    2017-01-01

    Hemimegalencephaly (HME) is a rare disorder of cortical development with overgrowth of one cerebral hemisphere. Patients have intellectual delay, hemiparesis and severe epilepsy. Drug-resistant epilepsy is often treated with a hemispherectomy. We review the literature on HME natural history and report a 26-year-old man with HME who did not undergo hemispherectomy in childhood with recurrent focal convulsive or non-convulsive status epilepticus. Few patients with HME have been followed into adulthood. Reported adult cases have milder epilepsy or underwent hemispherectomy in childhood. Patients surviving to adulthood have poor outcomes, regardless of treatment method, although seizure burden is improved with hemispherectomy.

  17. [Neurophysiological markers of generalized and focal epileptic seizures].

    Science.gov (United States)

    Kravtsova, E Yu; Shulakova, K V

    To identify neurophysiological markers of focal and generalized epileptic seizures in the inter-epileptic period. Sixty-four patients, including 36 with isolated generalized tonic-clonic seizures and 28 with focal seizures, were examined. The control group consisted of 27 healthy people. EEG-video monitoring and bioelectric activity analysis of the brain during wakefulness and day sleep, spectral EEG analysis, quantitative and quality indicators of sleep were used. In generalized epileptic seizures, alpha rhythm is predominantly recorded in the left hemisphere. In wakefulness, the focal epileptiform activity develops during the first two stages of day sleep. In focal epileptic seizures, delta and beta-2 rhythms were recorded in the left hemisphere, regional epileptiform changes are aggravated during the 1st and 2nd stages of slow sleep initiated in the frontal regions. A focal component of the epileptiform activity in the inter-epileptic period in patients with different types of seizures should be taken into account in examination and treatment planning of patients who had difficulties with the diagnosis of epilepsy type.

  18. A DIAGNOSTIC PRACTICE STUDY USING INTERNATIONAL CLASSIFICATION OF EPILEPSIES AND EPILEPTIC SYNDROMES IN 302 CASES

    Institute of Scientific and Technical Information of China (English)

    吴立文; MarkL,Scheuer

    1995-01-01

    We attempted to classify.accprding to the International Classification of Epilepaies and Epileptic Syndromes (1989),302 patients at a tertiary epilepsy referral center,Proportion in categories as defined by the International League Against Epilepsy (ILAE) were as follows: localization-related epilepsies:62.9%,generalized epilepsies:22.2%,epilepsies undetermined whether focal or generalized:14.2%,special syndromes:0.7%.Only 26.8% cases were definitely classified in single diagnostic ILAE categories based on ictal CCTV/EEG recordings.The distribution of epileptic syndromes was different from the previous reports due to various methods of case ascertainment and inclusion criteria.Use of specific criteria for the reliability study of international classification has been proposed.

  19. The occurrence and characteristics of auras in a large epilepsy cohort

    DEFF Research Database (Denmark)

    Nakken, K O; Solaas, M H; Kjeldsen, M J

    2009-01-01

    Objectives - Despite several studies, estimates of the frequency with which auras occur in conjunction with epilepsy continue to be imprecise. The aim of this study was to assess the occurrence and characteristics of auras in a large population-based epilepsy cohort. Materials and methods...... - Subjects with verified epilepsy were recruited from population-based twin registries in the USA, Denmark and Norway. Using a structured interview in which a list of auras was provided, subjects were asked about the warning symptoms preceding their epileptic attacks. Results - 31% of the total sample (n...... = 1897) and 39% of those with active epilepsy (n = 765) had experienced an aura. Six percent reported more than one type. Non-specified auras were most frequently reported (35%), followed by somatosensory (11%) and vertiginous (11%). While the majority of those reporting auras (59%) had focal epilepsies...

  20. Radiological diagnosis in epilepsy; Radiologische Diagnostik bei Epilepsie

    Energy Technology Data Exchange (ETDEWEB)

    Ostertun, B. [Radiologische Universitaetsklinik, Bonn (Germany). Magnetresonanztomographie

    1999-03-01

    Results: Hippocampal sclerosis, the most frequent cause of focal epilepsy, can be detected with 90-98% sensitivity by visual analysis and quantitative signal and volume measurement of the hippocampi in high-resolution coronal T{sub 2}-weighted MR images. Benign tumors, such as gangliogliomas and dysembryoplastic neuoepithelial tumors (DNT), as well as cortical dysplasias are frequently composed of cystic and solid parts, which may show calcification, but never edema. Bloodbrain-barrier disruption as seen in approximately 40% of the benign tumors are the only feature that allows to differentiate them from non-neoplastic dysplasias. In rare cases of totally calcified lesions, CT may be the only diagnostic imaging modality. Proton-density-weighted or FLAIR imaging is essential for the detection of small solid cortical lesion components, because they provide sufficient contrast with adjacent CSF. T{sub 1}-weighted inversion recovery images are most sensitive for the detection of migration and gyration abnormalities. The depiction of calcified lesions and hemosiderin deposits after trauma is most efficient with T{sub 2}* weighted gradient echo sequences. Conclusions: With further rapid improvent of high resolution MRI techniques, the near future will probably show that nearly 100% of focal epilepsies are caused by structural brain abnormalities. With refined imaging techniques applied, the sensitivity of neuroradiological evaluation is 90% at present. Therefore presurgical MRI plays a key role in epilespy surgery. (orig.) [Deutsch] Ergebnisse: Ammonshornsklerosen, die haeufigste Ursache fokaler Epilepsien, werden bei Anwendung hochaufloesender koronarer T{sub 2}-gewichteter Sequenzen durch visuelle Beurteilung und quantitative Messungen von Signal und Volumen der Hippocampi mit 90-98% Sensitivitaet nachgewiesen. Gutartige Tumoren wie Gangliogliome und dysembryoplastische neuroepitheliale Tumoren (DNT) sowie glioneuronale Hamartien weisen gehaeuft zystische Komponenten

  1. Focal and generalized alopecia.

    Science.gov (United States)

    O'Dair, H A; Foster, A P

    1995-07-01

    Focal or generalized alopecia is defined as hair loss affecting the ventral, lateral, perineal, and dorsal aspects of the trunk of the cat, usually in a symmetric pattern. This may be attributable to failure of hair coat production, excess loss of hair due to self trauma, or excess shedding of whole hairs. Self trauma is the most common cause of hair loss and is associated particularly with flea allergy dermatitis. Other causes of hair loss are reviewed.

  2. Proximal Focal Femoral Deficiency

    OpenAIRE

    Vishal Kalia, Vibhuti

    2008-01-01

    Proximal focal femoral deficiency (PFFD) is a developmental disorder of the proximal segment of thefemur and of acetabulum resulting in shortening of the affected limb and impairment of the function. It isa spectrum of congenital osseous anomalies characterized by a deficiency in the structure of the proximalfemur. The diagnosis is often made by radiological evaluation which includes identification and descriptionof PFFD and evaluation of associated limb anomalies by plain radiographs. Contra...

  3. Estimation of brain network ictogenicity predicts outcome from epilepsy surgery

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    Goodfellow, M.; Rummel, C.; Abela, E.; Richardson, M. P.; Schindler, K.; Terry, J. R.

    2016-07-01

    Surgery is a valuable option for pharmacologically intractable epilepsy. However, significant post-operative improvements are not always attained. This is due in part to our incomplete understanding of the seizure generating (ictogenic) capabilities of brain networks. Here we introduce an in silico, model-based framework to study the effects of surgery within ictogenic brain networks. We find that factors conventionally determining the region of tissue to resect, such as the location of focal brain lesions or the presence of epileptiform rhythms, do not necessarily predict the best resection strategy. We validate our framework by analysing electrocorticogram (ECoG) recordings from patients who have undergone epilepsy surgery. We find that when post-operative outcome is good, model predictions for optimal strategies align better with the actual surgery undertaken than when post-operative outcome is poor. Crucially, this allows the prediction of optimal surgical strategies and the provision of quantitative prognoses for patients undergoing epilepsy surgery.

  4. Extensive Focal Epithelial Hyperplasia: A Case Report

    OpenAIRE

    Mansouri, Zahra; Bakhtiari, Sedigheh; Noormohamadi, Robab

    2015-01-01

    Focal epithelial hyperplasia (FEH) or Heck’s disease is a rare viral infection of the oral mucosa caused by human papilloma virus especially subtypes 13 or 32. The frequency of this disease varies widely from one geographic region and ethnic groups to another. This paper reports an Iranian case of extensive focal epithelial hyperplasia. A 35-year-old man with FEH is described, in whom the lesions had persisted for more than 25 years. The lesion was diagnosed according to both clinical and his...

  5. Extensive Focal Epithelial Hyperplasia: A Case Report.

    Science.gov (United States)

    Mansouri, Zahra; Bakhtiari, Sedigheh; Noormohamadi, Robab

    2015-01-01

    Focal epithelial hyperplasia (FEH) or Heck's disease is a rare viral infection of the oral mucosa caused by human papilloma virus especially subtypes 13 or 32. The frequency of this disease varies widely from one geographic region and ethnic groups to another. This paper reports an Iranian case of extensive focal epithelial hyperplasia. A 35-year-old man with FEH is described, in whom the lesions had persisted for more than 25 years. The lesion was diagnosed according to both clinical and histopathological features. Dental practitioner should be aware of these types of lesions and histopathological examination together and a careful clinical observation should be carried out for a definitive diagnosis.

  6. Epilepsy is Dancing.

    Science.gov (United States)

    Tuft, Mia; Gjelsvik, Bergljot; Nakken, Karl O

    2015-10-01

    In "Epilepsy is Dancing", in Antony and the Johnsons' album "The Crying Light"(2009), the lyrics and accompanying music video depicts an epileptic seizure in which the person is transferred to another beautiful and magical world. This may be called "enchanted epilepsy"; i.e., the experience of epilepsy as deeply nourishing and (positively) transforming, is conveyed not only in the lyrics but also the visual and auditory qualities of the video. The seizure in the video gives associations to Shakespeare's "A Midsummer Night's dream". If epilepsy appears in music lyrics, the focus is mostly on negative aspects of the illness, such as horror, fear and repulsive sexuality associated with the fits [1,2]. Contradictory to these lyrics, Anthony and the Johnsons' song is an example of a positive portrayal of epilepsy. It is open to a multitude of meanings, emotional valence and appraisal of epilepsy. By widening the experiential range associated with epileptic seizures, these lyrics highlight the inherently construed nature of epileptic experience. The song stands out in several ways. First, it describes epilepsy in positive terms, prioritising the euphoric, ecstatic, potentially empowering and enhancing aspects of epileptic seizures. Second, the lyrics and accompanying video point to divine experiences associated with epileptic seizures. Through the lyrics and the music video we are, as an audience, able to sense a snicket of an epileptic seizure, but also the universal experience of loosing control.

  7. Psychosocial aspects of epilepsy.

    Science.gov (United States)

    Shah, Pravina

    2002-05-01

    Social attitudes towards epilepsy cause more distress to the patient and his/her near and dear ones, than the disease itself. The major psychosocial issues related to epilepsy are: Quality of medical management, overprotection, education, employment, marriage and pregnancy. Inadequate treatment is the major reason involved in psychosocial issues. Constant overprotection and pampering leads to behavioural pattern which makes epileptic patient dependent for ever. Education is hampered in epileptic persons. Teachers and students should have proper information regarding seizures. If seizures are well controlled, job opportunities increase. Employers and employees need to be educated about epilepsy. Self-employment is the best in epileptic patients. Regarding marriage, each patient is to be judged on individual merits and type of epilepsy. Society needs to be educated about the facts and consequences of epilepsy. Risk of anti-epileptic drug's usage is very insignificant compared to risk of seizures in pregnancy. So girls are advised to seek medical advice before pregnancy and during follow-up. With more and more support from the society, persons with epilepsy will have the courage and confidence to speak about themselves and their illness. It is only then that we will realise that persons with epilepsy are 'normal' or 'near-normal' and this will break the vicious cycle of stigma.

  8. Experimental models of epilepsy

    Directory of Open Access Journals (Sweden)

    Stanojlović Olivera P.

    2004-01-01

    Full Text Available Introduction An epileptic seizure is a clinical event and epilepsy is rather a group of symptoms than a disease. The main features all epilepsies have in common include: spontaneous occurrence, repetitiveness, and ictal correlation within the EEG. Epilepsies are manifested with distinct EEG changes, requiring exact clinical definition and consequential treatment. Current data show that 1% of the world's population (approximately 50 million people suffers from epilepsy, with 25% of patients being refractory to therapy and requiring search for new substances in order to decrease EEG and behavioral manifestations of epilepsies. Material and methods In regard to discovery and testing of anticonvulsant substances the best results were achieved by implementation of experi- mental models. Animal models of epilepsy are useful in acquiring basic knowledge regarding pathogenesis, neurotransmitters (glutamate, receptors (NMDA/AMPA/kainate, propagation of epileptic seizures and preclinical assessment of antiepileptics (competitive and non-competitive NMDA antagonists. Results and conclusions In our lab, we have developed a pharmacologic model of a (metaphit, NMDA and remacemide-cilastatin generalized, reflex, and audiogenic epilepsy. The model is suitable for testing various anticonvulsant substances (e.g. APH, APV, CPP, Mk-801 and potential antiepileptics (e.g. DSIP, its tetra- and octaanalogues.

  9. Art and epilepsy surgery.

    Science.gov (United States)

    Ladino, Lady Diana; Hunter, Gary; Téllez-Zenteno, José Francisco

    2013-10-01

    The impact of health and disease has led many artists to depict these themes for thousands of years. Specifically, epilepsy has been the subject of many famous works, likely because of the dramatic and misunderstood nature of the clinical presentation. It often evokes religious and even mythical processes. Epilepsy surgical treatment has revolutionized the care of selected patients and is a relatively recent advance. Epilepsy surgery has been depicted in very few artistic works. The first portrait showing a potential surgical treatment for patients with epilepsy was painted in the 12th century. During the Renaissance, Bosch famously provided artistic commentary on traditional beliefs in "The stone of madness". Several of these works demonstrate a surgeon extracting a stone from a patient's head, at one time believed to be the source of all "folly", including epileptic seizures, psychosis, intellectual disability, depression, and a variety of other illnesses. There are some contemporary art pieces including themes around epilepsy surgery, all of them depicting ancient Inca Empire procedures such as trepanning. This article reviews the most relevant artistic works related with epilepsy surgery and also its historical context at the time the work was produced. We also present a painting from the Mexican artist Eduardo Urbano Merino that represents the patient's journey through refractory epilepsy, investigations, and ultimately recovery. Through this work, the artist intends to communicate hope and reassurance to patients going through this difficult process.

  10. [Migraine and epilepsy].

    Science.gov (United States)

    Tsuji, Sadatoshi

    2014-01-01

    Migraine and epilepsy are both common episodic disorders that share many clinical features and underlying pathophysiological mechanisms. The comorbidity of these two conditions is well known. However, the temporal association between migraine and epilepsy is a controversial issue, since these two conditions may occur in numerous ways. Four types of association between headache and epileptic seizure are recognized: pre-ictal headache, headache as the expression of an epileptic manifestation, post-ictal headache, and inter-ictal headache. The classification of epilepsy by the International League Against Epilepsy did not refer to the epileptic headache. On the other hand, the International Classification of Headache Disorders, 3rd edition (ICHD-3) defines three entities: migraine aura-triggered seizure which sometimes referred to as migralepsy, hemicrania epileptica, and post-ictal headache. However, ICHD-3 mentions that there is a complex and bidirectional association between migraine and epilepsy. Most of the previous reports of migralepsy corresponded to occipital seizures that mimic migraine with aura. The term migralepsy has recently been criticized. Migraine and epilepsy share several pathophysiological mechanisms which involve neurotransmitters and iron channel dysfunctions. There is the hypothesis of a shared genetic susceptibility to migraine and epilepsy. Strong support of a shared genetic basis comes from familial hemiplegic migraine.

  11. Theory of Mind in Patients with Epilepsy: a Systematic Review and Meta-analysis.

    Science.gov (United States)

    Stewart, Elizabeth; Catroppa, Cathy; Lah, Suncica

    2016-03-01

    The ability to understand our own thoughts, intentions, beliefs and emotions and those of others (Theory of Mind; ToM) is a high-order social cognitive skill that is vital for social interaction and which has been found to be impaired in patients with epilepsy. Studies examining ToM in patients with epilepsy, however, have yielded inconsistent findings. The main aim of this study is to determine whether the magnitude of ToM deficits varies as a function of the site of epilepsy focus and/or the type of ToM task used. Electronic databases searches included Psychinfo, Medline/PubMed and EMBASE. Studies were included if they examined a group of patients with epilepsy and a group of healthy controls, reported original research, were published in the English language in peer reviewed journals, and used one of five empirically validated measures of ToM: False Belief, Reading the Mind in the Eyes Task (RMET), Faux-pas, Strange Stories, Cartoon ToM vignettes. Twelve studies were identified, ten included adults and two included children with epilepsy. Findings revealed marked ToM deficits in adults with focal seizures emanating from core brain regions underpinning ToM: temporal and frontal lobes (frontal lobe epilepsy, FLE; temporal lobe epilepsy, TLE), but not in adults with focal seizures outside the temporal and frontal lobes (extra-TLE/FLE). ToM deficits were also observed in children with generalised seizures (idiopathic generalised epilepsy, IGE). ToM deficits were documented across ToM tasks. In conclusion, ToM deficits represent a robust finding in adults with frontal and temporal epilepsy, but are also found in children with generalised seizures. Further research into ToM is needed, especially in children with epilepsy as early ToM may have cumulative, negative effects on development of social skills that continues into adulthood.

  12. Prognosis of pediatric epilepsy

    Directory of Open Access Journals (Sweden)

    Girish C Nair

    2008-01-01

    Full Text Available Epilepsy is a significant and commonplace neurological disability in the pediatric population. Data from increasingly larger and more representative studies have brought about noteworthy changes in our understanding of the prognosis of epilepsy in the pediatric age-group. Prevalence rates for epilepsy in both the developing and the developed world are surprisingly similar despite distinct differences in incidence and large treatment gaps in the developing world; this strongly points towards the possibility of spontaneous remission, at least in some patients. Prognosis after an isolated first seizure is generally quite favorable, but worsens with recurring seizures, remote symptomatic etiology, and the presence of abnormalities on EEG. Presently available antiepileptic drugs (AEDs are at best seizure suppressant in their action and have not been shown to be antiepileptic in the sense that they alter the long-term prognosis of the epilepsy for the better. Epilepsy syndromes can be considered to belong to distinct groups on the basis of their prognosis. Some have an excellent outcome in terms of seizure freedom and neurological development; yet others have a grim prognosis with respect to these variables. Factors that impact on the prognosis of treated epilepsy are being understood and include the specific etiology, age of onset of epilepsy, and EEG findings. Epileptics, especially those with remote symptomatic seizures and refractory epilepsy, suffer higher mortality as compared to the general population. While the outcomes in terms of seizure freedom in patients with epilepsy appear favorable, disturbing data on psychosocial morbidity are coming to light and are reflected in the lower rates of higher education, employment, marriage, and fertility among epileptics.

  13. Characteristics of headache in children with epilepsy.

    Science.gov (United States)

    Kanemura, Hideaki; Sano, Fumikazu; Ishii, Sayaka; Ohyama, Tetsuo; Sugita, Kanji; Aihara, Masao

    2013-10-01

    The association of headache with seizures is well known to neurologists but poorly understood. The purpose of this prospective study was to evaluate the types and frequency of seizure-associated headaches among pediatric patients with epilepsy, and to identify their risk factors with special attention to the anatomic localization of the epileptogenic focus and seizure classification. Patients with focal and generalized active seizures and on treatment at the time of questionnaire administration were included. Patients were prospectively interviewed by questionnaire as to whether or not they suffered from headaches associated with epileptic seizures. Of 98 patients (age range: 5-18 years), 34 (34.7%) complained of seizure-associated headaches. In patients with seizure-associated headaches, headache was significantly more frequent (31/74, 41.9%) with partial seizures than with generalized seizures (3/24, 12.5%; p=0.012). The frequency of seizure attacks was 4.1 times per year in patients with seizure-associated headache and 1.3 times per year in those with non-seizure-associated headache. Of the 34 patients, 20 (58.8%) complained of headache at the frontal region. The location of headache was not always in agreement with electroencephalographic focus. Headache was more frequent in patients with partial epilepsy and frequent seizures. Copyright © 2013 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  14. Lipid peroxidation in women with epilepsy

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    Deepa D

    2008-01-01

    Full Text Available Background: Lipid peroxidation is an indicator of free radical metabolism and oxidative stress in human beings and other organisms. Malondialdehyde (MDA, an end product of lipid peroxidation, is a metabolite that can be readily estimated in serum samples. Excess oxidative stress may be a final common pathway through which anti epileptic drugs may exert their teratogenic potential in pregnant women with epilepsy. Our objective in this study was to ascertain the variations in malondialdehyde (MDA in women with epilepsy. Material and Methods: This study was carried out in the Kerala Registry of Epilepsy and pregnancy after obtaining clearance from the Institutional Ethics Committee. Informed consent was obtained from all the subjects. The quantitative examination of MDA was performed according to standard procedures. The ideal plasma level of MDA is below 2 nmol/ml. Results: Fifteen women with confirmed epilepsy (mean age 26.9 ± 3.5 were included in the study. Two women were pregnant. MDA levels ranged from 1.7 to 2.8 nmol/ml (mean level = 2.13 ± 0.37 nmol/ml. Eight women (53 % had MDA levels above the upper limit of normal. Three patients had levels above 2.5 nmol/ml, which corresponded to the 75 centile. Conclusions: This study had shown that the estimation of MDA levels in plasma is a convenient method to study lipid peroxidation and thereby oxidative stress in women with epilepsy. Over half of Women With Epilepsy (WWE have excess oxidative stress as indicated by high levels of MDA in the plasma. Correlations between MDA level and characteristics of epilepsy, AED therapy, nutritional status and other medical conditions need to be observed in a larger cohort.

  15. An Integrated Index for the Identification of Focal Electroencephalogram Signals Using Discrete Wavelet Transform and Entropy Measures

    Directory of Open Access Journals (Sweden)

    Rajeev Sharma

    2015-07-01

    Full Text Available The dynamics of brain area influenced by focal epilepsy can be studied using focal and non-focal electroencephalogram (EEG signals. This paper presents a new method to detect focal and non-focal EEG signals based on an integrated index, termed the focal and non-focal index (FNFI, developed using discrete wavelet transform (DWT and entropy features. The DWT decomposes the EEG signals up to six levels, and various entropy measures are computed from approximate and detail coefficients of sub-band signals. The computed entropy measures are average wavelet, permutation, fuzzy and phase entropies. The proposed FNFI developed using permutation, fuzzy and Shannon wavelet entropies is able to clearly discriminate focal and non-focal EEG signals using a single number. Furthermore, these entropy measures are ranked using different techniques, namely the Bhattacharyya space algorithm, Student’s t-test, the Wilcoxon test, the receiver operating characteristic (ROC and entropy. These ranked features are fed to various classifiers, namely k-nearest neighbour (KNN, probabilistic neural network (PNN, fuzzy classifier and least squares support vector machine (LS-SVM, for automated classification of focal and non-focal EEG signals using the minimum number of features. The identification of the focal EEG signals can be helpful to locate the epileptogenic focus.

  16. Epilepsy surgery failure in children: a quantitative and qualitative analysis

    Science.gov (United States)

    Englot, Dario J.; Han, Seunggu J.; Rolston, John D.; Ivan, Michael E.; Kuperman, Rachel A.; Chang, Edward F.; Gupta, Nalin; Sullivan, Joseph E.; Auguste, Kurtis I.

    2015-01-01

    Object Resection is a safe and effective treatment option for children with pharmacoresistant focal epilepsy, but some patients continue experience seizures after surgery. While most studies of pediatric epilepsy surgery focus on predictors of postoperative seizure outcome, these factors are often not modifiable, and the reasons for surgical failure may remain unclear. Methods The authors performed a retrospective cohort study of children and adolescents who received focal resective surgery for pharmacoresistant epilepsy. Both quantitative and qualitative analyses of factors associated with persistent postoperative seizures were conducted. Results Records were reviewed from 110 patients, ranging in age from 6 months to 19 years at the time of surgery, who underwent a total of 115 resections. At a mean 3.1-year follow-up, 76% of patients were free of disabling seizures (Engel Class I outcome). Seizure freedom was predicted by temporal lobe surgery compared with extra-temporal resection, tumor or mesial temporal sclerosis compared with cortical dysplasia or other pathologies, and by a lower preoperative seizure frequency. Factors associated with persistent seizures (Engel Class II–IV outcome) included residual epileptogenic tissue adjacent to the resection cavity (40%), an additional epileptogenic zone distant from the resection cavity (32%), and the presence of a hemispheric epilepsy syndrome (28%). Conclusions While seizure outcomes in pediatric epilepsy surgery may be improved by the use of high-resolution neuroimaging and invasive electrographic studies, a more aggressive resection should be considered in certain patients, including hemispherectomy if a hemispheric epilepsy syndrome is suspected. Family counseling regarding treatment expectations is critical, and reoperation may be warranted in select cases. PMID:25127098

  17. Long-term outcome in pyridoxine-responsive infantile epilepsy.

    Science.gov (United States)

    Riikonen, R; Mankinen, K; Gaily, E

    2015-11-01

    Dose regimens of pyridoxine (vitamin B6) for treatment of infantile spasms have varied from 200 mg/d to 300 mg/kg/d. Only two long-term outcome studies of the treated patients are available. We asked all pediatric neurologists treating pediatric epilepsy in Finland if they had seen patients with pyridoxine-responsive infantile epilepsy. Five children with infantile spasms and hypsarrhythmia and one with focal epilepsy were reported as pyridoxine responders. Data on clinical presentation and outcome were collected from patient charts. All B6 responders had un-known aetiology. Two patients were studied for pyridoxal 5'-phosphate oxidase (PNPO) deficiency and showed negative results. Ages at seizure onset ranged from 4 to 7 months. The maintenance dose of oral pyridoxine was 150 mg/day. Response occurred within 1-to 14 days (mean 5 days). Two patients were treated with concomitant antiepileptic drugs. Duration of pyridoxine therapy varied from 6 weeks to 4 years (mean 26 months). Four patients had later seizure recurrence: one at 15 months with motor seizures (stopped by valproate), another two in adolescence with focal epilepsy and one at 20 years with unclassified epilepsy. Intelligence was normal in five patients and one had a mild mental deficiency. Follow-up ranged from 8.5 to 24 years. Rare patients with infantile epilepsy but not pyridoxine dependency may respond to smaller doses of pyridoxine than reported before. Long-term cognitive outcome appears to be good but late seizure recurrence (in adolescence or in adulthood) occur. So far it is unknown if the response was determined by genetic traits or disease-related factors. Copyright © 2015. Published by Elsevier Ltd.

  18. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.

    Science.gov (United States)

    Zerem, Ayelet; Haginoya, Kazuhiro; Lev, Dorit; Blumkin, Lubov; Kivity, Sara; Linder, Ilan; Shoubridge, Cheryl; Palmer, Elizabeth Emma; Field, Michael; Boyle, Jackie; Chitayat, David; Gaillard, William D; Kossoff, Eric H; Willems, Marjolaine; Geneviève, David; Tran-Mau-Them, Frederic; Epstein, Orna; Heyman, Eli; Dugan, Sarah; Masurel-Paulet, Alice; Piton, Ame'lie; Kleefstra, Tjitske; Pfundt, Rolph; Sato, Ryo; Tzschach, Andreas; Matsumoto, Naomichi; Saitsu, Hirotomo; Leshinsky-Silver, Esther; Lerman-Sagie, Tally

    2016-11-01

    IQSEC2 is an X-linked gene associated with intellectual disability (ID) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants. Forty-eight patients with IQSEC2 variants were identified worldwide through Medline search. Two patients were recruited from our early onset epileptic encephalopathy cohort and one patient from personal communication. The 18 patients who have epilepsy in addition to ID are the subject of this study. Information regarding the 18 patients was ascertained by questionnaire provided to the treating clinicians. Six affected individuals had an inherited IQSEC2 variant and 12 had a de novo one (male-to-female ratio, 12:6). The pathogenic variant types were as follows: missense (8), nonsense (5), frameshift (1), intragenic duplications (2), translocation (1), and insertion (1). An epileptic encephalopathy was diagnosed in 9 (50%) of 18 patients. Seizure onset ranged from 8 months to 4 years; seizure types included spasms, atonic, myoclonic, tonic, absence, focal seizures, and generalized tonic-clonic (GTC) seizures. The electroclinical syndromes could be defined in five patients: late-onset epileptic spasms (three) and Lennox-Gastaut or Lennox-Gastaut-like syndrome (two). Seizures were pharmacoresistant in all affected individuals with epileptic encephalopathy. The epilepsy in the other nine patients had a variable age at onset from infancy to 18 years; seizure types included GTC and absence seizures in the hereditary cases and GTC and focal seizures in de novo cases. Seizures were responsive to medical treatment in most cases. All 18 patients had moderate to profound intellectual disability. Developmental regression, autistic features, hypotonia, strabismus, and white matter changes on brain magnetic resonance imaging (MRI) were prominent features. The phenotypic spectrum of IQSEC2 disorders includes epilepsy and epileptic encephalopathy. Epileptic encephalopathy is a main clinical

  19. [Magnetic resonance measuring and analitic methods in epilepsy].

    Science.gov (United States)

    Barsi, Péter

    2011-09-30

    Neuroradiology and magnetic resonance imaging (MRI) as its leading tool play a basic role in the diagnostics of epilepsy. The result of the MRI examination is of utmost importance in patients with therapy resistent focal epilepsy possibly requiring neurosurgical intervention. Based on the continuously developing MRI techniques, we can use an optimal imaging protocol. Cerebral structures can be evaluated on a microanatomical level on high-resolution images with thin slices. The three-dimensional (3D) sequence has high spatial resolution, properly distinguishes cerebral grey and white matter, provides the possibility of surface rendering and volumetry, as well as an anatomical basis for other methods like tractography, functional MRI and neuronavigation. Diffusion weighted and diffusion tensor imaging (DWI, DTI) and tractography has an important role in differential diagnostics and tractography visualizes the main white matter tracts and their relation with brain pathologies. MR perfusion (MRP) provides help in differential diagnostics and may have a future role in the determination of the epileptogenic focus in multifocal pathologies. MR spectroscopy (MRS) is important in differential diagnostics, lateralization of focal epilepsy and in the confirmation of hippocampal sclerosis. Several of these methods need special hardware, software and expertise, but the basic MRI protocol for epilepsy can be implemented in all modern MR scanners of middle or high field strength.

  20. Medical Marijuana for Epilepsy?

    Science.gov (United States)

    Kolikonda, Murali K; Srinivasan, Kavitha; Enja, Manasa; Sagi, Vishwanath; Lippmann, Steven

    2016-01-01

    Treatment-refractory epilepsy remains an important clinical problem. There is considerable recent interest by the public and physicians in using medical marijuana or its derivatives to treat seizures. The endocannabinoid system has a role in neuronal balance and ictal control. There is clinical evidence of success in diminishing seizure frequencies with cannabis derivatives, but also documentation about exacerbating epilepsy or of no discernible effect. There are lay indications and anecdotal reports of success in attenuating the severity of epilepsy, but without solid investigational corroboration. Marijuana remains largely illegal, and may induce adverse consequences. Clinical applications are not approved, thus are restricted and only recommended in selected treatment unresponsive cases, with appropriate monitoring.

  1. Genetics Home Reference: juvenile myoclonic epilepsy

    Science.gov (United States)

    ... Home Health Conditions juvenile myoclonic epilepsy juvenile myoclonic epilepsy Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). ...

  2. Childhood absence epilepsy successfully treated with the paleolithic ketogenic diet.

    Science.gov (United States)

    Clemens, Zsófia; Kelemen, Anna; Fogarasi, András; Tóth, Csaba

    2013-12-01

    Childhood absence epilepsy is an epilepsy syndrome responding relatively well to the ketogenic diet with one-third of patients becoming seizure-free. Less restrictive variants of the classical ketogenic diet, however, have been shown to confer similar benefits. Beneficial effects of high fat, low-carbohydrate diets are often explained in evolutionary terms. However, the paleolithic diet itself which advocates a return to the human evolutionary diet has not yet been studied in epilepsy. Here, we present a case of a 7-year-old child with absence epilepsy successfully treated with the paleolithic ketogenic diet alone. In addition to seizure freedom achieved within 6 weeks, developmental and behavioral improvements were noted. The child remained seizure-free when subsequently shifted toward a paleolithic diet. It is concluded that the paleolithic ketogenic diet was effective, safe and feasible in the treatment of this case of childhood absence epilepsy.

  3. STUDY OF INTERICTAL E.E.G IN EPILEPSY

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    Usha Rani

    2013-04-01

    Full Text Available ABSTRACT: The present study includes hundred consecutive patie nts with a clinical diagnosis of Epilepsy attending the department of Neurology. All these patients were evaluated clinically and data recorded in proforma. Electroencephalogram ( E.E.G was recorded with 16-channel Electroencephalograph and the standards of normality are established. The Aim of this study is to study the pattern of abnormalities in interictal EEG in Epilepsy. The Objectives of this study are 1. To confirm the diagnosis of epilepsy. 2. To s tudy the EEG abnormalities in relation to different types of epilepsy. 3. To know the distributi on of epilepsy in relation to age and sex. 4. To study the effect of antiepileptic drugs on EEG. 5 . To study the effect of hyperventilation on EEG. 6. To study the effect of photic stimulation on EEG. 7. To study the effect of interval between last seizure and EEG recording on EEG abnor malities. Epilepsy is a very common neurological illness accounting for 10% of patients attending the Neurology Outpatient department. It most commonly affects people in the fir st 3 decades of life. Males seem to be slightly more frequently affected. The diagnosis of epilepsy is most often on clinical grounds; EEG is helpful in supporting the diagnosis of epilepsy in difficult situation and classification of the seizures. Single awake interictal recording is helpful only in approximately 40% of the patients. Provocative procedures like hyperventilation and photic stimulation increase the diagnostic yield, particularly primarily generalized epilepsies. Sleep records to be more informative should be recorded in light sleep. Gener alized seizures either primary or secondary seem to be the commonest type. In patients with a cl inical diagnosis of generalized seizures, EEG may demonstrate focal abnormalities revealing t he true nature of the seizure. Partial seizures may not reveal focal onset in the EEG maki ng classification of the seizures interacts (on

  4. Neural circuit mechanisms of posttraumatic epilepsy

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    Robert F Hunt

    2013-06-01

    Full Text Available Traumatic brain injury (TBI greatly increases the risk for a number of mental health problems and is one of the most common causes of medically intractable epilepsy in humans. Several models of TBI have been developed to investigate the relationship between trauma, seizures, and epilepsy-related changes in neural circuit function. These studies have shown that the brain initiates immediate neuronal and glial responses following an injury, usually leading to significant cell loss in areas of the injured brain. Over time, long-term changes in the organization of neural circuits, particularly in neocortex and hippocampus, lead to an imbalance between excitatory and inhibitory neurotransmission and increased risk for spontaneous seizures. These include alterations to inhibitory interneurons and formation of new, excessive recurrent excitatory synaptic connectivity. Here, we review in vivo models of TBI as well as key cellular mechanisms of synaptic reorganization associated with posttraumatic epilepsy. The potential role of inflammation and increased blood brain barrier permeability in the pathophysiology of posttraumatic epilepsy is also discussed. A better understanding of mechanisms that promote the generation of epileptic activity versus those that promote compensatory brain repair and functional recovery should aid development of successful new therapies for posttraumatic epilepsy.

  5. Neuroactive steroids and their role in epilepsy

    Directory of Open Access Journals (Sweden)

    Chetan Y. Patil

    2012-06-01

    Full Text Available Neuroactive steroids are the certain steroids that alter neuronal excitability via the cell surface through interaction with certain neurotransmitter receptors. Neuroactive steroids regulate physiological functions of the central nervous system and have possible therapeutic potential in neurological diseases. They have been shown to affect neuronal excitability via their interaction with the ligand-gated ion channel family, such as the GABAA receptor by acting genomically as well as nongenomically. Positive modulators of GABAA receptor have anticonvulsant action as they enhance GABAergic transmission thereby increasing the seizure threshold. By virtue of these properties, neurosteroids appear to be relevant to pathophysiology and pharmacological treatment of many neurological diseases including catamenial epilepsy, stress induced epilepsy, temporal lobe epilepsy, alcohol withdrawal seizures, infantile spasm and status epilepticus. So far, only synthetic neurosteroid, ganaxolone has been tried in treatment of epilepsy and has shown good efficacy and tolerability. But, human data of trials are limited and hence, large double-blinded, placebo-controlled, randomized clinical trials are required before their use. The paper reviews the biosynthesis and GABAA receptor modulation of neurosteroids and their potential role in epilepsy. [Int J Basic Clin Pharmacol 2012; 1(3.000: 150-159

  6. Memory Functioning in Children with Epilepsy: Frontal Lobe Epilepsy, Childhood Absence Epilepsy, and Benign Epilepsy with Centrotemporal Spikes

    Directory of Open Access Journals (Sweden)

    Ana Filipa Lopes

    2014-01-01

    Full Text Available Specific cognitive deficits have been identified in children with epilepsy irrespective of results on intelligence tests. Memory deficits are traditionally attributed to temporal lobe epilepsy, whereas the impact of frontal lobe epilepsy on memory functions has remained controversial. The aim of this study was the examination of memory abilities in other childhood common epilepsy syndromes (frontal lobe epilepsy (FLE, childhood absence epilepsy (CAE, and benign epilepsy with centrotemporal spikes (BECTS and the influence of epilepsy-related variables. Memory was examined in 90 children with epilepsy (each epilepsy group consisted of 30 children, aged 6–15, and compared with 30 control children. Children with FLE showed significant deficits in verbal and visual memory. In addition, type of epilepsy, earlier age at epilepsy onset, and longer active duration of epilepsy were associated with memory problems. Seizure frequency and treatment, however, did not influence memory performance. This study indicates that children with FLE show greater risk of developing memory deficits than children with CAE or BECTS, thus highlighting the importance of assessing also memory functions in frontal lobe epilepsy.

  7. Memory functioning in children with epilepsy: frontal lobe epilepsy, childhood absence epilepsy, and benign epilepsy with centrotemporal spikes.

    Science.gov (United States)

    Lopes, Ana Filipa; Monteiro, José Paulo; Fonseca, Maria José; Robalo, Conceição; Simões, Mário Rodrigues

    2014-01-01

    Specific cognitive deficits have been identified in children with epilepsy irrespective of results on intelligence tests. Memory deficits are traditionally attributed to temporal lobe epilepsy, whereas the impact of frontal lobe epilepsy on memory functions has remained controversial. The aim of this study was the examination of memory abilities in other childhood common epilepsy syndromes (frontal lobe epilepsy (FLE), childhood absence epilepsy (CAE), and benign epilepsy with centrotemporal spikes (BECTS)) and the influence of epilepsy-related variables. Memory was examined in 90 children with epilepsy (each epilepsy group consisted of 30 children), aged 6-15, and compared with 30 control children. Children with FLE showed significant deficits in verbal and visual memory. In addition, type of epilepsy, earlier age at epilepsy onset, and longer active duration of epilepsy were associated with memory problems. Seizure frequency and treatment, however, did not influence memory performance. This study indicates that children with FLE show greater risk of developing memory deficits than children with CAE or BECTS, thus highlighting the importance of assessing also memory functions in frontal lobe epilepsy.

  8. Epilepsy: Quality of life and assessment scale evaluation

    Institute of Scientific and Technical Information of China (English)

    Fayun Hu; Xiaoyi Zou

    2008-01-01

    BACKGROUND: Quality of life (QOL) is an important topic in current international research of epilepsy. In countries other than China, QOL in epilepsy has been well studied, and many assessment scales or QOL of epilepsy have been developed and used in the clinical practice. In China, concern for QOL of epilepsy patients is very recent, and QOL assessment scales, which correspond to China's basic conditions, are still needed.OBJECTIVE: This review aimed to analyze the primary influencing factors and assessment scales of QOL in epilepsy, to investigate the topics of current and future research for QOL of epilepsy patients, and to highlight the importance of QOL for epilepsy patients, according to China's basic conditions. RETRIEVAL STRATEGY: Using the terms "quality of life in epilepsy", we computer-retrieved from the PubMed (http://www.ncbi.nlm.nih.gov/PubMed) database human studies published between January 1998 and April 2007 in the English language. A total of 745 manuscripts were searched, of which 243 were review papers. At the same time, we computer-searched the China National Knowledge Infrastructure with the terms "epilepsy and quality and life" in the Chinese language for studies published between 2002 and 2007. Altogether, 181 Chinese literatures were retrieved, 32 of which were from high-impact journals. LITERATURE EVALUATION: The retrieved manuscripts were initially selected, but 50 were kept for further analysis. The selected manuscripts were as follows: 31 Chinese and/or English studies addressed the influencing factors of QOL for epilepsy patients, as well as assessment scales for QOL in different populations of epilepsy patients, of which 5 were review articles and the remaining 26 were clinical studies; and 19 Chinese and/or English literatures were rejected, because they were not in accordance with the inclusive criteria. DATA SYNTHESIS: QOL for epilepsy patients is an emerging field. At present, "the Liverpool group model for determining QOL in

  9. Focal epithelial hyperplasia - an update.

    Science.gov (United States)

    Said, Ahmed K; Leao, Jair C; Fedele, Stefano; Porter, Stephen R

    2013-07-01

    Focal epithelial hyperplasia (FEH) is an asymptomatic benign mucosal disease, which is mostly observed in specific groups in certain geographical regions. FEH is usually a disease of childhood and adolescence and is generally associated with people who live in poverty and of low socioeconomic status. Clinically, FEH is typically characterized by multiple, painless, soft, sessile papules, plaques or nodules, which may coalesce to give rise to larger lesions. Human papillomavirus (HPV), especially genotypes 13 and 32, have been associated and detected in the majority of FEH lesions. The clinical examination and social history often allow diagnosis, but histopathological examination of lesional tissue is usually required to confirm the exact diagnosis. FEH sometimes resolves spontaneously however, treatment is often indicated as a consequence of aesthetic effects or any interference with occlusion. There remains no specific therapy for FEH, although surgical removal, laser excision or possibly topical antiviral agents may be of benefit. There remains no evidence that FEH is potentially malignant.

  10. PSEUDOSEIZURES AND EPILEPSY IN NEUROCYSTICERCOSIS

    Directory of Open Access Journals (Sweden)

    Ibañez-Valdés L de F.

    2003-01-01

    Full Text Available We studied 32 rural patients from the poorest regions in South Africa, diagnosed as epilepsy due to neurocysticercosis presenting pseudoseizures. We found that the common clinical characteristics of this series and its psychological profile such as: duration of events, history of sexual abuse in females, absent of focal neurological signs, vocalization in the middle of the seizures, and lack of post-ictal symptoms were very useful for its differential diagnosis, and the possible difference between the clinical features and psychological profile of those patients and others without PS. Finally, some advices for the management of this condition by family doctors are suggested. ______________ RESUMEN: Estudiamos 32 pacientes provenientes de las áreas rurales mas pobres de Sudáfrica en los cuales se diagnosticó una epilepsia secundaria a neurocisticercosis cerebral y que además presentaban seudo crisis epilépticas. Encontramos un número de características clínicas y psicológicas comunes en este grupo tales como la duracion de las crisis, historia de abuso sexual en las hembras, ausencia de signos neurológicos focales, vocalización en el intervalo entre las crisis y la falta de signos postictales que resultó ser muy útil en el diagnóstico diferencial. Se encontraron además diferencias en las características clínicas y psicológicas estos pacientes con relación a otros que no presentaban pseudocrisis.

  11. Comorbidities of epilepsy

    National Research Council Canada - National Science Library

    H Srinivas; Urvashi Shah

    2017-01-01

    .... This article besides addressing these issues also explores the therapeutic management. A systematic search of PubMed from Jan 2006 to August 2016 was undertaken using the terms "comorbidities" and "epilepsy...

  12. Epilepsy - children - discharge

    Science.gov (United States)

    ... Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 593. Read More Brain aneurysm repair Brain surgery Epilepsy - overview Seizures Stereotactic radiosurgery - ...

  13. Personality characteristics and epilepsy

    DEFF Research Database (Denmark)

    Sørensen, A S; Hansen, H; Andersen, R

    1989-01-01

    Patients with a long history of temporal lobe epilepsy or primary generalized epilepsy entered a questionnaire study of personality characteristics, based on a modification of the Bear-Fedio inventory for temporal lobe behavioural syndrome. Psoriasis patients and healthy volunteers served...... as controls. Four clinical meaningful dimensions of included personality traits were identified: ixoide, ideational, obsessive-compulsive and affective features. Analyses based on the Rasch model approved of all dimensions except for affective features. The epilepsy group obtained the highest scores on all 3...... dimensions, healthy volunteers the lowest, while the psoriasis group repeatedly held an intermediate position in all sets of assessment (subjects, interviewers and relatives). A logistic regression analysis showed ixoide features being most important when the entire epilepsy group was compared with other...

  14. Epilepsy and bipolar disorder.

    Science.gov (United States)

    Knott, Sarah; Forty, Liz; Craddock, Nick; Thomas, Rhys H

    2015-11-01

    It is well recognized that mood disorders and epilepsy commonly co-occur. Despite this, our knowledge regarding the relationship between epilepsy and bipolar disorder is limited. Several shared features between the two disorders, such as their episodic nature and potential to run a chronic course, and the efficacy of some antiepileptic medications in the prophylaxis of both disorders, are often cited as evidence of possible shared underlying pathophysiology. The present paper aims to review the bidirectional associations between epilepsy and bipolar disorder, with a focus on epidemiological links, evidence for shared etiology, and the impact of these disorders on both the individual and wider society. Better recognition and understanding of these two complex disorders, along with an integrated clinical approach, are crucial for improved evaluation and management of comorbid epilepsy and mood disorders.

  15. Employees with Epilepsy

    Science.gov (United States)

    ... alert systems to send message Other Accommodations Attendance/Absenteeism: Seizure activity can affect a person’s attendance at ... JAN suggested using a two‑way radio. A student with epilepsy used hedge-cutters and other landscaping ...

  16. The Possibility of Using Serum Concentrations of the Tumor Necrosis Factor-Alpha as a Biomarker in Mesial Temporal Lobe Epilepsy Associated With the Human Herpes Virus Neuroinfections

    Directory of Open Access Journals (Sweden)

    Yaroslav Ya. Nedopako

    2012-03-01

    Full Text Available In this study, mesial temporal lobe epilepsy (MTLE is shown to be associated with human herpes virus (HHV neuroinfections. We also demonstrate that the epileptic process is associated with an inflammatory reaction, and that the proinflammatory cytokine, the tumor necrosis factor-alpha (TNF-α is able to potentiate the reproduction of the herpesviruses. The study group (SG included 43 patients between 16 and 60 years with MTLE and HHV neuroinfections, diagnosed according to the PCR of the cerebrospinal fluid (CSF, serum or abnormal serum/CSF IgG ratio. The control group (CG included 20 patients of similar age with MTLE, but without the HHV neuroinfections. The concentration of TNF-α in the serum was determined by enzyme-linked immunosorbent assay ("VektorBEST" RF; N=0-50 pg/ml. Patients of the SG had high concentrations of TNF-α in serum (288±44.7 pg/ml, that were significantly higher than in the CG (p<0.05;Z

  17. Apolipoprotein 4 may increase viral load and seizure frequency in mesial temporal lobe epilepsy patients with positive human herpes virus 6B.

    Science.gov (United States)

    Huang, Cheng; Yan, Bo; Lei, Ding; Si, Yang; Li, He; Chen, Ming-Wan; Li, Li; Chen, Fei; Zhou, Qiao; Zhou, Dong; Li, Jin-Mei

    2015-04-23

    This study investigated whether apolipoprotein 4 (ApoE4) was associated with the presence of human herpes virus (HHV)-6B in mesial temporal lobe epilepsy (MTLE). Polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) was used to determine ApoE polymorphism in 46 patients with MTLE and 19 controls. Nested PCR and real-time PCR were applied to determine HHV-6B DNA and immunohistochemistry (IHC) for HHV-6B protein. Viral DNA load was significantly increased in MTLE patients with HHV-6B(+)/ApoE4 compared with those with HHV-6B(+)/non-ApoE4 (p=0.031). Semi-quantitative analysis of IHC showed significantly increased number of positive cells for HHV-6B proteins G116/64/54, P98 and U94 in patients with HHV-6B(+)/ApoE4 than HHV-6B(+)/non-ApoE4 (p=0.009, 0.035 and 0.009, respectively). Patients with HHV-6B(+)/ApoE4 showed higher seizure frequency than those with HHV-6B(+)/non-ApoE4 (p=0.005). There was no significant difference of ApoE alleles between MTLE with and without HHV-6B (p=0.115). ApoE4 was not associated with initial infection of HHV-6B in MTLE. However, ApoE4 may facilitate HHV-6B reactivation, DNA replication, virus protein expression and increase seizure frequency in MTLE. Further investigations are needed to understand the biomolecular mechanism underlying interaction between ApoE and HHV-6B.

  18. Adenosine A2A receptor and ecto-5'-nucleotidase/CD73 are upregulated in hippocampal astrocytes of human patients with mesial temporal lobe epilepsy (MTLE).

    Science.gov (United States)

    Barros-Barbosa, Aurora R; Ferreirinha, Fátima; Oliveira, Ângela; Mendes, Marina; Lobo, M Graça; Santos, Agostinho; Rangel, Rui; Pelletier, Julie; Sévigny, Jean; Cordeiro, J Miguel; Correia-de-Sá, Paulo

    2016-12-01

    Refractoriness to existing medications of up to 80 % of the patients with mesial temporal lobe epilepsy (MTLE) prompts for finding new antiepileptic drug targets. The adenosine A2A receptor emerges as an interesting pharmacological target since its excitatory nature partially counteracts the dominant antiepileptic role of endogenous adenosine acting via inhibitory A1 receptors. Gain of function of the excitatory A2A receptor has been implicated in a significant number of brain pathologies commonly characterized by neuronal excitotoxicity. Here, we investigated changes in the expression and cellular localization of the A2A receptor and of the adenosine-generating enzyme, ecto-5'-nucleotidase/CD73, in the hippocampus of control individuals and MTLE human patients. Western blot analysis indicates that the A2A receptor is more abundant in the hippocampus of MTLE patients compared to control individuals. Immunoreactivity against the A2A receptor predominates in astrocytes staining positively for the glial fibrillary acidic protein (GFAP). No co-localization was observed between the A2A receptor and neuronal cell markers, like synaptotagmin 1/2 (nerve terminals) and neurofilament 200 (axon fibers). Hippocampal astrogliosis observed in MTLE patients was accompanied by a proportionate increase in A2A receptor and ecto-5'-nucleotidase/CD73 immunoreactivities. Given our data, we hypothesize that selective blockade of excessive activation of astrocytic A2A receptors and/or inhibition of surplus adenosine formation by membrane-bound ecto-5'-nucleotidase/CD73 may reduce neuronal excitability, thus providing a novel therapeutic target for drug-refractory seizures in MTLE patients.

  19. A randomized controlled trial of Human Papillomavirus (HPV testing for cervical cancer screening: trial design and preliminary results (HPV FOCAL Trial

    Directory of Open Access Journals (Sweden)

    Smith Laurie W

    2010-03-01

    Full Text Available Abstract Background In the HPV FOCAL trial, we will establish the efficacy of hr-HPV DNA testing as a stand-alone screening test followed by liquid based cytology (LBC triage of hr-HPV-positive women compared to LBC followed by hr-HPV triage with ≥ CIN3 as the outcome. Methods/Design HPV-FOCAL is a randomized, controlled, three-armed study over a four year period conducted in British Columbia. It will recruit 33,000 women aged 25-65 through the province's population based cervical cancer screening program. Control arm: LBC at entry and two years, and combined LBC and hr-HPV at four years among those with initial negative results and hr-HPV triage of ASCUS cases; Two Year Safety Check arm: hr-HPV at entry and LBC at two years in those with initial negative results with LBC triage of hr-HPV positives; Four Year Intervention Arm: hr-HPV at entry and combined hr-HPV and LBC at four years among those with initial negative results with LBC triage of hr-HPV positive cases Discussion To date, 6150 participants have a completed sample and epidemiologic questionnaire. Of the 2019 women enrolled in the control arm, 1908 (94.5% were cytology negative. Women aged 25-29 had the highest rates of HSIL (1.4%. In the safety arm 92.2% of women were hr-HPV negative, with the highest rate of hr-HPV positivity found in 25-29 year old women (23.5%. Similar results were obtained in the intervention arm HPV FOCAL is the first randomized trial in North America to examine hr-HPV testing as the primary screen for cervical cancer within a population-based cervical cancer screening program. Trial Registration International Standard Randomised Controlled Trial Number Register, ISRCTN79347302

  20. Toxoplasma gondii and Epilepsy.

    Science.gov (United States)

    Ayaz, Erol; Türkoğlu, Şule Aydın; Orallar, Hayriye

    2016-06-01

    Toxoplasma gondii is a zoonotic parasite can be seen in all the vital organ; in the acute phase, it can be found in the blood, cerebrospinal fluid, semen, tears, saliva, urine, and in almost all body fluids. Transplasental infection can lead to fetal damage and miscarriage. Its last hosts are felines and intermediate hosts are all mammals, including humans. People infected by the ingestion of meat containing cysts in undercooked or raw, are thrown oocysts with cat felines By taking in water and food, from mother to fetus transplacental way, the infected organ transplantation, blood transfusion, laboratory accidents and kaprofaj transmitted by mechanical vectors of the invertebrates. Suppression of the immune system is being transformed to the shape and texture of the cysts with bradyzoite. The parasite settles in the cells of the tissue cysts and causes change in the cellular mechanisms, such as cytokinin task. Depending on changes and type of neurotransmitter (GABA, glutamate, serotonin, dopamine) levels in CSF in ions (Ca, K, Cl, Mg), it is believed that there is a change in their concentration. In this review, literature about the relationship between T. gondii and epilepsy and epileptiform activity the importance of parasites, which settle in the brain, will be highlighted.

  1. Sex, epilepsy, and epigenetics

    OpenAIRE

    2014-01-01

    Epilepsy refers to a heterogeneous group of disorders that are associated with a wide range of pathogenic mechanisms, seizure manifestations, comorbidity profiles, and therapeutic responses. These characteristics are all influenced quite significantly by sex. As with other conditions exhibiting such patterns, sex differences in epilepsy are thought to arise—at the most fundamental level—from the “organizational” and “activational” effects of sex hormones as well as from the direct actions of ...

  2. Epigenetics and Epilepsy

    OpenAIRE

    2012-01-01

    Seizures can give rise to enduring changes that reflect alterations in gene expression patterns, intra and inter cellular signaling and ultimately network alterations that are a hallmark of epilepsy. A growing body of literature suggests that long-term changes in gene transcription associated with epilepsy are mediated via modulation of chromatin structure. One transcription factor in particular, REST (repressor element 1-silencing transcription factor), has received a lot of attention due to...

  3. Rufinamide for refractory focal seizures: an open-label, multicenter European study.

    Science.gov (United States)

    Coppola, Giangennaro; Zamponi, Nelia; Kluger, Gerhard; Mueller, Arndt; Anna Rita, Mazzotta; Parisi, Pasquale; Isone, Claudia; Santoro, Elena; Curatolo, Paolo; Verrotti, Alberto

    2013-01-01

    The present study aimed to assess the efficacy and tolerability of rufinamide as adjunctive drug for the treatment of a large series of children, adolescents and adults with refractory cryptogenic or symptomatic focal epilepsy. Patients were recruited in a prospective, add-on, open-label treatment study from six Italian and one German centers for pediatric and adolescent epilepsy care. Inclusion criteria were: (1) age 3 years or more; (2) diagnosis of cryptogenic or symptomatic focal epilepsy refractory to at least three previous antiepileptic drugs (AEDs), alone or in combination; (3) more than one seizure per month in the last 6 months; (4) use of at least one other AED, but no more than three, at baseline; (5) informed consent from parents and/or caregivers. Sixty-eight patients (40 males, 28 females), aged between 3 and 63 years (mean 19.9 years, median 16.0)±SD 12.58, with cryptogenic (28 pts, 41.2%) or symptomatic focal epilepsy (40 pts, 58.8%), were recruited in the study. After a mean follow-up period of 10.4±10.29 months, twenty-two patients (32.3%) had a 50-99% seizure reduction, and none became seizure-free. Twelve patients (17.6%) had a 25-49% seizure decrease, while in 30 (44.1%) seizure frequency was unchanged. A seizure worsening was reported in 5 patients (7.3%). A better response to rufinamide occurred in frontal lobe seizures (51.6%) and secondary generalized tonic-clonic seizures (50%). Rufinamide was effective against focal-onset seizures, particularly in the treatment of secondary generalized frontal lobe seizures. Copyright © 2012 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  4. Epilepsy and homicide

    Science.gov (United States)

    Pandya, Neil S; Vrbancic, Mirna; Ladino, Lady Diana; Téllez-Zenteno, José F

    2013-01-01

    Purpose We report the rare case of a patient with intractable epilepsy and escalating aggression, resulting in murder, who had complete resolution of her seizures and explosive behavior following a right temporal lobectomy. Patients and methods We searched the available literature from 1880 to 2013 for cases of epilepsy being used as a court defense for murder and collected information regarding the final sentencing outcomes. We selected 15 papers with a total of 50 homicides. Results We describe the case of a 47-year-old woman with drug-resistant right temporal epilepsy who developed increasing emotional lability, outbursts of anger and escalating violent behavior culminating in a violent murder. The patient was imprisoned while awaiting trial. In the interim, she underwent a successful temporal lobectomy with full resolution of seizures, interictal rage and aggressive behaviors. After the surgery, her charges were downgraded and she was transferred to a psychiatric facility. Conclusion The aggressive behavior associated with epilepsy has been described in the literature for over a century. A link between epilepsy and aggression has been disproportionally emphasized. These patients share some common characteristics: they are usually young men with a long history of epilepsy and lower than average intelligence. The violent act is postictal, sudden-onset, more likely to occur after a cluster of seizures and is usually related with alcohol abuse. PMID:23700367

  5. Epilepsy and physical exercise.

    Science.gov (United States)

    Pimentel, José; Tojal, Raquel; Morgado, Joana

    2015-02-01

    Epilepsy is one of the commonest neurologic diseases and has always been associated with stigma. In the interest of safety, the activities of persons with epilepsy (PWE) are often restricted. In keeping with this, physical exercise has often been discouraged. The precise nature of a person's seizures (or whether seizures were provoked or unprovoked) may not have been considered. Although there has been a change in attitude over the last few decades, the exact role of exercise in inducing seizures or aggravating epilepsy still remains a matter of discussion among experts in the field. Based mainly on retrospective, but also on prospective, population and animal-based research, the hypothesis that physical exercise is prejudicial has been slowly replaced by the realization that physical exercise might actually be beneficial for PWE. The benefits are related to improvement of physical and mental health parameters and social integration and reduction in markers of stress, epileptiform activity and the number of seizures. Nowadays, the general consensus is that there should be no restrictions to the practice of physical exercise in people with controlled epilepsy, except for scuba diving, skydiving and other sports at heights. Whilst broader restrictions apply for patients with uncontrolled epilepsy, individual risk assessments taking into account the seizure types, frequency, patterns or triggers may allow PWE to enjoy a wide range of physical activities. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  6. Epigenetics and epilepsy.

    Science.gov (United States)

    Roopra, Avtar; Dingledine, Raymond; Hsieh, Jenny

    2012-12-01

    Seizures can give rise to enduring changes that reflect alterations in gene-expression patterns, intracellular and intercellular signaling, and ultimately network alterations that are a hallmark of epilepsy. A growing body of literature suggests that long-term changes in gene transcription associated with epilepsy are mediated via modulation of chromatin structure. One transcription factor in particular, repressor element 1-silencing transcription factor (REST), has received a lot of attention due to the possibility that it may control fundamental transcription patterns that drive circuit excitability, seizures, and epilepsy. REST represses a suite of genes in the nervous system by utilizing nuclear protein complexes that were originally identified as mediators of epigenetic inheritance. Epigenetics has traditionally referred to mechanisms that allow a heritable change in gene expression in the absence of DNA mutation. However a more contemporaneous definition acknowledges that many of the mechanisms used to perpetuate epigenetic traits in dividing cells are utilized by neurons to control activity-dependent gene expression. This review surveys what is currently understood about the role of epigenetic mechanisms in epilepsy. We discuss how REST controls gene expression to affect circuit excitability and neurogenesis in epilepsy. We also discuss how the repressor methyl-CpG-binding protein 2 (MeCP2) and activator cyclic AMP response element binding protein (CREB) regulate neuronal activity and are themselves controlled by activity. Finally we highlight possible future directions in the field of epigenetics and epilepsy.

  7. Dilemmas in diagnostics and therapy of rolandic epilepsy

    Directory of Open Access Journals (Sweden)

    Škrijelj Fadil

    2011-01-01

    Full Text Available Introduction. It is considered that around 20%-30% of patients of all ages and in all continents have wrong epilepsy diagnoses. Diagnostic and consequential therapeutic errors appear, most often, when an adequate diagnostics is not applied. Benign focal epilepsy of childhoods with centrotemporal spikes-rolandic epilepsy, brings very often to diagnostic and therapeutic problems because of persistence of epilepticforms changes in an electroencephalography (EEG recording, several years after establishment of good control over seizures. Case report. We presented 8.5 years-old girl, with the first and the only epileptic seizure at the age of 5, during her sleep. With a clear correlation of EEG record, benign rolandic epilepsy was diagnosed, so the therapy with valproate was introduced. There were no seizures after three years of its implementation. Because of epileptic-forms changes that still persisted in EEG record during her sleep, it was suggested to further use valproate. However, after reconsidering all circumstances it was concluded that the AED should bee slowly reduced up to its exclusion. After a complete stoppage of the therapy, the patient did not have any epileptic seizure for nine months, although EEG still remained pathologically changed during her sleep. Conclusion. A changed EEG record in a patient with rolandic epilepsy must not be a predictor of continuation of antiepileptic drugs therapy, after 2-3 years of successful seizures remission.

  8. Prevalence and characteristics of epilepsy in the Belgian shepherd variants Groenendael and Tervueren born in Denmark 1995–2004

    Directory of Open Access Journals (Sweden)

    Fredholm Merete

    2008-12-01

    Full Text Available Abstract Background The Belgian shepherd Groenendael and Tervueren is believed to be at higher risk of developing epilepsy than dogs of the common population. This epidemiological study was designed to estimate the prevalence of epilepsy in the Danish population of Groenendael and Tervueren born between 1995 and 2004. Furthermore, it was the intention to describe the clinical manifestation (seizure types and phenomenology of epilepsy and to identify risk factors for euthanasia once the dog was diagnosed as having epilepsy. Methods All owners of Groenendael and Tervueren dogs born between January 1995 and December 2004 and registered in the Danish Kennel Club (1,248 dogs were contacted and asked to answer a mailed questionnaire concerning epilepsy. Positive responders were subsequently validated in a follow-up interview conducted by telephone using a standardized questionnaire. Owners were questioned about age at first seizure, seizure frequency, seizure duration, a detailed description of seizure phenomenology, post-ictal signs and if a veterinarian had diagnosed the dog with epilepsy. Results Prevalence of epilepsy was estimated at 9.5%. Mean age of epilepsy debut was 3.3 years (range 0.5–8.0 years. There was an almost equal number of Groenendael (25 and Tervueren (24. The distribution of females and males was 31 and 18 respectively. Twenty-five per cent experienced focal seizures, 53% experienced focal seizures with secondary generalization and 18% experienced primary generalized seizures. In four percent seizures were unclassifiable. The most commonly reported focal seizure phenomenology included ataxia, crawling, swaying, fearful behavior, salivation, excessive attention seeking and disorientation. In 16% of the cases, epilepsy led to euthanasia. Intact dogs with epilepsy had a significantly increased risk of being euthanized because of epilepsy compared to neutered dogs with epilepsy. In 22% of the cases the owners reported that anxiety

  9. Childhood epilepsy in Ilorin, Nigeria.

    Science.gov (United States)

    Ojuawo, A; Joiner, K T

    1997-02-01

    Ninety eight children with epilepsy attending the Neurology clinic, University of Ilorin Teaching Hospital over a two year period were studied prospectively. Males were more affected than females in a ratio of 5:3. Generalised tonic-clonic seizures accounted for 62.2% of the cases, and partial seizures for 17.4%. Infantile spasms were seen exclusively in infants less than two years old and absence and generalised seizures in children more than three years of age. Skull radiography showed abnormal findings in 11.2%. Ectroencephalography showed typical findings in 43.9%. Hemiplegia was the most common neurological sequelae (30.3%). Other sequelae include hyperactivity, irrational behaviour, expressive aphasia, mental subnormality, deafness, and blindness in that order. Therapy with a single appropriate anticonvulsant was usually effective for seizure control except in some patients with focal seizures, infantile spasms, severely delayed developmental milestones and prolonged seizures. Poor drug compliance remains the major constraint to adequate seizure control, further compounded in this environment by nonavailability of drugs and unaffordable costs.

  10. [Astrocytoma and epilepsy. Clinical case].

    Science.gov (United States)

    Moreno-Jiménez, Sergio; Miranda-Fernández, Karen Alejandra; García Gutiérrez, Mónica; Vázquez-Estrada, Norma; Müller-Grohmann, Stephanie; Flores-Vázquez, Fabiola

    2016-07-11

    Pilocytic astrocytoma is a rare tumour, usually occurring in paediatric ages, and mainly located in the posterior fossa. It can cause hydrocephalus and intracranial hypertension and, less frequently, seizures, or a focal neurological deficit. The main imaging study by magnetic resonance imaging, which shows a tumour with solid and cystic components without peri-lesional swelling. The election treatment is surgical, and the patient is considered cured if a total resection is accomplished. The case is presented of 22-year-old female patient with a supratentorial pilocytic astrocytoma and epilepsy. Histopathology reported a low grade glial proliferation, with an extensive fibrillar matrix, small cells without atypia, extensive calcifications and piloid areas consisting of bipolar fusiform cells, and some Rosenthal fibres. There were also spongiotic areas consisting of multipolar cells and associated microcysts. The final report was a pilocytic astrocytoma. Pilocytic astrocytoma is more frequent in paediatric patients and in the posterior fossa. The case presented is of a young female adult with supratentorial location, making it a special case. The surgery achieved a total resection. The long-term prognosis is good, but it is necessary to perform a follow-up, particularly in adult patients because of a higher risk of recurrence. Copyright © 2016 Academia Mexicana de Cirugía A.C. Publicado por Masson Doyma México S.A. All rights reserved.

  11. Expression of human epileptic temporal lobe neurotransmitter receptors in Xenopus oocytes: An innovative approach to study epilepsy

    Science.gov (United States)

    Palma, Eleonora; Esposito, Vincenzo; Mileo, Anna Maria; Di Gennaro, Giancarlo; Quarato, Pierpaolo; Giangaspero, Felice; Scoppetta, Ciriaco; Onorati, Paolo; Trettel, Flavia; Miledi, Ricardo; Eusebi, Fabrizio

    2002-01-01

    Poly(A+) RNA was extracted from the temporal lobe (TL) of medically intractable epileptic patients which underwent surgical TL resection. Injection of this mRNA into Xenopus oocytes led to the expression of ionotropic receptors for γ-aminobutyric acid (GABA), kainate (KAI) and α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA). Membrane currents elicited by GABA inverted polarity at −15 mV, close to the oocyte's chloride equilibrium potential, were inhibited by bicuculline, and were potentiated by pentobarbital and flunitrazepam. These basic characteristics were also displayed by GABA currents elicited in oocytes injected with mRNAs isolated from human TL glioma (TLG) or from mouse TL. However, the GABA receptors expressed by the epileptic TL mRNA exhibited some unusual properties, consisting in a rapid current run-down after repetitive GABA applications and a large EC50 (125 μM). AMPA alone evoked very small or nil currents, whereas KAI induced larger currents. Nevertheless, upon cyclothiazide treatment, AMPA elicited substantial currents that, like the KAI currents, were inhibited by 6-cyano-7-nitroquinoxaline-2,3-dione (CNQX). Furthermore, the glutamate receptor 5 (GluR5) agonist, ATPA, failed to evoke an obvious current although both RT-PCR and Western blot analyses showed GluR5 expression in the epileptic TL. Oocytes injected with mouse TL or human TLG mRNAs generated KAI and AMPA currents similar to those evoked in oocytes injected with epileptic TL mRNA but, in contrast to these, the mouse TL and human TLG oocytes were also responsive to ATPA. Our findings are in accord with the concept that both a depression of GABA inhibition and a dysfunction of the KAI-receptor system maintain a high neuronal excitability that results in epileptic seizures. PMID:12409614

  12. Pre-Surgical Evaluation of Intractable Epilepsy in Children

    Directory of Open Access Journals (Sweden)

    Hadi KAZEMI

    2011-05-01

    Full Text Available

    Objective
    This review summarizes some patterns of pre-surgical evaluation of epilepsyin children with medically refractory seizures. Epilepsy surgery is a valuabletherapeutic option for many children with intractable epilepsy. The most effectivetreatment for intractable partial epilepsy is a focal cortical resection with excisionof the area of ictal onset and initial seizure propagation (the epileptogenic zone.EEG monitoring continues to prove indispensable in pre-surgical planning ofrefractory epileptic patients by defining the epileptogenic zone. Technologicalprogresses in both structural and functional neuroimaging techniques have ledmany medical centers to consider surgical treatment of epilepsy. In childrenundergoing pre-surgical evaluation, the goals of neuroimaging studies includethe identification of structural abnormalities in the brain, eloquent regions of thebrain including language, memory, and sensorimotor functions, and the relationof these regions to the potential epileptogenic region. Neuropsychological testingplays a crucial role in assessing the potential impact of surgery on cognitivefunction of the patients and helps in lateralizing the cerebral hemispheredominant for verbal and nonverbal function in older children. The Wada testis an invasive procedure to determine language dominance and can be usedto assess the risk of postoperative memory deficits in children with temporallobe epilepsy. Some children scheduled for resection still need to undergofurther precise localization of the epileptogenic zone and functional mappingwith invasive EEG monitoring through intracranial subdural grid and/or depthelectrodes. Epilepsy surgery has the potential of changing the life quality ofchildren by improving or eliminating seizures in carefully selected patients.
    Key Words:
    Rrefractory epilepsy; seizure; neu