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Sample records for idiopathic epilepsy caused

  1. 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...

  2. ADHD in idiopathic epilepsy.

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    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.

  3. ADHD in idiopathic epilepsy

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    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.

  4. Gastaut type idiopathic occipital epilepsy

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    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. 

  5. Qualitative Dermatoglyphics In Idiopathic Epilepsy

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    Ranganath Priya

    2004-01-01

    Full Text Available Genetic aetiology has been proposed for both idiopathic epilepsy and dermatoglyphics. Hence, the present study has been undertaken to find out the existence of any correlation between dermatoglyphics and idiopathic epilepsy. Material consisted of 100 patients (58 males and 42 females and 100 controls (52 males and 48 females. Patient′s age ranged from 5 to 40 years and controls were between 18 and 25 years. Dermatoglyphics were obtained by painting method. Qualitative parameters observed were percentage frequency of fingerprint patterns (loops, whorls and arches,, patterns in hypothenar area/ interdigital are and flexion creases (Simian crease, sydney line. On comparison with controls, in males, with hands combined, loops (52.24% and arches (7.93% were increased and whorls (39.83% were decreased (p<0.05. In females, with hands combined, arches (13.1% and whorls (36.43% were increased and loops (50.48% were decreased (p< 0.03. Significant differences have not been observed for the patterns in hypothenar area /interdigital area and flexion creases. These dermatoglyphics features could be used as additional markers to evaluate patients of epilepsy.

  6. 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

  7. A variant of idiopathic epilepsy: Clinical note

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    V. A. Karlov

    2015-01-01

    Full Text Available The paper describes a clinical case of idiopathic generalized epilepsy with a variable phenotype, a similar type of epileptiform activity in the second stage of sleep, and a similar genotype in siblings. The onset of seizures was observed after closed brain injury in both cases. The sister had myoclonic seizures and her brother had generalized convulsive seizures late in the evening. Idiopathic generalized epilepsy with generalized convulsive seizures appears as generalized tonic-clonic seizures on awakening. But in a number of cases, these seizures may occur when going to sleep. The brother has supposedly idiopathic generalized epilepsy with generalized tonicclonic seizures and his sister has juvenile myoclonic epilepsy, as indicated by her age, hereditary predisposition, phenobarbital-provoked seizures (the latter are also observed in his brother, an electrographic pattern, and the efficacy of Keppra and Topamax. 

  8. The prognosis of idiopathic generalized epilepsy.

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    Seneviratne, Udaya; Cook, Mark; D'Souza, Wendyl

    2012-12-01

    Prognosis describes the trajectory and long-term outcome of a condition. Most studies indicate a better prognosis in idiopathic generalized epilepsy (IGE) in comparison with other epilepsy syndromes. Studies looking at the long-term outcome of different IGE syndromes are relatively scant. Childhood absence epilepsy appears to have a higher rate of remission compared to juvenile absence epilepsy. In absence epilepsies, development of myoclonus and generalized tonic-clonic seizures predicts lower likelihood of remission. Although most patients with juvenile myoclonic epilepsy (JME) achieve remission on antiepileptic drug therapy, remission without treatment. Data on the prognosis of other IGE syndromes are scarce. There are contradictory findings reported on the value of electroencephalography as a predictor of prognosis. Comparisons are made difficult by study heterogeneity, particularly in methodology and diagnostic criteria.

  9. Zonisamide monotherapy for idiopathic epilepsy in dogs.

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    Chung, J Y; Hwang, C Y; Chae, J S; Ahn, J O; Kim, T H; Seo, K W; Lee, S Y; Youn, H Y

    2012-11-01

    To evaluate the efficacy of zonisamide as a monotherapy in dogs with idiopathic epileptic seizure. The experiment was conducted on 10 dogs with idiopathic epilepsy that were treated at the Seoul National University Hospital for Animals. A diagnosis was conducted based on physical and neurologic examination, complete blood count and chemical analysis, magnetic resonance imaging and cerebrospinal fluid analyses. Idiopathic epilepsy was diagnosed when all of these examinations were normal. Oral zonisamide was administrated to 10 dogs with idiopathic epilepsy at 5-15 mg/kg per os every 12 h to achieve a concentration of zonisamide in serum of 10-40 μg/mL. The frequency of seizures before and after the administration of zonisamide therapy was recorded and the concentrations of zonisamide in serum were measured. Six (60%) of the dogs were favourable responders to treatment, showing a ≥50% reduction in monthly frequency of seizures. Of the remaining four, two dogs did not show a reduction and the other two showed an increase in frequency of seizures. The mean dosage of zonisamide for favourable responders was 7.92 (SD 3.79) mg/kg, which was administered orally twice a day. Only one dog, which was one of the unfavourable responders in the whole study, experienced mild side effects. Among the dogs treated with oral zonisamide, 60% responded favourably. The effect of zonisamide as an anticonvulsant drug was demonstrated in this study. Based on these results, zonisamide monotherapy is effective in some dogs with idiopathic epilepsy.

  10. The concept of symptomatic epilepsy and the complexities of assigning cause in epilepsy.

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    Shorvon, Simon

    2014-03-01

    The concept of symptomatic epilepsy and the difficulties in assigning cause in epilepsy are described. A historical review is given, emphasizing aspects of the history which are relevant today. The historical review is divided into three approximately semicentenial periods (1860-1910, 1910-1960, 1960-present). A definition of symptomatic epilepsy and this is followed by listing of causes of symptomatic epilepsy. The fact that not all the causes of idiopathic epilepsy are genetic is discussed. A category of provoked epilepsy is proposed. The complexities in assigning cause include the following: the multifactorial nature of epilepsy, the distinction between remote and proximate causes, the role of nongenetic factors in idiopathic epilepsy, the role of investigation in determining the range of causes, the fact that not all symptomatic epilepsy is acquired, the nosological position of provoked epilepsy and the view of epilepsy as a process, and the differentiation of new-onset and established epilepsy. The newly proposed ILAE classification of epilepsy and its changes in terminologies and the difficulties in the concept of acute symptomatic epilepsy are discussed, including the inconsistencies and gray areas and the distinction between idiopathic, symptomatic, and provoked epilepsies. Points to be considered in future work are listed.

  11. Genetics of idiopathic generalized epilepsy: An overview

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    D. K. V. Prasad

    2013-01-01

    Full Text Available Idiopathic generalized epilepsy (IGE is a common type of epilepsy. Strong support for a genetic role in IGE comes from twin and family studies. Several subtypes of IGE have been reported but families often have members affected with different subtypes. Major advances have been made in the understanding of genetic basis of monogenic inherited epilepsies. However, most IGEs are complex genetic diseases and some susceptible IGE genes are shared across subtypes that determine subtypes in specific combinations. The high throughput technologies like deoxyribonucleic acid microarrays and sequencing technologies have the potential to identify causative genes or loci in non-familial cases.

  12. Neocortical gamma oscillations in idiopathic generalized epilepsy

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    Benedek, Krisztina; Berenyi, Antal; Gombkoto, Peter

    2016-01-01

    Objective: Absence seizures in patients with idiopathic generalized epilepsy (IGE) may in part be explained by a decrease in phasic GABAA (type-A c-aminobutyric acid) receptor function, but the mechanisms are only partly understood. Here we studied the relation between ictal and interictal spike-...

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

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    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. Gastaut type idiopathic childhood occipital epilepsy.

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    Ferrari-Marinho, Taissa; Macedo, Eugenia Fialho; Costa Neves, Rafael Scarpa; Costa, Lívia Vianez; Tudesco, Ivanda S S; Carvalho, Kelly C; Carrete, Henrique; Caboclo, Luis Otavio; Yacubian, Elza Marcia; Hamad, Ana Paula

    2013-03-01

    Gastaut type idiopathic childhood occipital epilepsy is an uncommon epileptic syndrome characterised by frequent seizures, most commonly presenting as elementary visual hallucinations or blindness. Other occipital (non-visual) symptoms may also occur. Interictal EEG typically shows occipital paroxysms, often with fixation-off sensitivity. Ictal EEG is usually characterised by interruption by paroxysms and sudden appearance of low-voltage, occipital, fast rhythm and/or spikes. Despite well described clinical and EEG patterns, to our knowledge, there are very few reports in the literature with video-EEG recording of either seizure semiology or fixation-off phenomena. We present a video-EEG recording of a 12-year-old girl with Gastaut type epilepsy, illustrating the interictal and ictal aspects of this syndrome. Our aim was to demonstrate the clinical and neurophysiological pattern of a typical seizure of Gastaut type epilepsy, as well as the fixation-off phenomena, in order to further clarify the typical presentation of this syndrome. [Published with video sequences].

  15. Candidate genes for idiopathic epilepsy in four dog breeds

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    Mickelson James R

    2011-04-01

    Full Text Available Abstract Background Idiopathic epilepsy (IE is a naturally occurring and significant seizure disorder affecting all dog breeds. Because dog breeds are genetically isolated populations, it is possible that IE is attributable to common founders and is genetically homogenous within breeds. In humans, a number of mutations, the majority of which are genes encoding ion channels, neurotransmitters, or their regulatory subunits, have been discovered to cause rare, specific types of IE. It was hypothesized that there are simple genetic bases for IE in some purebred dog breeds, specifically in Vizslas, English Springer Spaniels (ESS, Greater Swiss Mountain Dogs (GSMD, and Beagles, and that the gene(s responsible may, in some cases, be the same as those already discovered in humans. Results Candidate genes known to be involved in human epilepsy, along with selected additional genes in the same gene families that are involved in murine epilepsy or are expressed in neural tissue, were examined in populations of affected and unaffected dogs. Microsatellite markers in close proximity to each candidate gene were genotyped and subjected to two-point linkage in Vizslas, and association analysis in ESS, GSMD and Beagles. Conclusions Most of these candidate genes were not significantly associated with IE in these four dog breeds, while a few genes remained inconclusive. Other genes not included in this study may still be causing monogenic IE in these breeds or, like many cases of human IE, the disease in dogs may be likewise polygenic.

  16. Functional neuroimaging abnormalities in idiopathic generalized epilepsy

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    Megan L. McGill

    2014-01-01

    Full Text Available Magnetic resonance imaging (MRI techniques have been used to quantitatively assess focal and network abnormalities. Idiopathic generalized epilepsy (IGE is characterized by bilateral synchronous spike–wave discharges on electroencephalography (EEG but normal clinical MRI. Dysfunctions involving the neocortex, particularly the prefrontal cortex, and thalamus likely contribute to seizure activity. To identify possible morphometric and functional differences in the brains of IGE patients and normal controls, we employed measures of thalamic volumes, cortical thickness, gray–white blurring, fractional anisotropy (FA measures from diffusion tensor imaging (DTI and fractional amplitude of low frequency fluctuations (fALFF in thalamic subregions from resting state functional MRI. Data from 27 patients with IGE and 27 age- and sex-matched controls showed similar thalamic volumes, cortical thickness and gray–white contrast. There were no differences in FA values on DTI in tracts connecting the thalamus and prefrontal cortex. Functional analysis revealed decreased fALFF in the prefrontal cortex (PFC subregion of the thalamus in patients with IGE. We provide minimum detectable effect sizes for each measure used in the study. Our analysis indicates that fMRI-based methods are more sensitive than quantitative structural techniques for characterizing brain abnormalities in IGE.

  17. Ictal epileptic headache as "subtle" symptom in generalized idiopathic epilepsy.

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    Fanella, Martina; Fattouch, Jinane; Casciato, Sara; Lapenta, Leonardo; Morano, Alessandra; Egeo, Gabriella; Manfredi, Mario; Prencipe, Massimiliano; Giallonardo, Anna Teresa; Di Bonaventura, Carlo

    2012-04-01

    Epilepsy and migraine are common neurologic chronic disorders with episodic manifestations characterized by recurrent attacks and a return to baseline conditions between attacks. Epilepsy and migraine are frequently observed in comorbidity, with the occurrence of one disorder increasing the probability of the other: Migraine occurs in about one-fourth of patients with epilepsy, whereas epilepsy is present in 8-15% of patients with migraine. The link between headache and seizures is controversial and multifactorial. In epilepsy, headache can be seen as a preictal, ictal, or postictal phenomenon. In this report, we describe a case of a 37-year-old patient, affected by both drug-resistant generalized idiopathic epilepsy and headache, who displayed the sudden onset of a headache attack referred during a 24-h electroencephalography (EEG). The EEG tracing during this event revealed the activation of subcontinuous epileptic activity consisting of generalized spike-wave discharges (GSWDs) and generalized polyspike and wave discharges (GPSWDs) that persisted for 60 min, that is, until the disappearance of the headache. The case we describe appears to be original in that it represents one of the few EEG-documented ictal epileptic headaches in generalized idiopathic epilepsy. Wiley Periodicals, Inc. © 2012 International League Against Epilepsy.

  18. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

    DEFF Research Database (Denmark)

    de Kovel, Carolien G F; Trucks, Holger; Helbig, Ingo

    2010-01-01

    Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies remain elusive. Studies of structural genomic variations have revealed a significant excess of recurrent microdeletio...

  19. Retrospective clinical comparison of idiopathic versus symptomatic epilepsy in 240 dogs with seizures.

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    Pákozdy, Akos; Leschnik, Michael; Tichy, Alexander G; Thalhammer, Johann G

    2008-12-01

    In the present study, 240 cases of dogs with seizures were analysed retrospectively. The aim was to examine the underlying aetiology and to compare primary or idiopathic epilepsy (IE) with symptomatic epilepsy (SE) concerning signalment, history, ictal pattern, clinical and neurological findings. The diagnosis of symptomatic epilepsy was based on confirmed pathological changes in haematology, serum biochemistry, cerebrospinal fluid (CSF) analysis and morphological changes of the brain by CT/MRI or histopathological examination. Seizure aetiologies were classified as idiopathic epilepsy (IE, n = 115) and symptomatic epilepsy (SE, n = 125). Symptomatic epilepsy was mainly caused by intracranial neoplasia (39) and encephalitis (23). The following variables showed significant difference between the IE and SE group: age, body weight, presence of partial seizures, cluster seizures, status epilepticus, ictal vocalisation and neurological deficits. In 48% of the cases, seizures were found to be due to IE, while 16% were due to intracranial neoplasia and 10% to encephalitis. Status epilepticus, cluster seizures, partial seizures, vocalisation during seizure and impaired neurological status were more readily seen with symptomatic epilepsy. If the first seizure occurred between one and five years of age or the seizures occurred during resting condition, the diagnosis was more likely IE than SE.

  20. Behavior and social competency in idiopathic and cryptogenic childhood epilepsy.

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    Berg, Anne T; Vickrey, Barbara G; Testa, Francine M; Levy, Susan R; Shinnar, Shlomo; DiMario, Francis

    2007-07-01

    Behavioral and related disorders are frequently reported in association with childhood epilepsy but the reasons for this are unclear. In a long-term prospective, community-based study of newly-diagnosed childhood epilepsy, behavioral assessments (Child Behavior Checklist) were performed in children 8 to 9 years after the initial diagnosis of epilepsy to determine the impact of remission and medication status on behavioral problems. Children with epilepsy were also compared with sibling controls. A total of 226 children (108 females, 118 males; mean age 13y 1mo [SD 2y 8mo], range 8-17y) with idiopathic or cryptogenic epilepsy were included in the analyses. One hundred and twenty-eight matched pairs were included in analyses of case-sibling differences. Lack of remission and current medication use were associated with worse behavioral problem and competency scores. Lack of remission generally had a greater effect than medication use, except for attention problems; medication status had the more deleterious effect (pChildren with epilepsy had significantly worse behavioral problems and competency scores relative to sibling controls. Even in paris in which the patient was seizure-free and off medication, significant case-sibling differences persisted for most scales (p=0.05 to p=0.001). Lack of remission and continued use of antiepileptic drugs have a negative influence on behavioral problems in children with epilepsy but do not fully explain the worse scores relative to siblings. This suggests an independent effect associated with the epilepsy itself.

  1. Ictal Epileptic Headache with Idiopathic Epilepsy

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    J Gordon Millichap

    2012-01-01

    Neurologists at the University of Rome, Italy report a 37-year-old woman with drug-resistant generalized epilepsy and headache who had a sudden headache during a 24-h EEG that displayed epileptic activity.

  2. International Veterinary Epilepsy Task Force's current understanding of idiopathic epilepsy of genetic or suspected genetic origin in purebred dogs

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    Hülsmeyer, Velia-Isabel; Fischer, Andrea; Mandigers, Paul J. J.;

    2015-01-01

    Canine idiopathic epilepsy is a common neurological disease affecting both purebred and crossbred dogs. Various breed-specific cohort, epidemiological and genetic studies have been conducted to date, which all improved our knowledge and general understanding of canine idiopathic epilepsy, and in ...

  3. EEG features of absence seizures in idiopathic generalized epilepsy: Impact of syndrome, age, and state

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    Sadleir, L.G.; Scheffer, I.E.; Smith, S.

    2009-01-01

    Purpose: Factors influencing the electroencephalography (EEG) features of absence seizures in newly presenting children with idiopathic generalized epilepsy (IGE) have not been rigorously studied. We examined how specific factors such as state, provocation, age, and epilepsy syndrome affect the E...

  4. International Veterinary Epilepsy Task Force's current understanding of idiopathic epilepsy of genetic or suspected genetic origin in purebred dogs

    DEFF Research Database (Denmark)

    Hülsmeyer, Velia-Isabel; Fischer, Andrea; Mandigers, Paul J. J.

    2015-01-01

    of the dog with epilepsy in everyday clinical practice and furthermore may promote canine epilepsy research. The following manuscript reviews the evidence available for breeds which have been identified as being predisposed to idiopathic epilepsy with a proven or suspected genetic background, and highlights...

  5. Prevalence and characteristics of visual aura in idiopathic generalized epilepsy.

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    Gungor-Tuncer, Ozlem; Baykan, Betul; Altindag, Ebru; Bebek, Nerses; Gurses, Candan; Gokyigit, Aysen

    2012-12-01

    Some patients with idiopathic/genetic generalized epilepsy (IGE) experience visual aura, which can confuse the diagnosis. We sought to determine the frequency and characteristics of visual auras in IGE patients. Among the 176 IGE patients, 4 men and 7 women reported visual auras (mean age - 24 years). Syndromic diagnoses were juvenile myoclonic epilepsy in four, eyelid myoclonia with absences (EMA) in three, juvenile absence epilepsy in three, and other in one. Visual auras consisted of flashing lights, macropsia, illusional movements, and blindness. Eyelid myoclonia with absences was significantly more common in the group with visual aura (3 of 11 patients vs. 8 of 165 IGE patients; P=0.02). Furthermore, photosensitivity was found significantly more common in IGE patients with visual aura (90% vs 46% of the total IGE patients) (P=0.004). In conclusion, the visual auras do not exclude a diagnosis of IGE. The presence of visual aura in the EMA syndrome is also remarkable.

  6. Treatment with gabapentin of 11 dogs with refractory idiopathic epilepsy.

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    Platt, S R; Adams, V; Garosi, L S; Abramson, C J; Penderis, J; De Stefani, A; Matiasek, L

    Eleven dogs diagnosed with refractory idiopathic epilepsy were treated orally with gabapentin for a minimum of three months at an initial dose of 10 mg/kg every eight hours. They were all experiencing episodes of generalised tonic-clonic seizures and had been treated chronically with a combination of phenobarbital and potassium bromide at doses sufficient to reach acceptable therapeutic serum levels without causing significant side effects. In each dog, the number of seizures per week, the average duration of the seizures and the number of days on which seizures occurred were compared for the three months before and after they were treated with gabapentin. A minimum 50 per cent reduction in the number of seizures per week was interpreted as a positive response to gabapentin, and six of the dogs showed a positive response. After the addition of gabapentin, both the number of seizures per week (P= 0.005) and the number of days with any seizures in a one-week period (P=0.03) were significantly reduced. Mild side effects of ataxia and sedation were observed in five of the dogs, but they were not severe enough to warrant the treatment being discontinued during the trial.

  7. Idiopathic childhood occipital epilepsy of Gastaut: report of 12 patients.

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    Wakamoto, Hiroyuki; Nagao, Hideo; Fukuda, Mitsumasa; Watanabe, Shohei; Motoki, Takahiro; Ohmori, Hiromitsu; Ishii, Eiichi

    2011-03-01

    This study sought to present clinical and outcome data of patients with idiopathic childhood occipital epilepsy of Gastaut, to validate previously reported characteristics of this epilepsy. The study group was comprised of 12 affected children (three boys and nine girls), with a median age of onset at 10.3 years. Common ictal manifestations included elementary visual hallucinations (75.0%), blindness or blurring of vision (50.0%), headache (50.0%), and secondarily generalized tonic-clonic seizures (58.3%). Interictal electroencephalography revealed occipital spike-wave paroxysms reactive to eye closure and opening in all patients, accompanied by spike-wave activity in the extra-occipital areas in four (33.3%), and by generalized spike-wave discharges in two (16.7%). One patient exhibited the onset of occipital lobe seizures 1 year after manifesting absence epilepsy. Seizure remission occurred in 81.8% of cases, in half of which medication was discontinued by late adolescence. This study confirmed the previously delineated electroclinical features of epilepsy syndrome, with additional aspects including the frequent association of generalized tonic-clonic seizures and atypical evolution from childhood absence epilepsy.

  8. Quality-of-life aspects in idiopathic epilepsy in dogs

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    Wessmann, A; Volk, H A; Packer, R M A; Ortega, M.; Anderson, T.J.

    2016-01-01

    Quality of life (QoL) plays a significant role in the treatment of dogs with idiopathic epilepsy (IE), yet is so far understudied. This study describes the outcome evaluation of an online questionnaire based on the carer's perception focusing on 62 QoL questions in 159 dogs with IE. Results showed that seizure frequency, but not seizure severity or presence of cluster seizures, was significantly associated with carer-perceived dog's QoL. Dogs receiving third-line antiepileptic drugs had a sig...

  9. A study of idiopathic generalised epilepsy in an Irish population.

    LENUS (Irish Health Repository)

    Mullins, G M

    2012-02-03

    Idiopathic generalised epilepsy (IGE) is subdivided into syndromes based on clinical and EEG features. PURPOSE: The aim of this study was to characterise all cases of IGE with supportive EEG abnormalities in terms of gender differences, seizure types reported, IGE syndromes, family history of epilepsy and EEG findings. We also calculated the limited duration prevalence of IGE in our cohort. METHODS: Data on abnormal EEGs were collected retrospectively from two EEG databases at two tertiary referral centres for neurology. Clinical information was obtained from EEG request forms, standardised EEG questionnaires and medical notes of patients. RESULTS: two hundred twenty-three patients met our inclusion criteria, 89 (39.9%) male and 134 (60.1%) females. Tonic clonic seizures were the most common seizure type reported, 162 (72.65%) having a generalised tonic clonic seizure (GTCS) at some time. IGE with GTCS only (EGTCSA) was the most common syndrome in our cohort being present in 94 patients (34 male, 60 female), with 42 (15 male, 27 female) patients diagnosed with Juvenile myoclonic epilepsy (JME), 23 (9 male, 14 female) with Juvenile absence epilepsy (JAE) and 20 (9 male, 11 female) with childhood absence epilepsy (CAE). EEG studies in all patients showed generalised epileptiform activity. CONCLUSIONS: More women than men were diagnosed with generalised epilepsy. Tonic clonic seizures were the most common seizure type reported. EGTCSA was the most frequent syndrome seen. Gender differences were evident for JAE and JME as previously reported and for EGTCSA, which was not reported to date, and reached statistical significance for EGTCA and JME.

  10. [The use of depakene and depakene-chrono in idiopathic generalized epilepsy].

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    Perunova, N Iu

    2003-01-01

    During 5 years, 104 patients with different types of idiopathic generalized epilepsy were treated with depakine and depakine-chrono in monotherapy and polytherapy schedule. Thirty-three patients had childhood absence epilepsy, 34--juvenile absence epilepsy, 33--juvenile myoclonic epilepsy and 3--generalized convulsive seizures in wake up periods. Mean medication dose was 1200 mg daily. Significant improvement of the patient's state was revealed in 50% of the cases, being most efficient in patients with juvenile myoclonic epilepsy (60.6%) and in children absence epilepsy (57.5%). Indices of remission formation and quality changed in the same direction--complete remissions were more frequent in juvenile absence epilepsy. Depakine is concluded to be an effective medication for the treatment of idiopathic generalized epilepsy.

  11. Obesity and its association with generalised epilepsy, idiopathic syndrome, and family history of epilepsy.

    Science.gov (United States)

    Ladino, Lady D; Hernández-Ronquillo, Lizbeth; Téllez-Zenteno, José F

    2014-09-01

    Aim. Previous studies support the concept that obesity is a common comorbid condition in patients with epilepsy (PWE). In this study, we present the body mass index (BMI) and data from a survey to assess physical activity in a sample of PWE from an epilepsy clinic. Methods. Between June of 2011 and January of 2013, 100 PWE from an adult epilepsy clinic were included. We obtained BMI, waist circumference, and information regarding physical activity using a standardised questionnaire. Clinical, demographic, electrographic, and imaging parameters were collected from charts. Results. Mean age of patients was 40 ± 14 (18-77) years. The BMI distribution was as follows: 2 patients (2%) underweight, 26 (26%) normal weight, 34 (34%) overweight, 25 (25%) obese, and 13 (13%) with morbid obesity. In our study, obesity was defined as having a BMI ≥ 30. We found 38 (38%) patients in this range. There was no difference in the rate of drug-resistant epilepsy between obese and non-obese patients (55 vs. 55%; p=0.05). Leisure time habit was reported in 82% of obese patients and 79% of patients without obesity. Overall, the most frequent activity was walking (70%). Factors associated with obesity were generalised epilepsy (OR: 2.7, 1.1-6.6; p=0.012), idiopathic syndrome (OR: 2.7, 1.04-7; p=0.018), and family history of epilepsy (OR: 6.1, 1.5-24.2; p=0.002). Conclusion. Our study suggests an association between obesity, idiopathic generalised epilepsy, and family history of epilepsy. Our study shows that PWE are physically active and there is no clear relation between exercise and obesity. We could not identify any association between drug-resistant epilepsy and obesity. Absence of direct comparison with a control non-epileptic population; a cross-sectional design not allowing evaluation of a causal association among variables; and reliance on self-reported physical activity are to be considered as limitations of the present study.

  12. Repair of abnormal perfusion foci in idiopathic epilepsy patients under long-term antiepileptic treatment

    Institute of Scientific and Technical Information of China (English)

    Weimin Wang; Siyu Zhao; Yaqing Liu

    2011-01-01

    Epileptic seizure control and the disappearance of epileptiform discharge are not indicative of the absence of abnormal perfusion foci.Perfusion abnormalities are a major cause of epileptic discharge, and the existence of abnormal perfusion foci implies possible relapse.Very little is known about perfusion abnormality repair in epilepsy.The present study selected 43 cases of idiopathic epilepsy under antiepileptic drug control for an average of 24 months.Comparisons between interictal single-photon emission CT (SPECT)images and long-term electroencephalogram (EEG) pre- and post-treatment showed that cases of normal SPECT increased by 48% (12/25) following treatment, with a total number of 15 reduced foci (36%, 15/41).Perfusion foci, i.e., region of interest, were altered following treatment.These changes included:normal to abnormal in 3 cases (7%, 3/43; 2 hyperperfusion and 1 hypoperfusion); abnormal to normal in 14 cases (32%, 14/43; 10 pre-treatment hypoperfusion and 4 hyperperfusion); abnormal to abnormal in 7 cases (16%, 7/43; hyperperfusion to hypoperfusion in 5 cases, hypoperfusion to hyperperfusion in 2 cases).Long-term EEG revealed in an increase in the number of normal cases by 20 (40%, 20/39), and there were 25 fewer cases with epileptiform discharges (66%, 25/38).These findings demonstrate that long-term control of anti-epileptic drugs partially repaired cerebral perfusion abnormalities and reduced epileptiform discharges in idiopathic epilepsy.

  13. White matter microstructural changes of thalamocortical networks in photosensitivity and idiopathic generalized epilepsy

    DEFF Research Database (Denmark)

    Groppa, Sergiu; Moeller, Friederike; Siebner, Hartwig

    2012-01-01

    Photosensitivity or photoparoxysmal response (PPR) is an electroencephalography trait that is highly associated with idiopathic generalized epilepsies (IGEs) and characterized by changes in cortical excitability in response to photic stimulation. Studying functional and structural changes of PPR ...

  14. Abnormal Basal Ganglia Functional Connectivity in Idiopathic Generalized Epilepsy

    Institute of Scientific and Technical Information of China (English)

    Cheng Luo; Yang Xia; Zhi-Wei Guo; Dong Zhou

    2011-01-01

    The basal ganglia have been implicated in a modulation role in idiopathic generalized epilepsy (IGE) by an invasive electrophysioigic means.This paper investigates the basal ganglia functional connectivity by using the region-wise functional connection analysis in resting-state functional magnetic resonance imaging (fMRi) in IGE.The increased functional connectivity within basal ganglia,and between the basal ganglia and the thalamus,and decreased functional connectivity between basal ganglia and motor cortex are found in IGE compared with the controls. These findings not only implicate dysfunctional integration in the motor loop in IGE and the enhanced interaction in the modulated loop,but also suggest that the basal ganglia modulate the generalized epileptic discharges with the influence over thalamus in the corticothalamus network.

  15. Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs

    DEFF Research Database (Denmark)

    Seppälä, Eija H.; Koskinen, Lotta L.E.; Gulløv, Christina Hedal;

    2012-01-01

    collected 159 cases and 148 controls and confirmed the presence of epilepsy through epilepsy questionnaires and clinical examinations. The MRI was normal while interictal EEG revealed abnormalities and variable foci in the clinically examined affected dogs. A genome-wide association study using Affymetrix......, or as primary generalized. Nine genes have been identified for symptomatic (storage diseases) and one for idiopathic epilepsy in different breeds. However, the genetic background of common canine epilepsies remains unknown. We have studied the clinical and genetic background of epilepsy in Belgian Shepherds. We...

  16. Narcolepsy Type 1 and Idiopathic Generalized Epilepsy: Diagnostic and Therapeutic Challenges in Dual Cases.

    Science.gov (United States)

    Baiardi, Simone; Vandi, Stefano; Pizza, Fabio; Alvisi, Lara; Toscani, Lucia; Zambrelli, Elena; Tinuper, Paolo; Mayer, Geert; Plazzi, Giuseppe

    2015-11-15

    The aim of this study is to describe the possible co-occurrence of narcolepsy type 1 and generalized epilepsy, focusing on diagnostic challenge and safety of dual treatments. Four patients with comorbidity for narcolepsy type 1 and idiopathic generalized epilepsy are reported: in three cases the onset of epilepsy preceded narcolepsy type 1 appearance, whereas in one case epileptic spells onset was subsequent. Patients presented with absences, myoclonic and tonic-clonic seizure type: in the patient with tonic-clonic seizures the dual pathology was easily recognized, in the other cases the first diagnosis caused the comorbid disease to be overlooked, independent of the time-course sequence. All four patients underwent neurological examination, video-electroencephalogram during which ictal and interictal epileptic discharges were recorded, and sleep polysomnographic studies. Repeated sleep onset rapid eye movement periods (SOREMPs) were documented with the multiple sleep latency test (MLST) in all the four cases. All patients had unremarkable brain magnetic resonance imaging studies and cerebrospinal hypocretin-1 was assessed in two patients, revealing undetectable levels. The association of antiepileptic drugs and substances currently used to treat narcolepsy type 1, including sodium oxybate, was effective in improving seizures, sleep disturbance, and cataplexy. Narcolepsy type 1 may occur in association with idiopathic generalized epilepsy, leading to remarkable diagnostic and therapeutic challenges. Electrophysiological studies as well as a comprehensive somnologic interview can help confirm the diagnosis in patients with ambiguous neurological history. Sodium oxybate in combination with antiepileptic drugs is safe and effective in treating cataplexy and excessive daytime sleepiness. © 2015 American Academy of Sleep Medicine.

  17. Risk factors for cluster seizures in canine idiopathic epilepsy.

    Science.gov (United States)

    Packer, Rowena M A; Shihab, Nadia K; Torres, Bruno B J; Volk, Holger A

    2016-04-01

    Cluster seizures (CS), two or more seizures within a 24-hour period, are reported in 38-77% of dogs with idiopathic epilepsy (IE). Negative outcomes associated with CS include a reduced likelihood of achieving seizure freedom, decreased survival time and increased likelihood of euthanasia. Previous studies have found factors including breed, sex and neuter status are associated with CS in dogs with IE; however, only one UK study in a multi-breed study of CS in IE patients exists to the author's knowledge, and thus further data is required to confirm these results. Data from 384 dogs treated at a multi-breed canine specific epilepsy clinic were retrospectively collected from electronic patient records. 384 dogs were included in the study, of which nearly half had a history of CS (49.1%). Dogs with a history of CS had a younger age at onset than those without (p = 0.033). In a multivariate model, three variables predicted risk of CS: a history of status epilepticus (p = 0.047), age at seizure onset (p = 0.066) and breed (German Shepherd Dog) (p Dogs with a history of status epilepticus and dogs with an older age at seizure onset were less likely to be affected by cluster seizures. German Shepherd Dogs (71% experiencing CS) were significantly more likely to suffer from CS compared to Labrador Retrievers (25%) (p < 0.001). There was no association between sex, neuter status, body size and CS. Further studies into the pathophysiology and genetics of CS are required to further understand this phenomenon.

  18. Autobiographical memory in children with Idiopathic Generalised Epilepsy.

    Science.gov (United States)

    Gascoigne, Michael B; Barton, Belinda; Webster, Richard; Gill, Deepak; Lah, Suncica

    2015-01-01

    Autobiographical memory involves the recall of both personal facts (semantic memory) and the re-experiencing of past personal events (episodic memory). The recall of autobiographical episodic details has been associated with a specific network, which involves the prefrontal and medial temporal lobes, in addition to posterior regions of the brain. Seizure activity has been previously shown to disrupt the consolidation of newly-learned information into long-term memory, but it is not yet known whether primary generalised seizures alone are also associated with deficits in the recall of autobiographical memories. Here we examined this recall in children who experience generalised rather than localisation-related seizures: children with Idiopathic Generalised Epilepsy (IGE). In this study, 18 children with IGE and 42 healthy controls of comparable age (6-16 years), sex and socio-economic status were administered the Children's Autobiographical Interview (CAI). Compared with controls, children with IGE recalled significantly fewer episodic details, even when retrieval prompts were provided. In contrast, no group difference was found for the recall of semantic autobiographic details. Within the IGE group, hierarchical regression analyses showed that patient age and earlier age of diagnosis were significantly related to the recall of episodic autobiographical details over different conditions of the CAI, explaining up to 37% of variance. To our knowledge, this study provides the first evidence of autobiographical episodic memory deficits in patients with primary generalised seizures. As no evidence of localisation-related epilepsy is apparent in patients with IGE, our findings suggest that generalised seizures alone, especially when developed at an early age, could compromise memories for personally-experienced events.

  19. Perampanel for tonic-clonic seizures in idiopathic generalized epilepsy

    Science.gov (United States)

    Krauss, Gregory L.; Wechsler, Robert T.; Wang, Xue-Feng; DiVentura, Bree; Brandt, Christian; Trinka, Eugen; O'Brien, Terence J.; Laurenza, Antonio; Patten, Anna; Bibbiani, Francesco

    2015-01-01

    Objective: To assess efficacy and safety of adjunctive perampanel in patients with drug-resistant, primary generalized tonic-clonic (PGTC) seizures in idiopathic generalized epilepsy (IGE). Methods: In this multicenter, double-blind study (ClinicalTrials.gov identifier: NCT01393743; funded by Eisai Inc.), patients 12 years or older with PGTC seizures and IGE were randomized to placebo or perampanel during a 4-week titration period (perampanel uptitrated from 2 to 8 mg/d, or highest tolerated dose) and 13-week maintenance period. The primary endpoint was percent change in PGTC seizure frequency per 28 days (titration plus maintenance vs baseline). The key secondary endpoint (primary endpoint for European Union registration) was 50% PGTC seizure responder rate (patients achieving ≥50% reduction in PGTC seizure frequency; maintenance vs baseline). Treatment-emergent adverse events were monitored. Results: Of 164 randomized patients, 162 comprised the full analysis set (placebo, 81; perampanel, 81). Compared with placebo, perampanel conferred a greater median percent change in PGTC seizure frequency per 28 days (−38.4% vs −76.5%; p seizure responder rate (39.5% vs 64.2%; p = 0.0019). During maintenance, 12.3% of placebo-treated patients and 30.9% of perampanel-treated patients achieved PGTC seizure freedom. For the safety analysis (placebo, 82; perampanel, 81), the most frequent treatment-emergent adverse events with perampanel were dizziness (32.1%) and fatigue (14.8%). Conclusions: Adjunctive perampanel was well tolerated and improved control of drug-resistant PGTC seizures in patients with IGE. Classification of evidence: This study provides Class I evidence that adjunctive perampanel reduces PGTC seizure frequency, compared with placebo, in patients with drug-resistant PGTC seizures in IGE. PMID:26296511

  20. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

    DEFF Research Database (Denmark)

    Helbig, Ingo; Mefford, Heather C; Sharp, Andrew J

    2009-01-01

    We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syndromes without other features previously associ...

  1. A retrospective study of carbamazepine therapy in the treatment of idiopathic generalised epilepsy

    LENUS (Irish Health Repository)

    O'Connor, G

    2011-05-01

    Objective: The exacerbation of idiopathic generalised epilepsy (IGE) by some anti-epileptic drugs (AEDs) such as carbamazepine (CBZ) has been well documented. However, it is unclear whether IGE is always worsened by the use of CBZ, or whether some patients with IGE benefit from its use. \\r\

  2. Cognitive Dysfunction and Brain Volume Abnormalities in New-Onset Idiopathic Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-10-01

    Full Text Available Neuropsychological function and quantitataive volumetric measurement of grey and white matter of cerebrum were determined in 53 children (ages 8-18 years with recent-onset idiopathic epilepsy and compared to controls in a study at University of Wisconsin, Madison.

  3. Cognitive Dysfunction and Brain Volume Abnormalities in New-Onset Idiopathic Epilepsy

    OpenAIRE

    J Gordon Millichap

    2006-01-01

    Neuropsychological function and quantitataive volumetric measurement of grey and white matter of cerebrum were determined in 53 children (ages 8-18 years) with recent-onset idiopathic epilepsy and compared to controls in a study at University of Wisconsin, Madison.

  4. Myoclonus precipitated by oral suspension of oxcarbazepine in idiopathic generalized epilepsy.

    Science.gov (United States)

    Deng, Songqing; Luo, Rong; Mao, Meng; Huang, Liang

    2012-04-01

    Oxcarbazepine (OXC) is widely registered for the treatment of partial seizures and generalized tonic-clonic seizures (GTCS). Myoclonic seizures induced by OXC are uncommon. We report a child with idiopathic generalized epilepsy who developed myoclonic seizures and had an abnormal electroencephalogram (EEG) when oral suspension of OXC was introduced. This study suggests that oral suspension of OXC can precipitate myoclonus.

  5. Prevalence of Hypopigmented and Cafe-Au-Lait Spots in Idiopathic Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2002-03-01

    Full Text Available The prevalences of hypopigmented maculae and cafe-au-lait spots were investigated in 210 children with idiopathic epilepsy, between 2 and 17 years of age, and 2754 health controls children, at the Departments of Pediatrics and Dermatology, Hacettepe University and Inonu University Medical Schools, Turkey.

  6. Clinical and neuropsychological assessment of attention and ADHD comorbidity in a sample of children and adolescents with idiopathic epilepsy

    Directory of Open Access Journals (Sweden)

    Celia Regina Carvalho Machado da Costa

    2015-02-01

    Full Text Available Children with epilepsy present significant problems concerning attention and comorbidity with attention deficit hyperactivity disorder (ADHD. Objective To determine the prevalence of attention complaints, ADHD diagnosis and attention profile in a sample of children and adolescents with idiopathic epilepsy. Method 36 children and adolescents with idiopathic epilepsy and 37 genre and age matched healthy controls underwent several procedures to diagnose their neuropsychological profile and comorbidity with ADHD. Results The prevalence of ADHD was higher in patients with epilepsy [χ2= 4.1, p = 0.043, 6 (16.7% vs 1 (2.7%], with worse results in attention related WISC items and factors in patients with epilepsy comparing to the controls, but not between patients with and without ADHD. Clinical characteristics did not influence those results. Conclusion This study found a greater prevalence of problems wih attention in pediatric patients with idiopathic epilepsy, but not a distinct profile between those with or without ADHD.

  7. 特发性全面性癫痫的遗传学研究进展%Advance in genetic study for idiopathic generalized epilepsy

    Institute of Scientific and Technical Information of China (English)

    姜玉武; 谢涵

    2013-01-01

    Epilepsy is a kind of common neurological diseases in the world. Over 50% of epilepsies have genetic basis. We define "idiopathic epilepsy" as a kind of epilepsy or epilepsy syndrome only with genetic factors, and idiopathic generalized epilepsies (IGEs) is a major type of idiopathic epilepsies. Susceptibility genes of epilepsies are mainly ion channel genes. Both gene mutation and copy number variation lead to epilepsies. Childhood absence epilepsy (CAE) is a crucial part of IGEs. Due to the consistency of CAE' s phenotype and results of EEG, studies related to CAE susceptibility genes tend to be easier to conduct. Through these studies about IGEs /CAE susceptibility genes, we can determine pathogenic model of epilepsy genetics, and find the way to diagnose accurately in molecular genetics, to identify types of epilepsies, to detect targets of antiepileptic drugs, and provide a basis for gene therapy.

  8. 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, ...

  9. [Persistence of point-waves in the encephalogram (EEG) in idiopathic generalized epilepsy and therapeutic decisions].

    Science.gov (United States)

    Pedespan, J M; Brissaud, O; Loiseau, P

    1998-07-01

    We reviewed the literature on the following issues in idiopathic generalized epilepsy, is there a correlation between the persistence of seizures and electroencephalographic anomalies? Do point-waves observed in well-controlled patients constitute a factor predicting relapse? Do changes in paroxysmal anomalies during the disease course mean poor prognosis? Actually, there is very little literature on these issues and some disagreement in those data which have been published. Documented studies have been conducted in search of factors predicting relapse at treatment withdrawal, but little has been published concerning the role of the EEG. Few studies specifically mention idiopathic generalized epilepsy. In terms of the syndrome studied, they concern heterogeneous groups of patients. Generally, it is accepted that the EEG helps predict clinical course in idiopathic generalized epilepsy as it does in other epilepsies, given the characteristic EEG signs. This is true in patients under treatment and after treatment withdrawal. Risk errors were not however reported. II would appear reasonable to assume that no one EEG anomaly is determinant outside the clinical context.

  10. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

    OpenAIRE

    de Kovel, Carolien G.F.; Trucks, Holger; Helbig, Ingo; Mefford, Heather C.; Baker, Carl; Leu, Costin; Kluck, Christian; Muhle, Hiltrud; von Spiczak, Sarah; Ostertag, Philipp; Obermeier, Tanja; Kleefuß-Lie, Ailing A.; Hallmann, Kerstin; Steffens, Michael; Gaus, Verena

    2009-01-01

    Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies remain elusive. Studies of structural genomic variations have revealed a significant excess of recurrent microdeletions at 1q21.1, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 in various neuropsychiatric disorders including autism, intellectual disability and schizophrenia. Microdeletions at 15q13.3 have recently...

  11. Idiopathic generalized epilepsy and hypokalemic periodic paralysis in a family of South Indian descent.

    Science.gov (United States)

    Subramanian, Muthiah; Senthil, N; Sujatha, S

    2015-01-01

    Inherited channelopathies are a heterogeneous group of disorders resulting from dysfunction of ion channels in cellular membranes. They may manifest as diseases affecting skeletal muscle contraction, the conduction system of the heart, nervous system function, and vision syndromes. We describe a family of South Indian descent with hypokalemic periodic paralysis in which four members also have idiopathic generalized epilepsy. Hypokalemic periodic paralysis is a genetically heterogeneous channelopathy that has been linked to mutations in genes encoding three ion channels CACNIAS, SCN4A, and KCNJ2 predominantly. Although data on specific gene in idiopathic generalized epilepsy is relatively scarce, mutations of voltage gated sodium channel subunit genes (CACNB4) and nonsense mutations in voltage gated calcium channels (CACNA1A) have been linked to idiopathic generalized epilepsy in two families. We speculate that gene mutations altering the ability of the beta subunit to interact with the alpha subunit of the CaV1.1 channel and mutations in the pore-forming potassium channel subunit may be possible explanations for the combined manifestation of both diseases. Functional analysis of voltage gated calcium channel and other ion channels mutations may provide additional support and insight for the causal role of these mutations. The understanding of mutations in ion-channel genes will lead to improved diagnosis and treatment of such inherited channelopathies.

  12. Social cognition dysfunctions in patients with epilepsy: Evidence from patients with temporal lobe and idiopathic generalized epilepsies.

    Science.gov (United States)

    Realmuto, Sabrina; Zummo, Leila; Cerami, Chiara; Agrò, Luigi; Dodich, Alessandra; Canessa, Nicola; Zizzo, Andrea; Fierro, Brigida; Daniele, Ornella

    2015-06-01

    Despite an extensive literature on cognitive impairments in focal and generalized epilepsy, only a few number of studies specifically explored social cognition disorders in epilepsy syndromes. The aim of our study was to investigate social cognition abilities in patients with temporal lobe epilepsy (TLE) and in patients with idiopathic generalized epilepsy (IGE). Thirty-nine patients (21 patients with TLE and 18 patients with IGE) and 21 matched healthy controls (HCs) were recruited. All subjects underwent a basic neuropsychological battery plus two experimental tasks evaluating emotion recognition from facial expression (Ekman-60-Faces test, Ek-60F) and mental state attribution (Story-based Empathy Task, SET). In particular, the latter is a newly developed task that assesses the ability to infer others' intentions (i.e., intention attribution - IA) and emotions (i.e., emotion attribution - EA) compared with a control condition of physical causality (i.e., causal inferences - CI). Compared with HCs, patients with TLE showed significantly lower performances on both social cognition tasks. In particular, all SET subconditions as well as the recognition of negative emotions were significantly impaired in patients with TLE vs. HCs. On the contrary, patients with IGE showed impairments on anger recognition only without any deficit at the SET task. Emotion recognition deficits occur in patients with epilepsy, possibly because of a global disruption of a pathway involving frontal, temporal, and limbic regions. Impairments of mental state attribution specifically characterize the neuropsychological profile of patients with TLE in the context of the in-depth temporal dysfunction typical of such patients. Impairments of socioemotional processing have to be considered as part of the neuropsychological assessment in both TLE and IGE in view of a correct management and for future therapeutic interventions. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. Evaluation of creative thinking in children with idiopathic epilepsy (absence epilepsy).

    Science.gov (United States)

    Di Filippo, T; Parisi, L; Roccella, M

    2012-02-01

    Creativity represents the silent character of human behaviour. In children with epilepsy, cognitive performance of has mainly been investigated under the assumption that the disorder represents a risk factor for the development of intellectual function. In subjects with different forms of epilepsy, neuropsychologic disorders have been detected even when cognitive-global functioning is unimpaired. The cognitive functions of subjects with epilepsy have been widely studied, but their creativity has been never evaluated to date. The aim of this study was to describe the development of creative thinking in a group of children with absence epilepsy. The test battery included: the Torrance Test of Creative Thinking (TTCT), the Wechsler Intelligence Scale for Children-revised (WISC-R) and the Goodenough Human Figure Drawing Test. Statistical analysis (Mann-Whitney test) showed a statistically significant difference (P test scores between two groups of subjects (children with epilesy vs control group), with higher scores for figure originality, figure fluidity and figure elaboration in the control group. There was a significant correlation (Spearman's rho) between verbal IQ and verbal fluidity and verbal flexibility subscale scores and between performance IQ and figure elaboration, between total IQ and verbal fluidity and verbal flexibility subscales (P 0.30). Low scores on the figure originality subscales seem to confirm the hypothesis that adverse psychodynamic and relational factors impoverish autonomy, flexibility and manipulator interests. The communication channels between subjects with epilepsy and their family members were affected by the disorder, as were the type of emotional dynamics and affective flux.

  14. Developmental dyscalculia in children and adolescents with idiopathic epilepsies in a Brazilian sample.

    Science.gov (United States)

    Thomé, Ursula; Paixão Alves, Sandra Regina da; Guerreiro, Sabrina Mendonça; Machado da Costa, Célia Regina Carvalho; Souza Moreira, Fernanda de; Bandeira Lima, Andrea; Ferreira Tavares, Maria Rita; Souza Maia Filho, Heber

    2014-04-01

    Epilepsy is one of the most prevalent chronic disorders of childhood which can threaten child development and mental health. Among cognitive disorders, dyscalculia is one of the most important. In this study, 39 children and adolescents with idiopathic epilepsy underwent clinical and neuropsychological assessment to determine the intellectual level, math skills, reading and writing performance and neuropsychological profile. It was observed that the mathematical ability was below schooling expectations in a higher frequency than expected. There were no significant differences in mathematical performance among groups divided by number of antiepileptic drugs used, duration of disease and types and frequency of seizures. There was a positive correlation with intelligence quotient and attentional and reading level. These results suggest the existence not only of dyscalculia, but the concurrence of attentional and reading problems for the poor mathematical performance in this population.

  15. Developmental dyscalculia in children and adolescents with idiopathic epilepsies in a Brazilian sample

    Directory of Open Access Journals (Sweden)

    Ursula Thomé

    2014-04-01

    Full Text Available Epilepsy is one of the most prevalent chronic disorders of childhood which can threaten child development and mental health. Among cognitive disorders, dyscalculia is one of the most important. In this study, 39 children and adolescents with idiopathic epilepsy underwent clinical and neuropsychological assessment to determine the intellectual level, math skills, reading and writing performance and neuropsychological profile. It was observed that the mathematical ability was below schooling expectations in a higher frequency than expected. There were no significant differences in mathematical performance among groups divided by number of antiepileptic drugs used, duration of disease and types and frequency of seizures. There was a positive correlation with intelligence quotient and attentional and reading level. These results suggest the existence not only of dyscalculia, but the concurrence of attentional and reading problems for the poor mathematical performance in this population.

  16. Evaluation of quality of life of carers of Italian spinoni with idiopathic epilepsy

    OpenAIRE

    De Risio, Luisa; Freeman, Julia; Shea, Anita

    2016-01-01

    The carers of all UK Kennel Club registered Italian spinoni (IS) born between January 1, 2000 and December 31, 2011 were invited to participate in the study. The carers of 47 of 63 IS diagnosed with idiopathic epilepsy (IE) returned the questionnaire, which included numerous questions on various aspects of IE including the effect of IE on the dog's carer's quality of life. Median epileptic seizure number in the three months before study end or death was five epileptic seizures, 72 per cent of...

  17. Transient neuromyopathy after bromide intoxication in a dog with idiopathic epilepsy

    Directory of Open Access Journals (Sweden)

    Steinmetz Sonja

    2012-12-01

    Full Text Available Abstract A seven-year old Australian Shepherd, suffering from idiopathic epilepsy under treatment with phenobarbitone and potassium bromide, was presented with generalised lower motor neuron signs. Electrophysiology and muscle-nerve biopsies revealed a neuromyopathy. The serum bromide concentration was increased more than two-fold above the upper reference value. Clinical signs disappeared after applying diuretics and reducing the potassium bromide dose rate. This is the first case report describing electrophysiological and histopathological findings associated with bromide induced lower motor neuron dysfunction in a dog.

  18. Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs

    DEFF Research Database (Denmark)

    Seppälä, Eija H.; Koskinen, Lotta L.E.; Gulløv, Christina Hedal;

    2012-01-01

    Epilepsy is the most common neurological disorder in dogs, with an incidence ranging from 0.5% to up to 20% in particular breeds. Canine epilepsy can be etiologically defined as idiopathic or symptomatic. Epileptic seizures may be classified as focal with or without secondary generalization...... 50K SNP arrays in 40 cases and 44 controls mapped the epilepsy locus on CFA37, which was replicated in an independent cohort (81 cases and 88 controls; combined p¿=¿9.70×10¿¹°, OR¿=¿3.3). Fine mapping study defined a ~1 Mb region including 12 genes of which none are known epilepsy genes or encode ion...... channels. Exonic sequencing was performed for two candidate genes, KLF7 and ADAM23. No variation was found in KLF7 but a highly-associated non-synonymous variant, G1203A (R387H) was present in the ADAM23 gene (p¿=¿3.7×10¿8, OR¿=¿3.9 for homozygosity). Homozygosity for a two-SNP haplotype within the ADAM23...

  19. Idiopathic generalized epilepsy: Phenotypic and electroencephalographic observations in a large cohort from South India

    Directory of Open Access Journals (Sweden)

    Sanjib Sinha

    2013-01-01

    Full Text Available Purpose: We studied the phenotype and electroencephalographic (EEG features, and therapeutic aspects of idiopathic generalized epilepsies (IGEs in South Indian population. Patients and Methods: This prospective cross-sectional hospital-based study was carried out on non-consecutive 287 patients (age 22.2 ± 7.7 years; M:F = 139:148 with IGE syndrome. Their clinical and EEG observations were analyzed. Results: Majority of the patients had onset of seizures <20 years of age (n = 178; 62%. Thirty one patients (10.8% had family history of epilepsy. Nearly half of them (49.9% had <5 years of duration of seizures. The type of IGEs included Juvenile myoclonic epilepsy (JME: 115 (40.1%; IGE with generalized tonic-clonic seizures (GTCS only: 102 (39.02%; childhood absence epilepsy (CAE: 35 (12.2%; GTCS on awakening: 15 (5.2%; Juvenile absence epilepsy (JAE: 11 (3.8%; and unclassified seizures: 9 (3.1%. The triggering factors noted in 45% were sleep deprivation (20%, non-compliance and stress in 5% each. The EEG (n = 280 showed epileptiform discharges in about 50% of patients. Epileptiform discharges during activation was observed in 40/249 patients (16.1%: Hyperventilation in 32 (12.8% and photic stimulation in 19 (7.6%. The seizures were well controlled with anti-epileptic drugs (AEDs in 232 (80.8% patients and among them, 225 (78.4% patients were on monotherapy. Valproate (n = 131 was the most frequently prescribed as monotherapy. Conclusions: This is one of the largest cohort of patients with IGE. This study reiterates the importance of segregating IGE syndrome and such analysis will aid to the current understanding and management.

  20. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

    DEFF Research Database (Denmark)

    Dibbens, Leanne M; Mullen, Saul; Helbig, Ingo

    2009-01-01

    Microdeletion at chromosomal position 15q13.3 has been described in intellectual disability, autism spectrum disorders, schizophrenia and recently in idiopathic generalized epilepsy (IGE). Using independent IGE cohorts, we first aimed to confirm the association of 15q13.3 deletions and IGE. We th...

  1. INTERRELATION OF P300 COGNITIVE POTENTIALS AND NEURO-IMMUNOLOGIC VALUES OF PATIENTS WITH IDIOPATHIC AND SYMPTOMATIC EPILEPSY

    OpenAIRE

    Azizova, Rano

    2014-01-01

    The inverse relation of latent period prolongation degree and amplitude to the presence and expression of neuro-immunologic values was detected in the analysis of interrelation of the latest ones and cognitive initiated potentials in the patients with symptomatic and idiopathic epilepsy.

  2. Effects of a ketogenic diet on ADHD-like behavior in dogs with idiopathic epilepsy.

    Science.gov (United States)

    Packer, Rowena M A; Law, Tsz Hong; Davies, Emma; Zanghi, Brian; Pan, Yuanlong; Volk, Holger A

    2016-02-01

    Epilepsy in humans and rodent models of epilepsy can be associated with behavioral comorbidities including an increased prevalence of attention-deficit/hyperactivity disorder (ADHD). Attention-deficit/hyperactivity disorder symptoms and seizure frequency have been successfully reduced in humans and rodents using a ketogenic diet (KD). The aims of this study were (i) to describe the behavioral profile of dogs with idiopathic epilepsy (IE) while on a standardized nonketogenic placebo diet, to determine whether ADHD-like behaviors are present, and (ii) to examine the effect of a ketogenic medium chain triglyceride diet (MCTD) on the behavioral profile of dogs with idiopathic epilepsy (IE) compared with the standardized placebo control diet, including ADHD-like behaviors. A 6-month prospective, randomized, double-blinded, placebo-controlled, crossover dietary trial comparing the effects of the MCTD with a standardized placebo diet on canine behavior was carried out. Dogs diagnosed with IE, with a seizure frequency of at least 3 seizures in the past 3months (n=21), were fed the MCTD or placebo diet for 3months and were then switched to the alternative diet for 3months. Owners completed a validated behavioral questionnaire to measure 11 defined behavioral factors at the end of each diet period to report their dogs' behavior, with three specific behaviors hypothesized to be related to ADHD: excitability, chasing, and trainability. The highest scoring behavioral factors in the placebo and MCTD periods were excitability (mean±SE: 1.910±0.127) and chasing (mean±SE: 1.824±0.210). A markedly lower trainability score (mean±SE: 0.437±0.125) than that of previously studied canine populations was observed. The MCTD resulted in a significant improvement in the ADHD-related behavioral factor chasing and a reduction in stranger-directed fear (pdiet. The latter effect may be attributed to previously described anxiolytic effects of a KD. These data support the supposition that

  3. Clinical course and seizure outcome of idiopathic childhood epilepsy: determinants of early and long-term prognosis.

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    Dragoumi, Pinelopi; Tzetzi, Olga; Vargiami, Efthimia; Pavlou, Evangelos; Krikonis, Konstantinos; Kontopoulos, Eleftherios; Zafeiriou, Dimitrios I

    2013-12-18

    Idiopathic epilepsies and epileptic syndromes predominate childhood and adolescence epilepsy. The aim of the present study was to investigate the clinical course and outcome of idiopathic childhood epilepsy and identify variables determining both early and long-term prognosis. We followed 303 children with newly diagnosed idiopathic epilepsy aged 1-14 years old, both prospectively and retrospectively. Outcome was defined at one, 2 and 4 years of follow-up, as well as at the end of the study period for all patients. Based on the data collected, patients were classified in four patterns of clinical course: "excellent", "improving", "relapsing" and "poor". Variables defined at intake and after the initial year of treatment were analyzed for their prognostic relevance towards the clinical course and outcome of the patients. The mean age at seizure onset was 6.7 years and the mean duration of follow-up was 8.3 years (range 2,0-22,0,SD 4,24). During the initial year of treatment, 70,3% of patients were seizure-free. The course of epilepsy was "excellent" in 53,1% of the subjects, "improving" in 22,8%, "relapsing" in 22,1% whereas only 6 children with idiopathic epilepsy (2%) had a "poor" clinical course exhibiting drug-resistance. After multivariate analysis, variables predictive of a poor initial response to therapy were early seizure onset, multiple seizure types and history of status epilepticus. At the end of follow-up, early response to treatment was of significant positive predictive value, while the presence of multiple seizure types and the history of migraine had a negative impact on prognosis. In the vast majority of children, the long-term prognosis of idiopathic epilepsy is favorable. More than half of the patients attain seizure freedom immediately and their clinical course is considered "excellent". About one fifth exhibit either an improving or a fluctuating course. Early seizure onset, multiple seizure types and status epilepticus are predictive of an

  4. Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy.

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    Lachance-Touchette, Pamela; Martin, Caroline; Poulin, Chantal; Gravel, Micheline; Carmant, Lionel; Cossette, Patrick

    2010-09-01

    Mutations in the GABRB3 have been recently associated with childhood absence epilepsy (CAE) in families from Honduras and Mexico. In this study, we aimed to determine the frequency of mutation in this gene in our cohort of families with CAE and other related idiopathic generalized epilepsy (IGE) syndromes. We screened the open reading frame of GABRB3 in 183 French-Canadian individuals with IGE, including 88 with CAE. A total of nine single nucleotide polymorphisms (SNPs) have been identified,five of which are novel. The previously described P11S missense mutation was found in three affected and one unaffected individuals from a French-Canadian family. However, the P11S variant was also found in one of our 190 control individuals of French-Canadian origin, suggesting that this variant is rather a rare polymorphism in this population. Further screening of other IGE cohorts from various ethnic origins would help to confirm the association between this rare functional variant and epilepsy.

  5. Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes.

    Science.gov (United States)

    Chioza, B; Osei-Lah, A; Wilkie, H; Nashef, L; McCormick, D; Asherson, P; Makoff, A J

    2002-12-01

    Several potassium channel genes have been implicated in epilepsy. We have investigated three such genes, KCNJ3, KCNJ6 and KCNQ2, by association studies using a broad sample of idiopathic generalised epilepsy (IGE) unselected by syndrome. One of the two single nucleotide polymorphisms (SNPs) examined in one of the inward rectifying potassium channel genes, KCNJ3, was associated with IGE by genotype (P=0.0097), while its association by allele was of borderline significance (P=0.051). Analysis of the different clinical subgroups within the IGE sample showed more significant association with the presence of absence seizures (P=0.0041) and which is still significant after correction for multiple testing. Neither SNP in the other rectifying potassium channel gene, KCNJ6, was associated with IGE or any subgroup. None of the three SNPs in the voltage-gated potassium channel gene, KCNQ2, was associated with IGE. However, one SNP was associated with epilepsy with generalised tonic clonic seizures only (P=0.016), as was an SNP approximately 56 kb distant in the closely linked nicotinic acetylcholine gene CHRNA4 (P=0.014). These two SNPs were not in linkage disequilibrium with each other, suggesting that if they are not true associations they have independently occurred by chance. Neither association remains significant after correcting for multiple testing.

  6. 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.

  7. GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy.

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    Libor Velíšek

    Full Text Available Idiopathic generalized epilepsy (IGE syndromes represent about 30% of all epilepsies. They have strong, but elusive, genetic components and sex-specific seizure expression. Multiple linkage and population association studies have connected the bromodomain-containing gene BRD2 to forms of IGE. In mice, a null mutation at the homologous Brd2 locus results in embryonic lethality while heterozygous Brd2+/- mice are viable and overtly normal. However, using the flurothyl model, we now show, that compared to the Brd2+/+ littermates, Brd2+/- males have a decreased clonic, and females a decreased tonic-clonic, seizure threshold. Additionally, long-term EEG/video recordings captured spontaneous seizures in three out of five recorded Brd2+/- female mice. Anatomical analysis of specific regions of the brain further revealed significant differences in Brd2+/- vs +/+ mice. Specifically, there were decreases in the numbers of GABAergic (parvalbumin- or GAD67-immunopositive neurons along the basal ganglia pathway, i.e., in the neocortex and striatum of Brd2+/- mice, compared to Brd2+/+ mice. There were also fewer GABAergic neurons in the substantia nigra reticulata (SNR, yet there was a minor, possibly compensatory increase in the GABA producing enzyme GAD67 in these SNR cells. Further, GAD67 expression in the superior colliculus and ventral medial thalamic nucleus, the main SNR outputs, was significantly decreased in Brd2+/- mice, further supporting GABA downregulation. Our data show that the non-channel-encoding, developmentally critical Brd2 gene is associated with i sex-specific increases in seizure susceptibility, ii the development of spontaneous seizures, and iii seizure-related anatomical changes in the GABA system, supporting BRD2's involvement in human IGE.

  8. 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.

  9. Effects of Antiepileptic Drugs on Electroencephalographic Findings in Patients with Idiopathic Generalized Epilepsy

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    Ali Akbar ASADI-POOYA

    2011-09-01

    Full Text Available ObjectiveSeveral antiepileptic drugs (AEDs such as phenobarbital (Pb, carbamazepine (CBZ, and valproate (VPA may suppress interictal epileptiform activity. We investigated the effects of AEDs on electroencephalography (EEG data from patients with idiopathic generalized epilepsy (IGE.Materials & MethodsIn this cross-sectional study, all patients electroclinically diagnosed with IGE were recruited in the outpatient epilepsy clinic at Shiraz University of Medical Sciences from September 2008 through August 2010. A routine EEG was requested at the time of referral for all patients. Statistical analyses were performed using Chi square and Fisher’s exact test.ResultsThis study comprised of 336 patients. For about 20.8% (70 patients of them, the initial EEG appeared normal. The first EEG was normal in 14.2% of the patients who had newly diagnosed IGE (19 patients. Normal EEG was also detected for 27.6% of the patients who received VPA monotherapy (16 patients, 31% of the patients who received CBZ monotherapy (9 patients, 29.4% of the patients who received Pb monotherapy (5 patients, and 11.1% of the patients who received lamotrigine (LTG (1 patient.ConclusionThis study shows that compared to LTG, VPA suppresses generalized interictal epileptiform activity in patients with IGE more effectively. Theoretically, if a drug can frequently induce normalization of EEG, then it may be a better drug for treating IGEs.

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

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    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

  11. Clinical evaluation of a combination therapy of imepitoin with phenobarbital in dogs with refractory idiopathic epilepsy.

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    Neßler, Jasmin; Rundfeldt, Chris; Löscher, Wolfgang; Kostic, Draginja; Keefe, Thomas; Tipold, Andrea

    2017-01-25

    Imepitoin was tested as a combination treatment with phenobarbital in an open-label mono-centre cohort study in dogs with drug-resistant epilepsy. Diagnosis of idiopathic epilepsy was based on clinical findings, magnetic resonance imaging and cerebrospinal fluid analysis. Three cohorts were treated. In cohort A, dogs not responding to phenobarbital with or without established add-on treatment of potassium bromide or levetiracetam were treated add-on with imepitoin, starting at 10 mg/kg BID, with titration allowed to 30 mg/kg BID. In cohort B, the only difference to cohort A was that the starting dose of imepitoin was reduced to 5 mg/kg BID. In cohort C, animals not responding to imepitoin at >20 mg/kg BID were treated with phenobarbital add-on starting at 0.5 mg/kg BID. The add-on treatment resulted in a reduction in monthly seizure frequency (MSF) in all three cohorts. A reduction of ≥50% was obtained in 36-42% of all animals, without significant difference between cohorts. The lower starting dose of 5 mg/kg BID imepitoin was better tolerated, and an up-titration to on average of 15 mg/kg BID was sufficient in cohort A and B. In cohort C, a mean add-on dose of 1.5 mg/kg BID phenobarbital was sufficient to achieve a clinically meaningful effect. Six dogs developed a clinically meaningful increase in MSF of ≥ 50%, mostly in cohort A. Neither imepitoin nor phenobarbital add-on treatment was capable of suppressing cluster seizure activity, making cluster seizure activity an important predictor for drug-resistance. A combination treatment of imepitoin and phenobarbital is a useful treatment option for a subpopulation of dogs with drug-resistant epilepsy, a low starting dose with 5 mg/kg BID is recommended.

  12. Long-Term Clinical and Electroencephalography (EEG) Consequences of Idiopathic Partial Epilepsies.

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    Dörtcan, Nimet; Tekin Guveli, Betul; Dervent, Aysin

    2016-05-03

    BACKGROUND Idiopathic partial epilepsies of childhood (IPE) affect a considerable proportion of children. Three main electroclinical syndromes of IPE are the Benign Childhood Epilepsy with Centro-temporal Spikes (BECTS), Panayiotopoulos Syndrome (PS), and Childhood Epilepsy with Occipital Paroxysms (CEOP). In this study we investigated the long-term prognosis of patients with IPE and discussed the semiological and electroencephalography (EEG) data in terms of syndromic characteristics. MATERIAL AND METHODS This study included a group of consecutive patients with IPE who had been followed since 1990. Demographic and clinical variables were investigated. Patients were divided into 3 groups - A: Cases suitable for a single IPE (BECTS, PS and CEOP); B: cases with intermediate characteristics within IPEs; and C: cases with both IPE and IGE characteristics. Long-term data regarding the individual seizure types and EEG findings were re-evaluated. RESULTS A total of 61 patients were included in the study. Mean follow-up duration was 7.8 ± 4.50 years. The mean age at onset of seizures was 7.7 years. There were 40 patients in group A 40, 14 in group B, and 7 in group C. Seizure and EEG characteristics were also explored independently from the syndromic approach. Incidence of autonomic seizures is considerably high at 2-5 years and incidence of oromotor seizures is high at age 9-11 years. The EEG is most abnormal at 6-8 years. The vast majority (86%) of epileptic activity (EA) with parietooccipital is present at 2-5 years, whereas EA with fronto-temporal or multiple sites become more abundant between ages 6 and 11. CONCLUSIONS Results of the present study provide support for the age-related characteristics of the seizures and EEGs in IPE syndromes. Acknowledgement of those phenomena may improve the management of IPEs and give a better estimate of the future consequences.

  13. Hepatic artery pseudoaneurysm caused by acute idiopathic pancreatitis

    Institute of Scientific and Technical Information of China (English)

    Yeon Hwa Yu; Joo Hyun Sohn; Tae Yeob Kim; Jae Yoon Jeong; Dong Soo Han; Yong Cheol Jeon; Min Young Kim

    2012-01-01

    Hepatic artery pseudoaneurysm (HAP) is a very rare disease but in cases of complication,there is a very high mortality.The most common cause of HAP is iatrogenic trauma such as liver biopsy,transhepatic biliary drainage,cholecystectomy and hepatectomy.HAP may also occur with complications such as infections or inflammation associated with septic emboli.HAP has been reported rarely in patients with acute pancreatitis.As far as we are aware,there is no report of a case caused by acute idiopathic pancreatitis,particularly.We report a case of HAP caused by acute idiopathic pancreatitis which developed in a 61-year-old woman.The woman initially presented with acute pancreatitis due to unknown cause.After conservative management,her symptoms seemed to have improved.But eight days after admission,abdominal pain abruptly became worse again.Abdominal computed tomography (CT) was rechecked and it detected a new HAP that was not seen in a previous abdominal CT.Endoscopic retrograde cholangiopancreatography (ERCP) was performed because of a suspicion of hemobilia as a cause of aggravated abdominal pain.ERCP confirmed hemobilia by observing fresh blood clots at the opening of the ampulla and several filling defects in the distal common bile duct on cholangiogram.Without any particular treatment such as embolization or surgical ligation,HAP thrombosed spontaneously.Three months after discharge,abdominal CT demonstrated that HAP in the left lateral segment had disappeared.

  14. Effect of Vitamin E on Oxidative Stress Markers of Proteins and Lipids in Children with Idiopathic Epilepsy

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    S Rezaei Tireh Shabankareh

    2016-02-01

    Full Text Available Introduction: Epilepsy is regarded as one of the prevalent neurological disorders in children. The role of anti-oxidants in protection of epilepsy has been discussed in several studies. Vitamin E can be mentioned as a natural antioxidant to neutralize free radicals. Therefore, the present study aimed to evaluate the effects of vitamin E on oxidative stress markers such as malone dialdehyde(MDA and protein carbonyl(PC in children suffering from idiopathic epilepsy and vitamin D deficiency. Methods: In the current study, children suffering from idiopathic epilepsy and vitamin D deficiency were randomly divided into two groups. One group was treated with 50000 units of vitamin D oral capsules (per week for 8 weeks and the other  group was treated with 100 units of vitamin E (per day for one month as well as 50000 unit of vitamin D for 8 weeks. The amount of MDA and PC were measured by the spectrophotometer method. The obtained data were analyzed via the  SPSS software (ver, 19 using t-test. Results: The results indicated that the amount of  MAD and PC revealed a significant decrease after the treatment. In fact, in the group treated with vitamin E, the amount of PC decreased significantly compared with the other group, though MDA reduction was not proved to be significant. Discussion: The findings of the present study revealed that treatment with vitamin E could reduce the PC amount in regard with epileptic patients.

  15. Functional Network Connectivity Patterns between Idiopathic Generalized Epilepsy with Myoclonic and Absence Seizures

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    Qifu Li

    2017-05-01

    Full Text Available The extensive cerebral cortex and subcortical structures are considered as the major regions related to the generalized epileptiform discharges in idiopathic generalized epilepsy. However, various clinical syndromes and electroencephalogram (EEG signs exist across generalized seizures, such as the loss of consciousness during absence seizures (AS and the jerk of limbs during myoclonic seizures (MS. It is presumed that various functional systems affected by discharges lead to the difference in syndromes of these seizures. Twenty epileptic patients with MS, 21 patients with AS, and 21 healthy controls were recruited in this study. The functional network connectivity was analyzed based on the resting-state functional magnetic resonance imaging scans. The statistical analysis was performed in three groups to assess the difference in the functional brain networks in two types of generalized seizures. Twelve resting-state networks were identified in three groups. Both patient groups showed common abnormalities, including decreased functional connectivity in salience network (SN, cerebellum network, and primary perceptional networks and decreased connection between SN and visual network, compared with healthy controls. Interestingly, the frontal part of high-level cognitive resting-state networks showed increased functional connectivity (FC in patients with MS, but decreased FC in patients with AS. Moreover, patients with MS showed decreased negative connections between high-level cognitive networks and primary system. The common alteration in both patient groups, including SN, might reflect a similar mechanism associated with the loss of consciousness during generalized seizures. This study provided the evidence of brain network in generalized epilepsy to understand the difference between MS and AS.

  16. Resting motor threshold in idiopathic generalized epilepsies: a systematic review with meta-analysis.

    Science.gov (United States)

    Brigo, Francesco; Storti, Monica; Benedetti, Maria Donata; Rossini, Fabio; Nardone, Raffaele; Tezzon, Frediano; Fiaschi, Antonio; Bongiovanni, Luigi Giuseppe; Manganotti, Paolo

    2012-08-01

    Resting motor threshold (rMT) assessed by means of Transcranial Magnetic Stimulation (TMS) is thought to reflect trans-synaptic excitability of cortico-spinal neurons. TMS studies reporting rMT in idiopathic generalized epilepsies (IGEs) yielded discrepant results, so that it is difficult to draw a definitive conclusion on cortico-spinal excitability in IGEs by simple summation of previous results regarding this measure. Our purpose was to carry out a systematic review and a meta-analysis of studies evaluating rMT values obtained during single-pulse TMS in patients with IGEs. Controlled studies measuring rMT by single-pulse TMS in drug-naive patients older than 12 years affected by IGEs were systematically reviewed. rMT values were assessed calculating mean difference and odds ratio with 95% confidence intervals (CI). Fourteen trials (265 epileptic patients and 424 controls) were included. Patients with juvenile myoclonic epilepsy (JME) have a statistically significant lower rMT compared with controls (mean difference: -6.78; 95% CI -10.55 to -3.00); when considering all subtypes of IGEs and IGEs other than JME no statistically significant differences were found. Overall considered, the results are indicative of a cortico-spinal hyper-excitability in JME, providing not enough evidence for motor hyper-excitability in other subtypes of IGE. The considerable variability across studies probably reflects the presence of relevant clinical and methodological heterogeneity, and higher temporal variability among rMT measurements over time, related to unstable cortical excitability in these patients.

  17. Magnetoencephalography Reveals a Widespread Increase in Network Connectivity in Idiopathic/Genetic Generalized Epilepsy.

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    Adham Elshahabi

    Full Text Available Idiopathic/genetic generalized epilepsy (IGE/GGE is characterized by seizures, which start and rapidly engage widely distributed networks, and result in symptoms such as absences, generalized myoclonic and primary generalized tonic-clonic seizures. Although routine magnetic resonance imaging is apparently normal, many studies have reported structural alterations in IGE/GGE patients using diffusion tensor imaging and voxel-based morphometry. Changes have also been reported in functional networks during generalized spike wave discharges. However, network function in the resting-state without epileptiforme discharges has been less well studied. We hypothesize that resting-state networks are more representative of the underlying pathophysiology and abnormal network synchrony. We studied functional network connectivity derived from whole-brain magnetoencephalography recordings in thirteen IGE/GGE and nineteen healthy controls. Using graph theoretical network analysis, we found a widespread increase in connectivity in patients compared to controls. These changes were most pronounced in the motor network, the mesio-frontal and temporal cortex. We did not, however, find any significant difference between the normalized clustering coefficients, indicating preserved gross network architecture. Our findings suggest that increased resting state connectivity could be an important factor for seizure spread and/or generation in IGE/GGE, and could serve as a biomarker for the disease.

  18. Magnetoencephalography Reveals a Widespread Increase in Network Connectivity in Idiopathic/Genetic Generalized Epilepsy.

    Science.gov (United States)

    Elshahabi, Adham; Klamer, Silke; Sahib, Ashish Kaul; Lerche, Holger; Braun, Christoph; Focke, Niels K

    2015-01-01

    Idiopathic/genetic generalized epilepsy (IGE/GGE) is characterized by seizures, which start and rapidly engage widely distributed networks, and result in symptoms such as absences, generalized myoclonic and primary generalized tonic-clonic seizures. Although routine magnetic resonance imaging is apparently normal, many studies have reported structural alterations in IGE/GGE patients using diffusion tensor imaging and voxel-based morphometry. Changes have also been reported in functional networks during generalized spike wave discharges. However, network function in the resting-state without epileptiforme discharges has been less well studied. We hypothesize that resting-state networks are more representative of the underlying pathophysiology and abnormal network synchrony. We studied functional network connectivity derived from whole-brain magnetoencephalography recordings in thirteen IGE/GGE and nineteen healthy controls. Using graph theoretical network analysis, we found a widespread increase in connectivity in patients compared to controls. These changes were most pronounced in the motor network, the mesio-frontal and temporal cortex. We did not, however, find any significant difference between the normalized clustering coefficients, indicating preserved gross network architecture. Our findings suggest that increased resting state connectivity could be an important factor for seizure spread and/or generation in IGE/GGE, and could serve as a biomarker for the disease.

  19. A Rare Cause of Acute Abdomen: Idiopathic Isolated Cecal Necrosis

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    Ender Özer

    2015-03-01

    Full Text Available Idiopathic isolated cecal necrosis is a clinical problem characterized by right-sided inferior abdominal pain. It is rarely seen, develops due to decreased blood flow to the colon and, imitates acute appendicitis. Its clinical signs are similar to many illnesses causing sensitivity in the right inferior quadrant and, the diagnosis is generally determined during surgery. An 86-year-old male patient presented with the complaints of abdominal pain, trichiniasis, nausea and vomiting. Surgical intervention was decided when physical examination and laboratory results were taken into consideration. After diagnostic laparoscopy, right hemicolectomy was performed because of cecal necrosis. While the mortality and morbidity rates for ischemic bowel disease are high, prognosis for early diagnosed patients with isolated cecal necrosis is better, provided that timely surgical treatment is decided.

  20. Risk Factors for Survival in a University Hospital Population of Dogs with Epilepsy

    DEFF Research Database (Denmark)

    Fredso, N.; Koch, B. C.; Toft, Nils

    2014-01-01

    BackgroundAlthough a common neurological disorder in dogs, long-term outcome of epilepsy is sparsely documented. ObjectivesTo investigate risk factors for survival and duration of survival in a population of dogs with idiopathic epilepsy or epilepsy associated with a known intracranial cause....... AnimalsOne hundred and two client owned dogs; 78 dogs with idiopathic epilepsy and 24 dogs with epilepsy associated with a known intracranial cause. MethodsA retrospective hospital based study with follow-up. Dogs diagnosed with epilepsy between 2002 and 2008 were enrolled in the study. Owners were...

  1. Genetic causes of congenital brain malformations in epilepsy patients

    DEFF Research Database (Denmark)

    Møller, Rikke Steensbjerre

    2008-01-01

    The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological...... value for the family, and it is essential for proper genetic counselling. The human brain is one of the most complex structures known, and probably many of the 25.000- 30.000 genes that comprise the human genome are involved in its development, which means that thousands of genes could be candidate...... genes for developmental brain defects. The overall aim of the present study has been to identify new candidate genes or predisposing factors involved in congenital brain malformations in epilepsy patients....

  2. Cognitive impairment in childhood onset epilepsy: up-to-date information about its causes.

    Science.gov (United States)

    Kim, Eun-Hee; Ko, Tae-Sung

    2016-04-01

    Cognitive impairment associated with childhood-onset epilepsy is an important consequence in the developing brain owing to its negative effects on neurodevelopmental and social outcomes. While the cause of cognitive impairment in epilepsy appears to be multifactorial, epilepsy-related factors such as type of epilepsy and underlying etiology, age at onset, frequency of seizures, duration of epilepsy, and its treatment are considered important. In recent studies, antecedent cognitive impairment before the first recognized seizure and microstructural and functional alteration of the brain at onset of epilepsy suggest the presence of a common neurobiological mechanism between epilepsy and cognitive comorbidity. However, the overall impact of cognitive comorbidity in children with epilepsy and the independent contribution of each of these factors to cognitive impairment have not been clearly delineated. This review article focuses on the significant contributors to cognitive impairment in children with epilepsy.

  3. Perampanel for tonic-clonic seizures in idiopathic generalized epilepsy A randomized trial.

    Science.gov (United States)

    French, Jacqueline A; Krauss, Gregory L; Wechsler, Robert T; Wang, Xue-Feng; DiVentura, Bree; Brandt, Christian; Trinka, Eugen; O'Brien, Terence J; Laurenza, Antonio; Patten, Anna; Bibbiani, Francesco

    2015-09-15

    To assess efficacy and safety of adjunctive perampanel in patients with drug-resistant, primary generalized tonic-clonic (PGTC) seizures in idiopathic generalized epilepsy (IGE). In this multicenter, double-blind study (ClinicalTrials.gov identifier: NCT01393743; funded by Eisai Inc.), patients 12 years or older with PGTC seizures and IGE were randomized to placebo or perampanel during a 4-week titration period (perampanel up titrated from 2 to 8 mg/d, or highest tolerated dose) and 13-week maintenance period. The primary endpoint was percent change in PGTC seizure frequency per 28 days (titration plus maintenance vs baseline). The key secondary endpoint (primary endpoint for European Union registration) was 50% PGTC seizure responder rate (patients achieving $50% reduction in PGTC seizure frequency; maintenance vs baseline). Treatment-emergent adverse events were monitored. Of 164 randomized patients, 162 comprised the full analysis set (placebo, 81; perampanel, 81). Compared with placebo, perampanel conferred a greater median percent change in PGTC seizure frequency per 28 days (238.4%vs 276.5%; p , 0.0001) and greater 50%PGTC seizure responder rate (39.5% vs 64.2%; p 5 0.0019). During maintenance, 12.3% of placebo treated patients and 30.9%of perampanel-treated patients achieved PGTC seizure freedom. For the safety analysis (placebo, 82; perampanel, 81), the most frequent treatment-emergent adverse events with perampanel were dizziness (32.1%) and fatigue (14.8%). Adjunctive perampanel was well tolerated and improved control of drug-resistant PGTC seizures in patients with IGE. This study provides Class I evidence that adjunctive perampanel reduces PGTC seizure frequency, compared with placebo, in patients with drug-resistant PGTC seizures in IGE.

  4. Mortality and causes of death in children referred to a tertiary epilepsy center

    DEFF Research Database (Denmark)

    Grønborg, Sabine; Uldall, Peter

    2014-01-01

    BACKGROUND: Patients with epilepsy, including children, have an increased mortality rate when compared to the general population. Only few studies on causes of mortality in childhood epilepsy exist and pediatric SUDEP rate is under continuous discussion. AIM: To describe general mortality......, incidence of sudden unexpected death in epilepsy (SUDEP), causes of death and age distribution in a pediatric epilepsy patient population. METHODS: The study retrospectively examined the mortality and causes of death in 1974 patients with childhood-onset epilepsy at a tertiary epilepsy center in Denmark...... (8 SUDEP cases per 10,000 patient years). 9 patients died in the course of neurodegenerative disease and 28 children died of various causes. Epilepsy was considered drug resistant in more than 95% of the deceased patients, 90% were diagnosed with intellectual disability. Mortality of patients...

  5. Idiopathic generalised epilepsies with 3 Hz and faster spike wave discharges: a population-based study with evaluation and long-term follow-up in 71 patients.

    Science.gov (United States)

    Siren, Auli; Eriksson, Kai; Jalava, Heli; Kilpinen-Loisa, Päivi; Koivikko, Matti

    2002-09-01

    For several years we have been following patients with intractable, childhood-onset idiopathic generalised epilepsies with > or = 3 Hz spike-wave discharges. Our need to find explanations for their intractability was the starting point for this study. We were interested in identifying characteristics, which would predict intractability; evaluating how these patients were treated and whether polytherapy was useful. We identified patients with > or = 3 Hz spike-wave discharges by reviewing EEG reports recorded between 1983 and 1992. Data were collected from medical records and through personal interviews. We identified 82 patients with tentative idiopathic generalised epilepsy. Eleven were excluded. Thirty-eight patients had childhood absence epilepsy, 18 had juvenile absence epilepsy, 13 had juvenile myoclonic epilepsy and two had eyelid myoclonia with absences: 89.5, 78, 38 and 0% of the patients in each group, respectively, had been seizure free for more than 2 years. Twenty percent of the patients had intractable seizures. All intractable patients with juvenile absence epilepsy had rhythmic, random eyelid blinking and generalised tonic-clonic seizures. A history of more than ten generalised tonic-clonic seizures was associated with intractability in juvenile myoclonic patients. Monotherapy with ethosuximide or valproate resulted in seizure control in 65% of patients. Seventeen patients (24%) were treated with polytherapy, six achieved remission. These six patients had childhood absence epilepsy and juvenile absence epilepsy. Positive outcome was found in childhood absence epilepsy and juvenile absence epilepsy. Intractable seizures were more frequent among patients with juvenile myoclonic epilepsy. None of them benefited from polytherapy with conventional anti-epileptic drugs.

  6. Prevalence of lateral ventricle asymmetry in brain MRI studies of neurologically normal dogs and dogs with idiopathic epilepsy.

    Science.gov (United States)

    Pivetta, Mauro; De Risio, Luisa; Newton, Richard; Dennis, Ruth

    2013-01-01

    Asymmetry of the cerebral lateral ventricles is a common finding in cross-sectional imaging of otherwise normal canine brains and has been assumed to be incidental. The purpose of this retrospective study was to compare the prevalence of ventricular asymmetry in brain MRI studies of normal dogs and dogs with idiopathic epilepsy. Brain MRI archives were searched for 100 neurologically normal dogs (Group 1) and 100 dogs with idiopathic epilepsy (Group 2). For each dog, asymmetry of the lateral ventricles was subjectively classified as absent, mild, moderate, and severe based on a consensus of two observers who were unaware of group status. Ventricular areas were measured from transverse T1W images at the level of the interthalamic adhesion. An asymmetry ratio was calculated as the ratio of the larger to smaller ventricular transverse area. There was excellent agreement between subjective assessments of ventricular asymmetry and quantitative assessments using asymmetry ratios (k = 0.995). The prevalence of asymmetry was 38% in Group 1 dogs and 44% in Group 2 dogs. Assymmetry was scored as mild in the majority of Group 2 dogs. There was no significant association between presence/absence and degree of ventricular asymmetry vs. dog group, age, gender, or skull conformation. Findings from the current study supported previously published assumptions that asymmetry of the lateral cerebral ventricles is an incidental finding in MRI studies of the canine brain.

  7. Idiopathic sclerosing encapsulating peritonitis: an uncommon cause of intestinal obstruction

    Directory of Open Access Journals (Sweden)

    José de Arimatéia Batista Araújo Filho

    2012-12-01

    Full Text Available Sclerosing encapsulating peritonitis (SEP, also called encapsulating peritonitis, is a rare and benign cause of intestinal obstruction of unknown etiology. Its onset may be acute or subacute although there are some reports with a two-month history. More commonly, this entity is secondary to chronic peritoneal dialysis, ventriculoperitoneal and peritoneovenous shunting, the use of β-blockers and systemic lupus erythematous. Recurrent episodes of bacterial peritonitis, intestinal tuberculosis, sarcoidosis, familial Mediterranean fever, gastrointestinal cancer, liver transplantation, intra-abdominal fibrogenic foreign bodies, and luteinized ovarian thecomas are also related to SEP. The idiopathic presentation is more rare. Abdominal pain, nausea, vomiting, weight loss, malnutrition, and clinically palpable mass characterize the clinical features. Diagnosis is frequently made with gross findings during surgery, imaging workup and histopathology. The authors report the case of a 36-yearold male patient with a 10-day history of abdominal pain that was operated on because of intestinal obstruction. Diagnosis was made preoperatively and confirmed by the intraoperative findings and histopathology.

  8. Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

    Science.gov (United States)

    Corbett, Mark A; Bellows, Susannah T; Li, Melody; Carroll, Renée; Micallef, Silvana; Carvill, Gemma L; Myers, Candace T; Howell, Katherine B; Maljevic, Snezana; Lerche, Holger; Gazina, Elena V; Mefford, Heather C; Bahlo, Melanie; Berkovic, Samuel F; Petrou, Steven; Scheffer, Ingrid E; Gecz, Jozef

    2016-11-08

    To identify the genetic basis of a family segregating episodic ataxia, infantile seizures, and heterogeneous epilepsies and to study the phenotypic spectrum of KCNA2 mutations. A family with 7 affected individuals over 3 generations underwent detailed phenotyping. Whole genome sequencing was performed on a mildly affected grandmother and her grandson with epileptic encephalopathy (EE). Segregating variants were filtered and prioritized based on functional annotations. The effects of the mutation on channel function were analyzed in vitro by voltage clamp assay and in silico by molecular modeling. KCNA2 was sequenced in 35 probands with heterogeneous phenotypes. The 7 family members had episodic ataxia (5), self-limited infantile seizures (5), evolving to genetic generalized epilepsy (4), focal seizures (2), and EE (1). They had a segregating novel mutation in the shaker type voltage-gated potassium channel KCNA2 (CCDS_827.1: c.765_773del; p.255_257del). A rare missense SCN2A (rs200884216) variant was also found in 2 affected siblings and their unaffected mother. The p.255_257del mutation caused dominant negative loss of channel function. Molecular modeling predicted repositioning of critical arginine residues in the voltage-sensing domain. KCNA2 sequencing revealed 1 de novo mutation (CCDS_827.1: c.890G>A; p.Arg297Gln) in a girl with EE, ataxia, and tremor. A KCNA2 mutation caused dominantly inherited episodic ataxia, mild infantile-onset seizures, and later generalized and focal epilepsies in the setting of normal intellect. This observation expands the KCNA2 phenotypic spectrum from EE often associated with chronic ataxia, reflecting the marked variation in severity observed in many ion channel disorders. © 2016 American Academy of Neurology.

  9. Effectiveness of Rufinamide in the Treatment of Idiopathic Generalized Epilepsy With Atypical Evolution: Case Report and Review of the Literature.

    Science.gov (United States)

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

    2016-04-01

    Rufinamide (RFD) is a novel drug that was recently approved as an adjunctive treatment for Lennox-Gastaut syndrome. Despite its reported effectiveness in generalized seizures (tonic, atonic, or tonic-clonic) in this syndrome, few data on its use in idiopathic generalized epilepsy are available. Indeed, the scientific evidence to date is limited to anecdotal cases or isolated clinical experiences. We report an uncommon, though paradigmatic, case of a woman affected by juvenile absence epilepsy (JAE) who, following a prolonged seizure-freedom period and the consequent withdrawal of valproate, presented a seizure relapse accompanied by a worsening in her electroclinical pattern. In view of this atypical evolution of JAE, characterized by drug-resistant seizures (absence and generalized tonic-clonic) and the progressive increase in electroencephalographic (EEG) abnormalities, several antiepileptic drugs were used, though to no benefit. The use of RFD instead led to a gradual control of the seizures and normalization of the EEG findings. In addition to this clinical experience, we briefly review the literature on the use of RFD in refractory generalized epilepsy.

  10. Paraplegia Caused by Diffuse Idiopathic Skeletal Hyperostosis: A Case Report

    Directory of Open Access Journals (Sweden)

    Sevgi Ižkbali Afsar

    2014-02-01

    Full Text Available Diffuse idiopathic skeletal hyperosteosis (DISH, also known as Forestier disease, is an idiopathic chronic disorder characterized by the calcification of the anterior longitudinal ligament of the vertebral column and various extraspinal ligaments. It is usually asymptomatic but the most common symptoms are spinal pain, limited range of spinal motion and dysphagia. Spinal canal stenosis and myelopathia may rarely be seen. We present with the relevant literature a 64-year-old male who developed paraplegia due to thoracal spinal stenosis on a background of DISH.

  11. Multiple Pyogenic Liver Abscesses Caused by Microperforation of an Idiopathic Cecal Ulcer.

    Science.gov (United States)

    Yeom, Dong Han; Sohn, Ki Chang; Chu, Min Su; Jo, Dong Ho; Cho, Eun Young; Kim, Haak Cheoul

    2016-01-25

    Idiopathic cecal ulcer is a rare disease entity of unknown cause diagnosed by ruling out other known causes of cecal ulceration. The most common complication of an idiopathic cecal ulcer is bleeding; perforation, peritonitis, abscess, and stricture formation have been noted. The authors treated a 53-year-old woman who presented with fever and intermittent right upper quadrant abdominal pain. Multiple pyogenic liver abscess and a solitary cecal ulcer were diagnosed by radiologic, endoscopic, and pathologic examination, followed by laparoscopic cecectomy. After extensive study, we concluded that this patient's liver abscesses were a complication of the idiopathic cecal ulcer. Herein, we report a case of multiple pyogenic liver abscess caused by microperforation of idiopathic cecal ulcer.

  12. 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.

  13. 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 ...

  14. 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 ...

  15. Atypical Vitamin B-6 Deficiency A Rare Cause of Unexplained Neonatal and Infantile Epilepsies

    DEFF Research Database (Denmark)

    Baumgart, A.; von Spiczak, S.; Verhoeven-Duif, N. M.

    2014-01-01

    . We identified 1 patient with an epilepsy phenotype resembling Dravet syndrome and likely pathogenic mutations in ALDH7A1. Presenting features were highly atypical of pyridoxine-dependent epilepsy, including febrile seizures, response to anticonvulsive drugs, and periods of seizure freedom without......ALDH7A1 and PNPO deficiencies are rare inborn errors of vitamin B-6 metabolism causing perinatal seizure disorders. The phenotypic variability, however, is broad. To assess the frequency of these deficiencies in unexplained infantile epilepsy, we screened 113 patients for mutations in both genes...... pyridoxine treatment. "Hidden" vitamin B-6 deficiencies might be rare but treatable causes of unexplained epilepsy extending beyond the classical phenotypes....

  16. 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....

  17. Idiopathic retroperitoneal fibrosis causing unilateral ureteral and sigmoid colon obstruction

    Science.gov (United States)

    Yan, Ting; Wang, Yujuan; Liu, Zhijun; Zhang, Xiaolei; Wu, Qian; Xi, Mingrong

    2017-01-01

    Abstract Objective: The present report aimed to present a unique case of idiopathic retroperitoneal fibrosis (RPF) presenting features of unilateral ureteral and sigmoid colon obstruction. RPF is a rare disorder with unclear etiology. Case report: A 43-year-old female had a 10-day history of lower right abdominal and lumbar pain. Gynecological examination, ultrasound, and computed tomography (CT) were all suggestive of right ovarian tumor. An enhanced CT showed right-sided hydronephrosis. The patient was diagnosed as having ovarian cancer. Ten days after hospitalization, a right intraureteral stent with a double-J catheter was inserted. Upon exploring the abdomen, unyielding RPF was encountered. A partial sigmoidectomy and colostomy were performed. Postoperative pathological results suggested idiopathic RPF. She received steroid treatments. Conclusion: RPF is a rare disease that can be misdiagnosed. Our understanding about its presentation has to be improved and it should be considered as a differential diagnosis for patients presenting with abdominal diseases. PMID:28207528

  18. Seat belt-induced chylothorax: a cause of idiopathic chylothorax?

    Science.gov (United States)

    Agrawal, Vishal; Doelken, Peter; Sahn, Steven A

    2007-08-01

    Chylothoraces are associated with multiple etiologies including non-Hodgkin lymphoma and surgical trauma, representing 50% and 25% of all chylothoraces, respectively. Intrathoracic operations such as repair of coarctation of the aorta and esophagectomy are commonly associated with surgical trauma. Idiopathic chylothoraces may account for up to 15% of all chylothoraces. When a thorough evaluation finding is negative, further history to identify possible blunt, nonpenetrating trauma to the chest is warranted.

  19. Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy

    Science.gov (United States)

    Dazzo, Emanuela; Fanciulli, Manuela; Serioli, Elena; Minervini, Giovanni; Pulitano, Patrizia; Binelli, Simona; Di Bonaventura, Carlo; Luisi, Concetta; Pasini, Elena; Striano, Salvatore; Striano, Pasquale; Coppola, Giangennaro; Chiavegato, Angela; Radovic, Slobodanka; Spadotto, Alessandro; Uzzau, Sergio; La Neve, Angela; Giallonardo, Anna Teresa; Mecarelli, Oriano; Tosatto, Silvio C.E.; Ottman, Ruth; Michelucci, Roberto; Nobile, Carlo

    2015-01-01

    Autosomal-dominant lateral temporal epilepsy (ADLTE) is a genetic epilepsy syndrome clinically characterized by focal seizures with prominent auditory symptoms. ADLTE is genetically heterogeneous, and mutations in LGI1 account for fewer than 50% of affected families. Here, we report the identification of causal mutations in reelin (RELN) in seven ADLTE-affected families without LGI1 mutations. We initially investigated 13 ADLTE-affected families by performing SNP-array linkage analysis and whole-exome sequencing and identified three heterozygous missense mutations co-segregating with the syndrome. Subsequent analysis of 15 small ADLTE-affected families revealed four additional missense mutations. 3D modeling predicted that all mutations have structural effects on protein-domain folding. Overall, RELN mutations occurred in 7/40 (17.5%) ADLTE-affected families. RELN encodes a secreted protein, Reelin, which has important functions in both the developing and adult brain and is also found in the blood serum. We show that ADLTE-related mutations significantly decrease serum levels of Reelin, suggesting an inhibitory effect of mutations on protein secretion. We also show that Reelin and LGI1 co-localize in a subset of rat brain neurons, supporting an involvement of both proteins in a common molecular pathway underlying ADLTE. Homozygous RELN mutations are known to cause lissencephaly with cerebellar hypoplasia. Our findings extend the spectrum of neurological disorders associated with RELN mutations and establish a link between RELN and LGI1, which play key regulatory roles in both the developing and adult brain. PMID:26046367

  20. Patterns of Gray Matter Abnormalities in Idiopathic Generalized Epilepsy: A Meta-Analysis of Voxel-Based Morphology Studies

    Science.gov (United States)

    Zeng, Hongwu; He, Xiaoming; Li, Feng; Zhang, Jian; Huang, Bingsheng

    2017-01-01

    Objective We aimed to identify the consistent regions of gray matter volume (GMV) abnormalities in idiopathic generalized epilepsy (IGE), and to study the difference of GMV abnormalities among IGE subsyndromes by applying activation likelihood estimation (ALE) meta-analysis. Methods A systematic review of VBM studies on GMV of patients with absence epilepsy (AE), juvenile myoclonic epilepsy (JME), IGE and controls indexed in PubMed and ScienceDirect from January 1999 to June 2016 was conducted. A total of 12 IGE studies, including 7 JME and 3 AE studies, were selected. Meta-analysis was performed on these studies by using the pooled and within-subtypes analysis (www.brainmap.org). Based on the above results, between-subtypes contrast analysis was carried out to detect the abnormal GMV regions common in and unique to each subtype as well. Results IGE demonstrated significant GMV increase in right ventral lateral nucleus (VL) and right medial frontal gyrus, and significant GMV decrease in bilateral pulvinar. For JME, significant GMV increase was seen in right medial frontal gyrus, right anterior cingulate cortex (ACC), while significant GMV decrease was found in right pulvinar. In AE, the most significant GMV increase was found in right VL, and slight GMV reduction was seen in right medial dorsal nucleus, right subcallosal gyrus, left caudate and left precuneus. No overlapped and unique regions with significant GMV abnormalities were found between JME and AE. Significance This meta-analysis demonstrated that thalamo-frontal network was a structure with significant GMV abnormality in IGE, and the IGE subsyndromes showed different GMV abnormal regions. These observations may provide instructions on the clinical diagnosis of IGE. PMID:28060866

  1. Idiopathic ulcerative laryngitis causing midmembranous vocal fold granuloma.

    Science.gov (United States)

    Sinclair, Catherine F; Sulica, Lucian

    2013-02-01

    Idiopathic ulcerative laryngitis (IUL) is characterized by bilateral midmembranous vocal fold ulceration, which follows upper respiratory infection with cough. In contrast, granuloma of the membranous vocal fold can occur rarely following microlaryngoscopy, presumably secondary to surgical violation of deep tissue planes. We report a novel case of noniatrogenic membranous vocal fold granulation developing in a patient with IUL. Although the presence of granulation implied injury to the entire microstructure of the vibratory portion of the vocal fold, the lesion resolved with conservative management without adverse sequelae.

  2. A prospective study of the modified Atkins diet for adults with idiopathic generalized epilepsy.

    Science.gov (United States)

    Kverneland, Magnhild; Selmer, Kaja K; Nakken, Karl O; Iversen, Per O; Taubøll, Erik

    2015-12-01

    For children with pharmacoresistant epilepsy, the ketogenic diet is an established treatment option worldwide. However, for adults, this treatment is less frequently offered, and its efficacy less well-documented. The aim of this study was to examine efficacy and tolerability of such a diet as an adjuvant therapy to antiepileptic drugs for adult patients with pharmacoresistant generalized epilepsy. Thirteen patients (12 women) aged 16-57 years were included prospectively. They were treated with a modified Atkins diet for 12 weeks. Nine of the 13 participants had juvenile myoclonic epilepsy (JME), two had childhood absence epilepsy, one had Jeavons syndrome, and one had generalized epilepsy of unknown type. Six participants, all with JME, completed the 12-week study period. Among these six, four had >50% seizure reduction. Their seizure severity, using the revised Liverpool Seizure Severity Scale, was reduced by 1, 5, 57.5, and 70 points, respectively (scale: 1-100 points). In three of these four responders, quality of life, assessed by QOLIE-89, increased more than 20 points (scale: 0-100 points). Mean reduction of body weight after 12 weeks on diet was 6.5 (range: 4.3-8.1) kg. Lack of motivation, poor compliance, and seizure aggravation were the main reasons for premature termination of the diet. Apart from one patient who developed gallstones when ending the treatment after 10 months, no adverse effects were noted. In conclusion, using a modified Atkins diet for 12 weeks led to a clinically relevant reduction of seizure frequency in four of thirteen adult patients with pharmacoresistant generalized epilepsy. All responders were diagnosed with JME. In three of the four, the benefits of diet were so considerable that they chose to continue the treatment.

  3. A randomised trial of a medium-chain TAG diet as treatment for dogs with idiopathic epilepsy.

    Science.gov (United States)

    Law, Tsz Hong; Davies, Emma S S; Pan, Yuanlong; Zanghi, Brian; Want, Elizabeth; Volk, Holger A

    2015-11-14

    Despite appropriate antiepileptic drug treatment, approximately one-third of humans and dogs with epilepsy continue experiencing seizures, emphasising the importance for new treatment strategies to improve the quality of life of people or dogs with epilepsy. A 6-month prospective, randomised, double-blinded, placebo-controlled cross-over dietary trial was designed to compare a ketogenic medium-chain TAG diet (MCTD) with a standardised placebo diet in chronically antiepileptic drug-treated dogs with idiopathic epilepsy. Dogs were fed either MCTD or placebo diet for 3 months followed by a subsequent respective switch of diet for a further 3 months. Seizure frequency, clinical and laboratory data were collected and evaluated for twenty-one dogs completing the study. Seizure frequency was significantly lower when dogs were fed the MCTD (2·31/month, 0-9·89/month) in comparison with the placebo diet (2·67/month, 0·33-22·92/month, P=0·020); three dogs achieved seizure freedom, seven additional dogs had ≥50 % reduction in seizure frequency, five had an overall seizures (38·87 %, 35·68-43·27 %) and six showed no response. Seizure day frequency were also significantly lower when dogs were fed the MCTD (1·63/month, 0-7·58/month) in comparison with the placebo diet (1·69/month, 0·33-13·82/month, P=0·022). Consumption of the MCTD also resulted in significant elevation of blood β-hydroxybutyrate concentrations in comparison with placebo diet (0·041 (sd 0·004) v. 0·031 (sd 0·016) mmol/l, P=0·028). There were no significant changes in serum concentrations of glucose (P=0·903), phenobarbital (P=0·422), potassium bromide (P=0·404) and weight (P=0·300) between diet groups. In conclusion, the data show antiepileptic properties associated with ketogenic diets and provide evidence for the efficacy of the MCTD used in this study as a therapeutic option for epilepsy treatment.

  4. 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...

  5. Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.

    Science.gov (United States)

    Hochstenbach, R; Buizer-Voskamp, J E; Vorstman, J A S; Ophoff, R A

    2011-01-01

    We review the contributions and limitations of genome-wide array-based identification of copy number variants (CNVs) in the clinical diagnostic evaluation of patients with mental retardation (MR) and other brain-related disorders. In unselected MR referrals a causative genomic gain or loss is detected in 14-18% of cases. Usually, such CNVs arise de novo, are not found in healthy subjects, and have a major impact on the phenotype by altering the dosage of multiple genes. This high diagnostic yield justifies array-based segmental aneuploidy screening as the initial genetic test in these patients. This also pertains to patients with autism (expected yield about 5-10% in nonsyndromic and 10-20% in syndromic patients) and schizophrenia (at least 5% yield). CNV studies in idiopathic generalized epilepsy, attention-deficit hyperactivity disorder, major depressive disorder and Tourette syndrome indicate that patients have, on average, a larger CNV burden as compared to controls. Collectively, the CNV studies suggest that a wide spectrum of disease-susceptibility variants exists, most of which are rare (<0.1%) and of variable and usually small effect. Notwithstanding, a rare CNV can have a major impact on the phenotype. Exome sequencing in MR and autism patients revealed de novo mutations in protein coding genes in 60 and 20% of cases, respectively. Therefore, it is likely that arrays will be supplanted by next-generation sequencing methods as the initial and perhaps ultimate diagnostic tool in patients with brain-related disorders, revealing both CNVs and mutations in a single test. Copyright © 2011 S. Karger AG, Basel.

  6. Resting-state connectivity of the sustained attention network correlates with disease duration in idiopathic generalized epilepsy.

    Directory of Open Access Journals (Sweden)

    Mona Maneshi

    Full Text Available INTRODUCTION: In idiopathic generalized epilepsy (IGE, a normal electroencephalogram between generalized spike and wave (GSW discharges is believed to reflect normal brain function. However, some studies indicate that even excluding GSW-related errors, IGE patients perform poorly on sustained attention task, the deficit being worse as a function of disease duration. We hypothesized that at least in a subset of structures which are normally involved in sustained attention, resting-state functional connectivity (FC is different in IGE patients compared to controls and that some of the changes are related to disease duration. METHOD: Seeds were selected based on a sustained attention study in controls. Resting-state functional magnetic resonance imaging (fMRI data was obtained from 14 IGE patients and 14 matched controls. After physiological noise removal, the mean time-series of each seed was used as a regressor in a general linear model to detect regions that showed correlation with the seed. In patients, duration factor was defined based on epilepsy duration. Between-group differences weighted by the duration factor were evaluated with mixed-effects model. Correlation was then evaluated in IGE patients between the FC, averaged over each significant cluster, and the duration factor. RESULTS: Eight of 18 seeds showed significant difference in FC across groups. However, only for seeds in the medial superior frontal and precentral gyri and in the medial prefrontal area, average FC taken over significant clusters showed high correlation with the duration factor. These 3 seeds showed changes in FC respectively with the premotor and superior frontal gyrus, the dorsal premotor, and the supplementary motor area plus precentral gyrus. CONCLUSION: Alterations of FC in IGE patients are not limited to the frontal areas. However, as indicated by specificity analysis, patients with long history of disease show changes in FC mainly within the frontal areas.

  7. 癫痫患者5572例病因分析%Analysis of causes of epilepsy in 5572 cases

    Institute of Scientific and Technical Information of China (English)

    胡湘蜀; 陈俏; 伍新颜; 周锦华; 朱丹; 沈鼎烈; 李花; 刁芳明; 费凌霞; 张伟; 陈中婕; 张佩琪; 陈俊喜; 谈庆华

    2012-01-01

    感染、脑肿瘤及脑血管病是最主要的病因.%Objective To explore the common causes of epilepsy and the etiologic characteristics in different age groups of patients with epilepsy.Methods A retrospective survey was made in 5572 epilepsy patients in Epileptic Center of Guangdong 999 Brain Hospital from January 2003 to December 2009.According to the diagnostic criteria published in 2005 from ILAE,all the diagnoses of 5572 cases were made by epileptic specialists.Based on history,cranial MRI or CT and pathologic data,causes of epilepsy were classified into idiopathic,symptomatic and cryptogenic epilepsy.The cases of symptomatic epilepsy were further arranged into different categories in different age grades,such as head trauma,perinatal injuries,infection in central nervous system, cerebral vascular disease, brain tumor, disorders of cortical development,neurocutaneous syndrome and others.The cases with febrile seizures and family history were collected,and positive ratio of febrile seizures and family history were contrasted in different categories of cases by Kruskal-Wallis test ( nonparametric test ).Results In 5572 cases,66 were idiopathic,2834 symptomatic,2672 cryptogenic,and the ratio of these causes was 1%,51%,48% respectively.Among 2834 cases of symptomatic epilepsy,822 were head trauma,497 were perinatal injuries,360 were infection in central nervous system,249 were brain tumor,150 were cerebral vascular disease,135 were disorders of cortical development,62 were neurocutaneous syndrome and 559 were others. In brief,head trauma,perinatal injuries,infection in central nervous system,brain tumor and cerebral vascular disease were top 5 causes of symptomatic epilepsy. Hippocampal sclerosis was found in 744 cases in those of eryptogenic epilepsy.The importance of febrile seizures( idiopathic:15.2% ( 10/66 ),symptomatic:6.5% ( 185/2834 ),cryptogenic:9.4% ( 250/2672 ) ; x2 =181.393,P =0.000 ) and family history ( idiopathic:83.3% ( 55

  8. Causes of uveitis in children without juvenile idiopathic arthritis

    Directory of Open Access Journals (Sweden)

    Engelhard SB

    2015-06-01

    Full Text Available Stephanie B Engelhard, Asima Bajwa, Ashvini K ReddyDepartment of Ophthalmology, University of Virginia, Charlottesville, VA, USABackground: The purpose of this study was to report the demographics, disease characteristics, treatments, and visual outcomes of pediatric uveitis patients without juvenile idiopathic arthritis managed in a tertiary medical center.Methods: A retrospective, observational study was performed in pediatric uveitis patients without juvenile idiopathic arthritis and aged 0–18 years, who were seen at the University of Virginia from 1984 to 2014.Results: Thirty-nine pediatric uveitis patients (57 eyes were identified. The patient population was 51.28% female, 51.28% Caucasian, and 33.33% African American. The mean age at diagnosis was 11.9 years. The mean duration of follow-up was 3.11 years. The mean number of visits to the clinic was 10.41. Of 57 eyes, 31 (54.39% had anterior uveitis, 12 (21.05% had intermediate uveitis, nine (15.79% had posterior uveitis, and five (8.77% had panuveitis. The leading diagnoses were traumatic uveitis (25.64%, undifferentiated anterior uveitis (17.95%, undifferentiated intermediate uveitis (15.38%, HLA-B27-associated anterior uveitis (7.69%, and herpetic anterior uveitis (7.69%. Systemic associations included sarcoidosis, ulcerative colitis, and psoriatic arthritis (n=3. The most common treatment modalities included local steroids (66.67%, systemic steroids (23.08%, and antimetabolites (20.51%. Ocular hypertension was found in five (12.82% patients. Ocular surgery was performed in six (15.38% patients. Mean best-corrected visual acuity (BCVA at baseline across all anatomical locations was 0.458 logMAR, and was 0.411 logMAR at final follow-up. Mean BCVA improved during follow-up in all but the anterior uveitis group. The mean baseline intraocular pressure was 14.27 mmHg, and was 14.22 mmHg at final follow-up.Conclusion: Uveitis in childhood is a vision-threatening group of inflammatory

  9. Voltage-Gated Channels as Causative Agents for Epilepsies

    OpenAIRE

    2008-01-01

    Problem statement: Epilepsy is a common neurological disorder that afflicts 1-2% of the general population worldwide. It encompasses a variety of disorders with seizures. Approach: Idiopathic epilepsies were defined as a heterogeneous group of seizure disorders that show no underlying cause .Voltage-gated ion channels defect were recognized etiology of epilepsy in the central nervous system. The aim of this article was to provide an update on voltage-gated ...

  10. 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

  11. 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)

  12. 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

  13. 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,

  14. Cerebellum abnormalities in idiopathic generalized epilepsy with generalized tonic-clonic seizures revealed by diffusion tensor imaging.

    Directory of Open Access Journals (Sweden)

    Yonghui Li

    Full Text Available Although there is increasing evidence suggesting that there may be subtle abnormalities in idiopathic generalized epilepsy (IGE patients using modern neuroimaging techniques, most of these previous studies focused on the brain grey matter, leaving the underlying white matter abnormalities in IGE largely unknown, which baffles the treatment as well as the understanding of IGE. In this work, we adopted multiple methods from different levels based on diffusion tensor imaging (DTI to analyze the white matter abnormalities in 14 young male IGE patients with generalized tonic-clonic seizures (GTCS only, comparing with 29 age-matched male healthy controls. First, we performed a voxel-based analysis (VBA of the fractional anisotropy (FA images derived from DTI. Second, we used a tract-based spatial statistics (TBSS method to explore the alterations within the white matter skeleton of the patients. Third, we adopted region-of-interest (ROI analyses based on the findings of VBA and TBSS to further confirm abnormal brain regions in the patients. At last, considering the convergent evidences we found by VBA, TBSS and ROI analyses, a subsequent probabilistic fiber tractography study was performed to investigate the abnormal white matter connectivity in the patients. Significantly decreased FA values were consistently observed in the cerebellum of patients, providing fresh evidence and new clues for the important role of cerebellum in IGE with GTCS.

  15. Mutations in KCNT1 cause a spectrum of focal epilepsies

    DEFF Research Database (Denmark)

    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...

  16. 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

  17. First-drug treatment failures in 42 Turkish children with idiopathic childhood occipital epilepsies

    Directory of Open Access Journals (Sweden)

    Faruk Incecik

    2015-01-01

    Full Text Available Background: The early and late benign occipital epilepsies of childhood (BOEC are described as two discrete electro-clinical syndromes, eponymously known as Panayiotopoulos and Gastaut syndromes. The purpose of this study was to identify predictors of failure to respond to the initial antiepileptic drug (AED. Materials and Methods: A total of 42 children with BOEC were enrolled. Predictive factors were analyzed by survival methods. Results: Among the 42, 25 patients (59.5% were boys and 17 (40.5% were girls and the mean age at the seizure onset was 7.46 ± 2.65 years (4-14 years. Of the 42 patients, 34 (81.0% were treated relatively successfully with the first AED treatment, and 8 (19.0% were not responded initial AED treatment. There was no correlation between response to initial AED treatment and sex, consanguinity, epilepsy history of family, age of seizure onset, frequency of seizures, history of status epilepticus, duration of starting first treatment, findings on electroencephalogram. However, history of febrile seizure and type of BOEC were significantly associated with failure risk. Conclusions: Factors predicting failure to respond to the AED were history of febrile seizure and type of BOEC in children with BOEC.

  18. 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

  19. IDIOPATHIC OMENTAL INFARCTION : A RARE CAUSE OF ACUTE PAIN ABDOMEN

    Directory of Open Access Journals (Sweden)

    Narendra Nath

    2015-02-01

    Full Text Available Omental torsion leading on to omental infarction is an unusual cause of acute abdominal pain in adults. Often the condition mimics common causes of acute abdomen like acute cholecystitis, acute appendicitis or acute pancreatitis. A review of literature reveals that this enigmatic condition has been managed both non - operatively and by surgery in the past. We report the case of a 46 - year - old man who presented with a 4 - day history of severe right - sided abdominal pain mimicking acute cholecystitis. Abdominal CT scan revealed a right upper quadrant mass with a whirl - like appearance, suspicious for omental infarction. He was started on conservative management with analgesics and antibiotics. He improved symptomatically and was discharged

  20. Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

    DEFF Research Database (Denmark)

    Mosbech, Mai-Britt; Olsen, Anne S B; Neess, Ditte;

    2014-01-01

    with progressive myoclonic epilepsy (PME). Mass spectrometry and fluorescence microscopy were used to examine the effects of reduced CERS2 activity on cellular lipid composition and plasma membrane functions. RESULTS: We identify a novel 27 kb heterozygous deletion including the CERS2 gene in a proband diagnosed...... with PME. Compared to parental controls, levels of CERS2 mRNA, protein, and activity were reduced by ˜50% in fibroblasts isolated from this proband, resulting in significantly reduced levels of ceramides and sphingomyelins containing the very long-chain fatty acids C24:0 and C26:0. The change in SL...... to development of PME....

  1. Weakness of the neck extensors, possible causes and relation to adolescent idiopathic cervical kyphosis.

    Science.gov (United States)

    Xiaolong, Shen; Xuhui, Zhou; Jian, Chen; Ye, Tian; Wen, Yuan

    2011-09-01

    Cervical kyphosis may be congenital, or occur as a result of laminectomy, post-traumatic deformity, infection, neuromuscular disorders such as muscular dystrophies, motor neuron disorders such as amyotrophic lateral sclerosis, tumor, and inflammation such as ankylosing spondylitis. Furthermore, adolescent idiopathic cervical kyphosis was defined as cervical kyphotic deformity of adolescent patient without any cause such as those previously described. As no standard values for "cervical kyphosis" could be found in the literature, many reported studies only report a subjective classification, "kyphotic, straight or lordotic". But this method had proven to be unreliable. Grob et al. defined "straight" for the global curvature as +4° to -4°, and lordotic and kyphotic as +4°, respectively. The etiology and pathogenesis of adolescent idiopathic cervical kyphosis remain little understood. Weakness of the neck extensors can result in "dropped head syndrome", a rare disorder characterized by weakness of neck extensor muscles causing an inability to extend the neck and resulting in a chin-on-chest deformity. The purpose of this paper is to propose a possible mechanical cause leading to the kyphotic deformity. We hypothesize that weakness of the neck extensors could be the initiating factor for adolescent idiopathic cervical kyphosis.

  2. Post-prandial reactive hypoglycaemia and diarrhea caused by idiopathic accelerated gastric emptying: a case report

    Directory of Open Access Journals (Sweden)

    Balan Kottekkattu

    2011-05-01

    Full Text Available Abstract Introduction The majority of cases of post-prandial reactive hypoglycemia are considered idiopathic. Abnormalities of B-cell function and glucose regulation by insulin and glucagon have been postulated as causes but associated gastrointestinal dysfunction has not been reported. We report the first case of accelerated gastric emptying associated with post-prandial reactive hypoglycemia, abdominal bloating and diarrhea. We consider that gastric dysmotility is an important cause of this condition as treatment of the underlying abnormal gastric emptying allows effective control of symptoms. Case presentation A 20-year-old Caucasian woman presented with post-prandial fatigue, sweating, nausea, faintness and intermittent confusion, which had led to pre-syncope and syncope on occasions. She also experienced marked abdominal bloating and diarrhea over the same period. These episodes responded to oral administration of sweet drinks. Her symptoms were ameliorated by modification of her diet. Conclusion This is an original case report of the association of idiopathic accelerated gastric emptying with post-prandial reactive hypoglycemia and diarrhea. Family physicians, endocrinologists and gastroenterologists often consult patients with a constellation of post-prandial symptoms, which are considered to be idiopathic in most cases. This case indicates that gastric dysmotility might be the primary cause of these symptoms in some patients and, if found, offers a therapeutic target which in our case was successful.

  3. 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.

  4. Evaluation of Homocysteine, Folic Acid and Vitamin B12 Levels among Egyptian Children with Idiopathic Epilepsy

    Directory of Open Access Journals (Sweden)

    Soha M. Abd El Dayem

    2014-03-01

    Conclusion: antiepileptic drugs might upset the homeostatic balance of Hcy and its cofactors and cause abnormalities of their serum levels. The duration of anti-epileptic drug treatment was related to decrease of folic acid and increase in homocysteine levels.

  5. The risk and causes of death in childhoodonset epilepsy: A 4-study collaboration

    NARCIS (Netherlands)

    Berg, Anne T.; Nickels, K.; Wirrell, E.C.; Rios, C.; Geerts, A.T.; Callenbach, P.M.; Arts, W.F.; Camfield, P.R.; Camfield, C.S.

    2013-01-01

    Rationale: Young people with epilepsy experience high death rates compared to the general population. Understanding the magnitude of risk and the causes of death (CoD) is essential for counseling and for potential prevention. Methods: We combined the mortality experiences of four cohort studies of

  6. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

    DEFF Research Database (Denmark)

    Schubert, J.; Siekierska, A.; Langlois, M.

    2014-01-01

    Febrile seizures affect 2-4% of all children(1) and have a strong genetic component(2). Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2)(3-5) have been identified that cause febrile seizures with or without epilepsy. Here we report the identification of mutations in STX1B, encodi...

  7. The risk and causes of death in childhoodonset epilepsy: A 4-study collaboration

    NARCIS (Netherlands)

    Berg, Anne T.; Nickels, K.; Wirrell, E.C.; Rios, C.; Geerts, A.T.; Callenbach, P.M.; Arts, W.F.; Camfield, P.R.; Camfield, C.S.

    2013-01-01

    Rationale: Young people with epilepsy experience high death rates compared to the general population. Understanding the magnitude of risk and the causes of death (CoD) is essential for counseling and for potential prevention. Methods: We combined the mortality experiences of four cohort studies of n

  8. 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...

  9. Are adverse effects of antiepileptic drugs different in symptomatic partial and idiopathic generalized epilepsies? The Portuguese-Brazilian validation of the Liverpool Adverse Events Profile.

    Science.gov (United States)

    Martins, H H; Alonso, N B; Vidal-Dourado, M; Carbonel, T D; de Araújo Filho, G M; Caboclo, L O; Yacubian, E M; Guilhoto, L M

    2011-11-01

    We report the results of administration of the Portuguese-Brazilian translation of the Liverpool Adverse Events Profile (LAEP) to 100 patients (mean age=34.5, SD=12.12; 56 females), 61 with symptomatic partial epilepsy (SPE) and 39 with idiopathic generalized epilepsy (IGE) (ILAE, 1989) who were on a stable antiepileptic drug (AED) regimen and being treated in a Brazilian tertiary epilepsy center. Carbamazepine was the most commonly used AED (43.0%), followed by valproic acid (32.0%). Two or more AEDs were used by 69.0% of patients. The mean LAEP score (19 questions) was 37.6 (SD=13.35). The most common adverse effects were sleepiness (35.0%), memory problems (35.0%), and difficulty in concentrating (25.0%). Higher LAEP scores were associated with polytherapy with three or more AEDs (P=0.005), female gender (P0.001) and Hospital Anxiety and Depression Scale (Depression: r=0.637, P<0.001; Anxiety: r=0.621, P<0.001) dimensions. LAEP overall scores were similar in people with SPE and IGE and were not helpful in differentiating adverse effects in these two groups. Clinical variables that influenced global LAEP were seizure frequency (P=0.050) and generalized tonic-clonic seizures in the last month (P=0.031) in the IGE group, and polytherapy with three or more AEDs (P=0.003 and P=0.003) in both IGE and SPE groups.

  10. Clinical features, proximate causes, and consequences of active convulsive epilepsy in Africa

    Science.gov (United States)

    Kariuki, Symon M; Matuja, William; Akpalu, Albert; Kakooza-Mwesige, Angelina; Chabi, Martin; Wagner, Ryan G; Connor, Myles; Chengo, Eddie; Ngugi, Anthony K; Odhiambo, Rachael; Bottomley, Christian; White, Steven; Sander, Josemir W; Neville, Brian G R; Newton, Charles R J C

    2014-01-01

    Purpose Epilepsy is common in sub-Saharan Africa (SSA), but the clinical features and consequences are poorly characterized. Most studies are hospital-based, and few studies have compared different ecological sites in SSA. We described active convulsive epilepsy (ACE) identified in cross-sectional community-based surveys in SSA, to understand the proximate causes, features, and consequences. Methods We performed a detailed clinical and neurophysiologic description of ACE cases identified from a community survey of 584,586 people using medical history, neurologic examination, and electroencephalography (EEG) data from five sites in Africa: South Africa; Tanzania; Uganda; Kenya; and Ghana. The cases were examined by clinicians to discover risk factors, clinical features, and consequences of epilepsy. We used logistic regression to determine the epilepsy factors associated with medical comorbidities. Key Findings Half (51%) of the 2,170 people with ACE were children and 69% of seizures began in childhood. Focal features (EEG, seizure types, and neurologic deficits) were present in 58% of ACE cases, and these varied significantly with site. Status epilepticus occurred in 25% of people with ACE. Only 36% received antiepileptic drugs (phenobarbital was the most common drug [95%]), and the proportion varied significantly with the site. Proximate causes of ACE were adverse perinatal events (11%) for onset of seizures before 18 years; and acute encephalopathy (10%) and head injury prior to seizure onset (3%). Important comorbidities were malnutrition (15%), cognitive impairment (23%), and neurologic deficits (15%). The consequences of ACE were burns (16%), head injuries (postseizure) (1%), lack of education (43%), and being unmarried (67%) or unemployed (57%) in adults, all significantly more common than in those without epilepsy. Significance There were significant differences in the comorbidities across sites. Focal features are common in ACE, suggesting identifiable and

  11. [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.

  12. Phenobarbital or potassium bromide as an add-on antiepileptic drug for the management of canine idiopathic epilepsy refractory to imepitoin.

    Science.gov (United States)

    Royaux, E; Van Ham, L; Broeckx, B J G; Van Soens, I; Gielen, I; Deforce, D; Bhatti, S F M

    2017-02-01

    Imepitoin has recently been approved in Europe for the management of dogs with idiopathic epilepsy. Currently, there is no evidence-based information available on the efficacy of antiepileptic drugs used as additions to the therapeutic regimen in dogs with idiopathic epilepsy that are not well controlled with imepitoin. The goal of this study was to evaluate the efficacy of phenobarbital or potassium bromide (KBr) as add-on antiepileptic drugs for controlling dogs refractory to a maximum dose of imepitoin (30 mg/kg twice daily). The study was performed as a prospective, randomised, controlled clinical trial. The efficacy of phenobarbital and KBr was evaluated by comparing monthly seizure frequency (MSF), monthly seizure day frequency (MSDF), the presence of cluster seizures during a retrospective 2-month period with a prospective follow-up of 6 months, and the overall responder rate. Twenty-seven dogs were included in the study, 14 dogs in the phenobarbital group and 13 dogs in the KBr group. Both median MSF and MSDF decreased in the phenobarbital group (both P = 0.001) and in the KBr group (P = 0.004 and P = 0.003, respectively). Overall, the number of dogs with cluster seizures decreased (P = 0.0005). The responder rate was 79% vs. 69% in the phenobarbital and KBr groups, respectively. We conclude that phenobarbital or KBr add-on treatment decreases median MSF and MSDF in epileptic dogs refractory to a maximum dose of imepitoin. Combination therapy was generally well tolerated and resulted in an improvement in seizure management in the majority of the dogs. Copyright © 2017 Elsevier Ltd. All rights reserved.

  13. Cause-specific mortality in adult epilepsy patients from Tyrol, Austria: hospital-based study.

    Science.gov (United States)

    Granbichler, Claudia A; Oberaigner, Willi; Kuchukhidze, Giorgi; Bauer, Gerhard; Ndayisaba, Jean-Pierre; Seppi, Klaus; Trinka, Eugen

    2015-01-01

    Epilepsy is a devastating condition with a considerable increase in mortality compared to the general population. Few studies have focused on cause-specific mortality which we analyse in detail in over 4,000 well-characterized epilepsy patients. The cohort comprised of epilepsy patients ≥ 18, treated between 1970 and 2009 at the epilepsy clinic of Innsbruck Medical University, Austria, and living in the province of Tyrol, Austria. Epilepsy diagnosis was based on ILAE guidelines (1989); patients with brain tumor were excluded. Deceased patients and causes of death (ICD-codes) were obtained via record linkage to the national death registry. We computed age-, sex-, and period-adjusted standardized mortality rates (SMR) for 36 diagnoses subgroups in four major groups. Additional analyses were performed for an incidence cohort. Overall cohort: 4,295 patients, 60,649.1 person-years, 822 deaths, overall SMR 1.7 (95 % CI 1.6-1.9), highest elevated cause-specific SMR: congenital anomalies [7.1 (95 % CI 2.3-16.6)], suicide [4.2 (95 % CI 2.0-8.1)], alcohol dependence syndrome [3.9 (95 % CI 1.8-7.4)], malignant neoplasm of esophagus [3.1 (95 % CI 1.2-6.4)], pneumonia [2.7 (95 % CI 1.6-4.2)]. Incidence cohort: 1,299 patients, 14,215.4 person-years, 267 deaths, overall SMR 1.8 (95 % CI 1.6-2.1), highest elevated cause-specific SMR congenital anomalies [10.8 (95 % CI 1.3-39.3)], suicide [6.8 (95 % CI 1.4-19.8)], alcohol dependence syndrome (6.4 [95 % CI 1.8-16.5)], pneumonia [3.9 (95 % CI 1.8-7.4)], cerebrovascular disease at 3.5 (95 % CI 2.6-4.6). Mortality due to mental health problems, such as suicide or alcohol dependence syndrome, malignant neoplasms, and cerebrovascular diseases was highly increased in our study. In addition to aim for seizure freedom, we suggest improving general health promotion, including cessation of smoking, lowering of alcohol intake, and reduction of weight as well as early identification of psychiatric comorbidity in patients with epilepsy.

  14. A Case of Idiopathic Hypereosinophilic Syndrome Causing Mitral Valve Papillary Muscle Rupture

    Directory of Open Access Journals (Sweden)

    Tiffany Tamse

    2015-01-01

    Full Text Available Idiopathic Hypereosinophilic Syndrome (IHES is a rare disease that can be difficult to diagnose as the differential is broad. This disease can cause significant morbidity and mortality if left untreated. Our patient is a 17-year-old adolescent female who presented with nonspecific symptoms of abdominal pain and malaise. She was incidentally found to have hypereosinophilia of 16,000 on complete blood count and nonspecific colitis and pulmonary edema on computed tomography. She went into cardiogenic shock due to papillary rupture of her mitral valve requiring extreme life support measures including intubation and extracorporal membrane oxygenation (ECMO as well as mitral valve replacement. Pathology of the valve showed eosinophilic infiltration as the underlying etiology. The patient was diagnosed with IHES after the exclusion of infectious, rheumatologic, and oncologic causes. She was treated with steroids with improvement of her symptoms and scheduled for close follow-up. In general patients with IHES that have cardiac involvement have poorer prognoses.

  15. Indriven sphenoid wing as a cause of post-traumatic epilepsy.

    Science.gov (United States)

    Sumer, M M; Atasoy, H T; Unal, A; Kalayci, M; Mahmutyazicioglu, K; Erdem, O

    2003-11-01

    Post-traumatic epilepsy is more frequent after severe head injuries, however the severity of the trauma is not always correlated with the injured brain tissue. We report a patient whose seizures developed 4 years after a face trauma. Upward displacement of the sphenoid wing caused a contusion at the orbital surface of the frontal lobe. Computed tomography, magnetic resonance imaging and electroencephalographic findings are presented. The patient responded well to commonly used antiepileptic drugs.

  16. A case of idiopathic colonic varices: A rare cause of hematochezia misconceived as tumor

    Institute of Scientific and Technical Information of China (English)

    Joung-Ho Han; Won-Joong Jeon; Hee-Bok Chae; Seon-Mee Park; Sei-Jin Youn; Seok-Hyung Kim; Il-Hun Bae; Sang-Jeon Lee

    2006-01-01

    Colonic varices are a very rare cause of lower gastrointestinal bleeding. Fewer than 100 cases of colonic varices, and 30 cases of idiopathic colonic varices (ICV) have been reported in the English literature.Among these 30 cases of ICV, 19 cases were diagnosed by angiography, and 7 operated cases were diagnosed later as ileocecal vein deficit, hemangioma, and idiopathic in 1, 1, 5 cases, respectively. We report the case of a 24-year-old man who suffered from multiple episodes of hematochezia of varying degree at the age of 11 years. He had severe anemia with hemoglobin of 21 g/L. On colonoscopy, tortuously dilated submucosal vein and friable ulceration covered with dark necrotic tissues especially at the rectosigmoid region were seen from the rectum up to the distal descending colon. It initially appeared to be carcinoma with varices. Mesenteric angiographic study suggested a colonic hemangioma.Low anterior resection was done due to medically intractable and recurrent hematochezia. Other bowel and mesenteric vascular structures appeared normal.Microscopic examination revealed normal colonic mucosa with dilated veins throughout the submucosa and serosa without representing new vessel growth. Taken all of these findings together, the patient was diagnosed as ICV. His postoperative course was uneventful.

  17. Peri-ictal and inter-ictal headache in children and adolescents with idiopathic epilepsy: a multicenter cross-sectional study.

    Science.gov (United States)

    Verrotti, Alberto; Coppola, Giangennaro; Spalice, Alberto; Di Fonzo, Alessia; Bruschi, Raffaella; Tozzi, Elisabetta; Iannetti, Paola; Villa, Maria Pia; Parisi, Pasquale

    2011-09-01

    Headache in epileptic population ranges from 8% to 15%. The aim of this paper was to study the clinical and temporal characteristics of primary headache comorbidity in idiopathic epileptic children. From June 2006 to June 2009, a cross-sectional multi-center study involving five Italian Child Neurology University Centers (two in Rome, one in Chieti, one in Naples, and one in L'Aquila) was conducted. Among 1,264 consecutively newly diagnosed, idiopathic, partial, or generalized, epileptic children, according to ILAE diagnostic criteria (aged between 5 and 15 years of age), we selected 142 children (11.2%) (130 of whom completed the study) who showed an associated peri-ictal and/or inter-ictal headache diagnosed according to the International Headache Society Criteria. Rare cases of "ictal epileptic headache", in which headache represents the sole ictal epileptic manifestation, were excluded from this study. Post-ictal headaches were most frequent (62%). Pre-ictal headaches were less common (30%). Inter-ictal headaches were described in 57.6%. Clear migrainous features were present in 93% of pre-ictal and 81.4% of post-ictal headaches. Inter-ictal headaches meet criteria for migraines in 87%. The association between partial epilepsy and migraine without aura is most common and reported in 82% of our patients with peri-ictal headache and in 76.5% of patients with post-ictal headache.

  18. Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations.

    Science.gov (United States)

    Hawkins, Nicole A; Kearney, Jennifer A

    2016-01-01

    Mutations in voltage-gated sodium channel genes cause several types of human epilepsies. Often, individuals with the same sodium channel mutation exhibit diverse phenotypes. This suggests that factors beyond the primary mutation influence disease severity, including genetic modifiers. Mouse epilepsy models with voltage-gated sodium channel mutations exhibit strain-dependent phenotype variability, supporting a contribution of genetic modifiers in epilepsy. The Scn2a(Q54) (Q54) mouse model has a strain-dependent epilepsy phenotype. Q54 mice on the C57BL/6J (B6) strain exhibit delayed seizure onset and improved survival compared to [B6xSJL/J]F1.Q54 mice. We previously mapped two dominant modifier loci that influence Q54 seizure susceptibility and identified Hlf (hepatic leukemia factor) as a candidate modifier gene at one locus. Hlf and other PAR bZIP transcription factors had previously been associated with spontaneous seizures in mice thought to be caused by down-regulation of the pyridoxine pathway. An Hlf targeted knockout mouse model was used to evaluate the effect of Hlf deletion on Q54 phenotype severity. Hlf(KO/KO);Q54 double mutant mice exhibited elevated frequency and reduced survival compared to Q54 controls. To determine if direct modulation of the pyridoxine pathway could alter the Q54 phenotype, mice were maintained on a pyridoxine-deficient diet for 6 weeks. Dietary pyridoxine deficiency resulted in elevated seizure frequency and decreased survival in Q54 mice compared to control diet. To determine if Hlf could modify other epilepsies, Hlf(KO/+) mice were crossed with the Scn1a(KO/+) Dravet syndrome mouse model to examine the effect on premature lethality. Hlf(KO/+);Scn1a(KO/+) offspring exhibited decreased survival compared to Scn1a(KO/+) controls. Together these results demonstrate that Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations and that modulation of the pyridoxine pathway can also influence phenotype

  19. Submikroskopiske kromosomforandringer disponerer til epilepsi

    DEFF Research Database (Denmark)

    Møller, Rikke Steensbjerre; Hjalgrim, Helle

    2011-01-01

    Idiopathic generalised epilepsies (IGEs) affect up to 0.3% of the general population. Genetic factors play a predominant role in the aetiology of IGEs. Molecular genetic studies have mainly identified causative gene mutations in rare monogenic forms of idiopathic epilepsies. However, the genetic ...

  20. Mitochondrial dysfunction due to Leber's hereditary optic neuropathy as a cause of visual loss during assessment for epilepsy surgery.

    Science.gov (United States)

    Niehusmann, Pitt; Surges, Rainer; von Wrede, Randi D; Elger, Christian E; Wellmer, Jörg; Reimann, Jens; Urbach, Horst; Vielhaber, Stefan; Bien, Christian G; Kunz, Wolfram S

    2011-01-01

    Assessment for epilepsy surgery may require invasive measures such as implantation of intracranial electrodes or the Wada test. These investigations are commonly well tolerated. However, complications, including visual disturbances of various etiologies, have been reported. Here we describe two patients with pharmacoresistant temporal lobe epilepsy (TLE) who displayed loss of vision in the context of presurgical assessment and in whom mutations associated with Leber's hereditary optic neuropathy (LHON) were detected. Genetic analysis revealed in one patient the frequent mitochondrial G11778A LHON mutation in ND4. In the second patient, the mitochondrial C4640A mutation in ND2 was detected. This rare LHON mutation enhanced the sensitivity of the patient's muscle and brain tissue to amobarbital, a known blocker of the mitochondrial respiratory chain. Mitochondrial dysfunction has been reported in epilepsy. Thus, the presence of LHON mutations can be a rare cause of visual disturbances in patients with epilepsy and may have predisposed to development of epilepsy.

  1. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

    Science.gov (United States)

    Schubert, Julian; Siekierska, Aleksandra; Langlois, Mélanie; May, Patrick; Huneau, Clément; Becker, Felicitas; Muhle, Hiltrud; Suls, Arvid; Lemke, Johannes R; de Kovel, Carolien G F; Thiele, Holger; Konrad, Kathryn; Kawalia, Amit; Toliat, Mohammad R; Sander, Thomas; Rüschendorf, Franz; Caliebe, Almuth; Nagel, Inga; Kohl, Bernard; Kecskés, Angela; Jacmin, Maxime; Hardies, Katia; Weckhuysen, Sarah; Riesch, Erik; Dorn, Thomas; Brilstra, Eva H; Baulac, Stephanie; Møller, Rikke S; Hjalgrim, Helle; Koeleman, Bobby P C; Jurkat-Rott, Karin; Lehman-Horn, Frank; Roach, Jared C; Glusman, Gustavo; Hood, Leroy; Galas, David J; Martin, Benoit; de Witte, Peter A M; Biskup, Saskia; De Jonghe, Peter; Helbig, Ingo; Balling, Rudi; Nürnberg, Peter; Crawford, Alexander D; Esguerra, Camila V; Weber, Yvonne G; Lerche, Holger

    2014-12-01

    Febrile seizures affect 2-4% of all children and have a strong genetic component. Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy. Here we report the identification of mutations in STX1B, encoding syntaxin-1B, that are associated with both febrile seizures and epilepsy. Whole-exome sequencing in independent large pedigrees identified cosegregating STX1B mutations predicted to cause an early truncation or an in-frame insertion or deletion. Three additional nonsense or missense mutations and a de novo microdeletion encompassing STX1B were then identified in 449 familial or sporadic cases. Video and local field potential analyses of zebrafish larvae with antisense knockdown of stx1b showed seizure-like behavior and epileptiform discharges that were highly sensitive to increased temperature. Wild-type human syntaxin-1B but not a mutated protein rescued the effects of stx1b knockdown in zebrafish. Our results thus implicate STX1B and the presynaptic release machinery in fever-associated epilepsy syndromes.

  2. Long-Term Social Outcomes in Childhood Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-12-01

    Full Text Available Population-based longitudinal and cross-sectional studies of social outcomes of children with epilepsy in different countries are reviewed by researchers at Dalhousie University, Halifax, Nova Scotia, Canada.Epilepsy, Chronic Disease, Idiopathic Epilepsy.

  3. Idiopathic non-cirrhotic intrahepatic portal hypertension: common cause of cryptogenic intrahepatic portal hypertension in a Southern Indian tertiary hospital.

    Science.gov (United States)

    Madhu, Kadiyala; Avinash, Balekuduru; Ramakrishna, Banumathi; Eapen, C E; Shyamkumar, N K; Zachariah, Uday; Chandy, George; Kurian, George

    2009-01-01

    Patients with intrahepatic portal hypertension and negative etiological work-up for liver disease are often labeled as having cryptogenic cirrhosis. The aim of this study was to evaluate causes of liver disease in patients with unexplained intrahepatic portal hypertension. We retrospectively analyzed cause of liver disease in all patients with cryptogenic intrahepatic portal hypertension who underwent liver biopsies between June 2005 to June 2007 in our center. Five hundred and seventeen patients underwent liver biopsies of whom 227 had portal hypertension. Of these, the cause of liver disease could not be detected prior to liver biopsy in 62 patients. Causes of liver disease identified after liver biopsy in these 62 patients were: idiopathic non-cirrhotic intrahepatic portal hypertension (NCIPH) (30 patients, 48%), cirrhosis (14), fatty liver disease (7) and other causes (11). Initial presentations in idiopathic NCIPH patients were splenomegaly and anemia (18 patients), variceal bleed (9) and ascites (3). Median age (range) of patients at first presentation was 32 (15-57) years, and 19 were male. Majority (90%) were in Child's class A. Hepatic vein pressure gradient was <5 mmHg in 2 of 7 NCIPH patients tested. We identified 30 patients with idiopathic NCIPH at our center over the 2 year study period. The clinical presentation and investigations of NCIPH closely mimic cryptogenic cirrhosis. Idiopathic NCIPH should be considered as a differential diagnosis of cryptogenic cirrhosis in India.

  4. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

    Directory of Open Access Journals (Sweden)

    Dennis Lal

    Full Text Available The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laboratories are generating an ever-increasing catalogue of SCN1A variants. Variants are more likely to be classified as pathogenic if they have already been identified previously in a patient with epilepsy. Here, we critically re-evaluate the pathogenicity of this class of variants in a cohort of patients with common epilepsy syndromes and subsequently ask whether a significant fraction of benign variants have been misclassified as pathogenic.We screened a discovery cohort of 448 patients with a broad range of common genetic epilepsies and 734 controls for previously reported SCN1A mutations that were assumed to be disease causing. We re-evaluated the evidence for pathogenicity of the identified variants using in silico predictions, segregation, original reports, available functional data and assessment of allele frequencies in healthy individuals as well as in a follow up cohort of 777 patients.We identified 8 known missense mutations, previously reported as pathogenic, in a total of 17 unrelated epilepsy patients (17/448; 3.80%. Our re-evaluation indicates that 7 out of these 8 variants (p.R27T; p.R28C; p.R542Q; p.R604H; p.T1250M; p.E1308D; p.R1928G; NP_001159435.1 are not pathogenic. Only the p.T1174S mutation may be considered as a genetic risk factor for epilepsy of small effect size based on the enrichment in patients (P = 6.60 x 10-4; OR = 0.32, fishers exact test, previous functional studies but incomplete penetrance. Thus, incorporation of previous studies in genetic counseling of SCN1A sequencing results is challenging and may produce incorrect conclusions.

  5. Enigma (partially) resolved: phospholipase A2 receptor is the cause of "idiopathic" membranous glomerulonephritis.

    Science.gov (United States)

    Truong, Luan D; Seshan, Surya V

    2015-12-15

    Membranous glomerulonephritis (MGN) is a very significant kidney disease. It is one of the frequent causes of heavy protein excretion in urine. MGN is thought to be an immune-mediated disease caused by glomerular deposition of antigen-antibody complexes. The pathogenic antigen, however, has been an enigma until recently. It was discovered in 2009 that phospholipase A2 receptor (PLA2R), a normal transmembrane protein in podocyte plasma membrane, is the antigen causing MGN. Within 5 yr of its discovery, this seminal finding has leaded to novel insights into the treatment of this disease including diagnosis, therapy, and prediction of outcome. This finding also paves the way for fundamental studies on how and why autoimmunity against PLA2R develops. The discovery of PLA2A as the cause of "idiopathic" MGN after a half century of speculation, followed by further fundamental insights with such an expedient and successful application in patient care, embodies the elegance of science at its junction with society. This perspective traces the story of this remarkable discovery.

  6. EPILEPSY CAUSED BY PCDH19 GENE MUTATION: A REVIEW OF LITERATURE AND THE AUTHORS’ OBSERVATIONS

    Directory of Open Access Journals (Sweden)

    K. Yu. Mukhin

    2016-01-01

    Full Text Available Mutation in the PCDH19 gene was first described by L.M. Dibbens et al. in 2008. Mutations in this gene are associated with epilepsy and mental retardation limited to females. The clinical manifestations that are observed in some patients with PCDH19 mutation and Dravet syndrome that is caused by mutation in the SCN1A gene include the onset of febrile and afebrile seizures in infancy, serial seizures during fever, and regression in development after the onset of seizures. Due to the fact that the two diseases have common clinical signs, it is best to test for PCDH19 mutation in patients with the clinical picture of Dravet syndrome and a negative test for SCN1A. In general, the number of scientific papers devoted to analysis and recommendations for the choice of therapy in patients with rare genetic pathology is small now. We analyzed the specific features of clinical signs and therapy in our two observed female patients aged 4 and 11 years with verified PCDH19 mutation. Both patients were noted to have severe epilepsy with febrile convulsions with the development of status epilepticus and to be unresponsive to antiepileptic therapy. The use of different antiepileptic drugs (valproate, oxcarbazepine, phenobarbital, topiramate, levetiracetam at different combinations failed to control the course of epilepsy in the 4-year-old patient whereas the 11-year-old patient who took a combination of valproic acid and benzodiazepines achieved a positive effect.

  7. [Dysphagia caused by neurogenic deglutition disorders and diffuse idiopathic skeletal hyperostosis (DISH)].

    Science.gov (United States)

    Bremke, M; Wagner, H-J; Folz, B J

    2006-09-01

    Diffuse idiopathic skeletal hyperostosis (DISH) may lead to dysphagia caused by osteophytes of the cervical spine. Osteophytes can be resected transorally or transcervically, but operative ablation should not be indicated generously because of the threat of severe complications. A fifty-year-old man with dysphagia and loss of weight of 15 kg in the last three months is presented. He also suffered from a brain damage during infancy which caused grand-mal-seizures. One seizure lead to cardiac arrest which required cardio-pulmonary resuscitation and subsequent tracheostomy. A spheric tumor of the posterior pharyngeal wall could be seen endoscopically, it appeared radiologically as an osteophytic formation of the segments C (3) - C (5). Ossification of the anterior longitudinal ligament was also seen. Diagnosis of DISH was made on the basis of these results. Contrast imaging of the esophagus and videofluoroscopy showed aspiration in terms of neurogenic disorders. The patient received a percutaneous gastrostomy after his case was discussed with neurologic and orthopaedic colleagues, because a causal therapy of the combined disease seemed to be impossible. Dysphagia in the presented case was caused by a combination of neurogenic deglutition disorders and oropharyngeal obstruction through osteophytes. Surgical removal of the osteophytes was not indicated because it would have put the patient at a certain risk, but only a part of the underlying problem would have been removed. Symptomatic therapy with a gastrostomy secures normocaloric diet. The patient's weight remained stable and he can follow his habitual daily routine.

  8. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Science.gov (United States)

    Hsu, Sandy Chan; Sears, Renee L.; Lemos, Roberta R.; Quintáns, Beatriz; Huang, Alden; Spiteri, Elizabeth; Nevarez, Lisette; Mamah, Catherine; Zatz, Mayana; Pierce, Kerrie D.; Fullerton, Janice M.; Adair, John C.; Berner, Jon E.; Bower, Matthew; Brodaty, Henry; Carmona, Olga; Dobricić, Valerija; Fogel, Brent L.; García-Estevez, Daniel; Goldman, Jill; Goudreau, John L.; Hopfer, Suellen; Janković, Milena; Jaumà, Serge; Jen, Joanna C.; Kirdlarp, Suppachok; Klepper, Joerg; Kostić, Vladimir; Lang, Anthony E.; Linglart, Agnès; Maisenbacher, Melissa K.; Manyam, Bala V.; Mazzoni, Pietro; Miedzybrodzka, Zofia; Mitarnun, Witoon; Mitchell, Philip B.; Mueller, Jennifer; Novaković, Ivana; Paucar, Martin; Paulson, Henry; Simpson, Sheila A.; Svenningsson, Per; Tuite, Paul; Vitek, Jerrold; Wetchaphanphesat, Suppachok; Williams, Charles; Yang, Michele; Schofield, Peter R.; de Oliveira, João R. M.; Sobrido, María-Jesús

    2014-01-01

    Familial idiopathic basal ganglia calcification (IBGC) or Fahr’s disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2, the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC. We recruited 218 subjects from 29 IBGC-affected families of varied ancestry and collected medical history, neurological exam, and head CT scans to characterize each patient’s disease status. We screened our patient cohort for mutations in SLC20A2. Twelve novel (nonsense, deletions, missense, and splice site) potentially pathogenic variants, one synonymous variant, and one previously reported mutation were identified in 13 families. Variants predicted to be deleterious cosegregated with disease in five families. Three families showed nonsegregation with clinical disease of such variants, but retrospective review of clinical and neuroimaging data strongly suggested previous misclassification. Overall, mutations in SLC20A2 account for as many as 41 % of our familial IBGC cases. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial IBGC. Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation. PMID:23334463

  9. An epidemiologic study of 389 children with epilepsy in southern Iran

    Directory of Open Access Journals (Sweden)

    Soroor INALOO

    2011-09-01

    Full Text Available ObjectiveApproximately 4% of the world's population experience one or more febrile seizures during their lifetime, and 0.5-1% of the population has active epilepsy.Less than one-third of the reported seizures are categorized as epilepsy. The cause of established epilepsy is important in determining the treatment and prognosis.Materials & MethodsWe studied 389 cases of documented epilepsy in children aged 2 months to 18 years who visited the hospital for neurologic examination during 2005-2010.Chi-square test or Fisher's exact test was performed for categorical variables.ResultsThe most common age for the first seizure was below 2 years, and the most common type of epilepsy was generalized tonic-clonic seizure. Electroencephalography (EEG showed an epileptic pattern in 60%, 29.8%, and 51% of the patients with idiopathic, symptomatic, and cryptogenic epilepsy, respectively. This pattern was significantly different among these 3 categories of epilepsy.ConclusionThe most common type of seizure was cryptogenic; however, in most industrialized countries, idiopathic epilepsies were more frequent. With respect to the age and sex of patients, the prevalence of epilepsy in southern Iran is not so much different from that of patients in other parts of the world. As to generalized or partial epilepsy, there are different reports from different part ofthe world; however, generalized tonic-clonic seizures were more common in our area.

  10. 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.

  11. Management of multifactorial idiopathic epilepsy in EL mice with caloric restriction and the ketogenic diet: role of glucose and ketone bodies

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    Mantis John G

    2004-10-01

    Full Text Available Abstract Background The high fat, low carbohydrate ketogenic diet (KD was developed as an alternative to fasting for seizure management. While the mechanisms by which fasting and the KD inhibit seizures remain speculative, alterations in brain energy metabolism are likely involved. We previously showed that caloric restriction (CR inhibits seizure susceptibility by reducing blood glucose in the epileptic EL mouse, a natural model for human multifactorial idiopathic epilepsy. In this study, we compared the antiepileptic and anticonvulsant efficacy of the KD with that of CR in adult EL mice with active epilepsy. EL mice that experienced at least 15 recurrent complex partial seizures were fed either a standard diet unrestricted (SD-UR or restricted (SD-R, and either a KD unrestricted (KD-UR or restricted (KD-R. All mice were fasted for 14 hrs prior to diet initiation. A new experimental design was used where each mouse in the diet-restricted groups served as its own control to achieve a 20–23% body weight reduction. Seizure susceptibility, body weights, and the levels of plasma glucose and β-hydroxybutyrate were measured once/week over a nine-week treatment period. Results Body weights and blood glucose levels remained high over the testing period in the SD-UR and the KD-UR groups, but were significantly (p Conclusions The results indicate that seizure susceptibility in EL mice is dependent on plasma glucose levels and that seizure control is more associated with the amount than with the origin of dietary calories. Also, CR underlies the antiepileptic and anticonvulsant action of the KD in EL mice. A transition from glucose to ketone bodies for energy is predicted to manage EL epileptic seizures through multiple integrated changes of inhibitory and excitatory neural systems.

  12. Recognition of facial emotions and identity in patients with mesial temporal lobe and idiopathic generalized epilepsy: an eye-tracking study.

    Science.gov (United States)

    Gomez-Ibañez, Asier; Urrestarazu, Elena; Viteri, Cesar

    2014-11-01

    To describe visual scanning pattern for facial identity recognition (FIR) and emotion recognition (FER) in patients with idiopathic generalized (IGE) and mesial temporal lobe epilepsy (MTLE). Secondary endpoint was to correlate the results with cognitive function. Benton Facial Recognition Test (BFRT) and Ekman&Friesen series were performed for FIR and FER respectively in 23 controls, 20 IGE and 19 MTLE patients. Eye movements were recorded by a Hi-Speed eye-tracker system. Neuropsychological tools explored cognitive function. Correct FIR rate was 78% in controls, 70.7% in IGE and 67.4% (p=0.009) in MTLE patients. FER hits reached 82.7% in controls, 74.3% in IGE (p=0.006) and 73.4% in MTLE (p=0.002) groups. IGE patients failed in disgust (p=0.005) and MTLE ones in fear (p=0.009) and disgust (p=0.03). FER correlated with neuropsychological scores, particularly verbal fluency (r=0.542, p<0.001). Eye-tracking revealed that controls scanned faces more diffusely than IGE and MTLE patients for FIR, who tended to top facial areas. A longer scanning of the top facial area was found in the three groups for FER. Gap between top and bottom facial region fixation time decreased in MTLE patients, with more but shorter fixations in bottom facial region. However, none of these findings were statistically significant. FIR was impaired in MTLE patients, and FER in both IGE and MTLE, particularly for fear and disgust. Although not statistically significant, those with impaired FER tended to perform more diffuse eye-tracking over the faces and have cognitive dysfunction. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  13. Therapy for epilepsy in women: Additional sanogenetic effect caused by the intake of topiramate

    Directory of Open Access Journals (Sweden)

    P. N. Vlasov

    2015-01-01

    Full Text Available Objective: to investigate the efficacy/tolerability of topiramate in reproductive-aged women.Subjects and methods. A group of 58 patients in fertile age (18–35 years with a long history of focal (n=44 or idiopathic generalized (n=14 epilepsy (FE and IGE who received mainly combined therapy with 2 antiepileptic drugs (AEDs was analyzed. 82.8% of the patients were overweight; 51.7% had one or other menstrual cycle disorders; however, the women had been followed up by a gynecologist in exceptional cases.Results. Switch from one of the parent AEDs to topiramate or its incorporation into a treatment regimen as an additional drug substantially improved the course of the disease: remission at 12 months was achieved in 59.1% of the patients with FE and 78.6% of those with IGE. 29.3% of the patients receiving dual therapy, the second medication of which was topiramate, were observed to have lost weight not only if those had high baseline body mass index (BMI, but also if those had normal BMI at baseline. 8.6% of all the patients and 16.7% of those with menstrual cycle disorder achieved normalization of menstrual function. Topiramate was discontinued only in 1 (1.7% patient because of critical weight loss (BMI<15. In addition to substantial improvement, topiramate used in mono- or dual therapy for FE and IGE may normalize weight and a menstrual cycle. Menstrual function is indicated to be monitored in epileptic women.

  14. Circadian phase typing in idiopathic generalized epilepsy: Dim light melatonin onset and patterns of melatonin secretion-Semicurve findings in adult patients.

    Science.gov (United States)

    Manni, Raffaele; De Icco, Roberto; Cremascoli, Riccardo; Ferrera, Giulia; Furia, Francesca; Zambrelli, Elena; Canevini, Maria Paola; Terzaghi, Michele

    2016-08-01

    It has been debated in the literature whether patients with idiopathic generalized epilepsy (IGE) have a distinctive, evening-oriented chronotype. The few questionnaire-based studies that are available in the literature have conflicting results. The aim of our study was to define chronotype in patients with IGE by determining dim light melatonin onset (DLMO). Twenty adults diagnosed with IGE (grand mal on awakening [GM] in 7 cases and juvenile myoclonic epilepsy in 13 cases) were investigated by means of a face-to-face semistructured sleep interview, Morningness-Eveningness Questionnaire (MEQ), Pittsburgh Sleep Quality Index (PSQI) questionnaire, and a melatonin salivary test with DLMO determination. Eighteen healthy subjects (HC) and 28 patients affected with cryptogenic focal epilepsy (FE) served as controls. The mean MEQ score was significantly lower in patients with IGE than that in patients with FE (49.1±5.9 versus 56.1±8.7 P<0.01) but not significantly lower than that in HC (49.1±5.9 versus 49.3±8.6). Midsleep on free days corrected for sleep duration did not differ significantly between the three subject groups (04:59±01:21h, 04:37±01:17h, 04:29±00:52h). The mean DLMO time in patients with IGE (22:13±01:34h) occurred 49min later than that in HC (21.24±1h), and the melatonin surge within the 30-minute time interval after DLMO in patients with IGE was significantly lower than that in HC (1.51±2.7 versus 3.8±3.6pg/mL P=0.045). Subjective measures of chronotype do not indicate a definite evening-oriented chronotype in patients with IGE. However, the data concerning endogenous melatonin secretion indicate that patients with IGE tend to have a late circadian phase. Further studies are warranted in order to better define the late pattern of endogenous melatonin secretion in patients with IGE and to ascertain the role of this pattern in influencing behavioral chronotype in these subjects. Copyright © 2016. Published by Elsevier Inc.

  15. 儿童特发性癫痫与睡眠的相关性研究%Study on correlation of children idiopathic epilepsy and sleep

    Institute of Scientific and Technical Information of China (English)

    汤春辉; 杨景晖

    2012-01-01

    目的 探讨儿童特发性癫痫样放电与睡眠时相的关系及癫痫对睡眠结构的影响.方法 对55例癫痫患者的动态脑电图(AEEG)监测,并对结果进行分析.结果 55例癫痫患儿中痫样放电共49例(89.1%),睡眠期出现45例(91.8%),以NREMⅠ、Ⅱ期最多见.睡眠中全身性发作35例、部分性发作继发全身性发作4例均出现于NREMⅠ、Ⅱ期.与对照组比较,癜痫患儿总睡眠时间、REM期较正常对照组差异无统计学意义(P>0.05),但NREM Ⅰ、Ⅱ期显著延长,而NREMⅢ、Ⅳ期明显缩短,睡眠潜伏期延长(P<0.01).癫痫患者睡眠纺锤波出现不对称、减少或消失.结论 瘸样放电主要发生于睡眠期NREMⅠ、Ⅱ期,癫痫也改变着睡眠结构,引起睡眠障碍.不同癫痫发作类型与睡眠时相有一定的关系.%OBJECTIVE To investigate the relationship between idiopathic epileptiform discharge and sleep phase, and the effect of epilepsy on sleep architecture. METHODS Monitored and analyzed active EEG of 55 patients with epilepsy. RESULTS Among 55 cases, epileptiform discharge was found in 49 cases (89.1%), of which, 45 cases showed in sleep stage, and NREM Ⅰ and Ⅱ stage were most common. Both 35 generalized seizure and 4 partial seizure with secondarily generalized seizure appeared in NREM Ⅰ and Ⅱ stage. Compared with the control group, total sleep time and REM phase in epileptic children were not different (P> 0.05). However, NREM Ⅰ and Ⅱ stage prolonged obviously, NREM Ⅲ and Ⅳ stage shortened significantly, and sleep latency prolonged (P < 0.01). Sleep spindles in epileptic children appeared asymmetry, reduced or disappeared. CONCLUSION Epileptiform discharge mainly appears in NREM Ⅰ and Ⅱ stage, and epilepsy changes sleep architecture and results in sleep disorders. There are some relations between seizure types and sleep phases.

  16. Idiopathic neonatal necrotising fasciitis caused by community-acquired MSSA encoding Panton Valentine Leukocidin genes.

    LENUS (Irish Health Repository)

    Dunlop, Rebecca L E

    2012-02-01

    Neonatal necrotising fasciitis is very rare in comparison to the adult presentation of the disease and a Plastic Surgeon may only encounter one such case during his or her career. Often this is initially misdiagnosed and managed as simple cellulitis. It generally affects previously healthy babies, the site is often the lower back area and a history of minor skin trauma may be elicited. The causative organism is usually Streptococcus or polymicrobial, as is the case in the adult population. We present the case of a previously healthy 11-day-old infant with idiopathic, rapidly progressive necrotising fasciitis of the back, cause by Methicillin sensitive Staphylococcus aureus (MSSA) infection. The strain was isolated and found to encode the Panton-Valentine Leukocidin genes, which have been associated with particularly severe necrotising infections in other sites, with high mortality. These strains are the subject of specific treatment and eradication guidance in the UK but awareness of this and the importance of obtaining detailed culture typing is likely to be low amongst Plastic Surgeons.

  17. Autoimmune encephalitis: A potentially reversible cause of status epilepticus, epilepsy, and cognitive decline

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    Awadh Kishor Pandit

    2013-01-01

    Full Text Available Objectives: To review clinical characteristics and response to immunomodulation therapy in autoimmune encephalitis presenting with status epilepticus (SE, epilepsy, and cognitive decline. Design: Observational, prospective case series. Setting: All India Institute of Medical Sciences, New Delhi, India. Materials and Methods: Prospective analysis of 15 patients, who presented with SE, epilepsy, cognitive decline, and other neurological symptoms with positive autoantibodies. Demographic and clinical characteristics were recorded. Brain magnetic resonance imaging (MRI, cerebrospinal-fluid analysis (CSF, and tumor screening were done periodically. Treatment received and responses (categorized as per patients and treating doctor′s information were noted. Results: There were 15 (males = 10 patients of autoimmune encephalitis. The mean age of presentation was 24 years (range: 2-64 years. The most common onset was subacute (64% and four (29% patients presented as SE. Predominant clinical presentations were seizures (100% almost of every semiology. CSF was done in 10 patients; it was normal in 60%. Brain MRI was done in all patients, in six (40% it was normal, six (40% showed T2W and FLAIR hyperintensities in bilateral limbic areas. Antibodies found were the N-methyl-D-aspartate receptor antibody in seven (50%, voltage-gated potassium channel antibody in five (36%, two of antiglutamic acid decarboxylase, and one patient with double stranded DNA (dsDNA antibodies. None showed evidence of malignancy. Patients received immunotherapy, either steroids, intravenous immunoglobulin, or both. Follow-up showed significant improvement in majority of cases, neither further seizures nor relapse in nine (67% cases. One death occurred, due to delayed presentation. Conclusions: Uncommon but potentially reversible causes of SE, epilepsy, and cognitive decline may be immune-related and high index of suspicion will prevent missing the diagnosis.

  18. IDIOPATHIC SCLEROSING ENCAPSULATING PERITONITIS CAUSING ACUTE INTESTINAL OBSTRUCTION AND GANGRENE: A CASE REPORT

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    Nava

    2016-04-01

    Full Text Available INTRODUCTION Sclerosing encapsulating peritonitis (SEP is a relatively rare cause of intestinal obstruction resulting from encasement of variable lengths of bowel by dense fibro-collagenous membrane. It is more common in young females, and shows tropical and sub-tropical distribution. The idiopathic cases of SEP, which lack any identifiable cause from clinical, radiological and histopathological findings, are also reported under the descriptive term “abdominal cocoon syndrome”. SEP presents with acute or sub-acute intestinal obstruction with or without a mass. In the era of laparoscopic surgery, inadvertent damage to the small bowel at insertion of the trocar and cannula can occur by being unaware of this condition resulting in unnecessary bowel resection. Persistent untreated SEP may advance to bowel gangrene or intestinal perforation, representing life threatening conditions. We report the clinical presentation of a 75-year-old female presenting with signs of intestinal obstruction whose imaging findings revealed abdominal cocoon with bowel gangrene leading to perforation and the same confirmed at surgery. Surgical excision of the fibrotic sac encasing the bowel, resection of gangrenous bowel segment and end ileostomy was performed. Histopathology of the excised membrane confirmed sclerosing encapsulating peritonitis. To our knowledge, only a few cases of abdominal cocoon with perforation have been reported in literature so far. Radiologists should be aware of this relatively rare cause of intestinal obstruction, its imaging findings and complications, as preoperative diagnosis will prevent delay and aid in treatment planning to the surgeon. Identification of soft tissue density membrane encasing congregated small bowel loops into a single area on computed-tomography gives diagnostic clue. Surgical excision of sac, release of bowel loops and adhesions with partial intestinal resection when necessary is the treatment.

  19. High-density SNP screen of sodium channel genes by haplotype tagging and DNA pooling for association with idiopathic generalized epilepsy.

    Science.gov (United States)

    Makoff, Andrew; Lai, Teck; Barratt, Catherine; Valentin, Antonio; Moran, Nick; Asherson, Philip; Nashef, Lina

    2010-04-01

    We have investigated seven voltage-gated sodium channel genes for association with idiopathic generalized epilepsy (IGE). Probands and control DNA were grouped into pools and used to screen 85 single-nucleotide polymorphisms (SNPs), mostly HapMap SNPs tagging the common variation in these genes. Twelve SNPs exhibiting an allele frequency difference between pools were genotyped individually in our sample of 232 probands, 313 controls, and 95 parent-proband trios. Two SNPs, in SCN1A and SCN8A, were associated by allele and genotype at nominal level of significance, but were not significant after Bonferroni correction. Two SCN2A SNPs (rs3943809 and rs16850331) were associated by case-control with a subgroup with IGE and history of febrile seizures and also by transmission disequilibrium test (TDT) in parent-proband trios. Both SNPs are part of a linkage disequilibrium (LD) cluster of 38 SNPs, but none are obvious functional variants. The association of rs3943809 with the febrile seizure subgroup (p = 0.0004) remains significant after the conservative Bonferroni correction for multiple testing.

  20. Curative effect and costs of surgical and gamma knife treatments on intractable epilepsy caused by temporal-hippocampal sclerosis.

    Science.gov (United States)

    Han, Z T; Chen, Q X

    2015-07-31

    This study aimed to investigate the curative effect and costs of surgical and gamma knife treatments on intractable epilepsy caused by temporal-hippocampal sclerosis. The subjects comprised patients who suffered from intractable epilepsy caused by temporal-hippocampal sclerosis and received treatment in the Department of Neurosurgery of our hospital between 2010 and 2011. After obtaining their consent, patients were evaluated and selected to receive surgical or gamma knife treatments. In the surgical group, the short-term curative rate was 92.60% and the average cost was US$ 1311.50 while in the gamma knife group, the short-term curative rate was 53.79%, and the average cost was US$ 2786.90. Both surgical and gamma knife treatments of intractable epilepsy caused by temporal-hippocampal sclerosis are safe and effective, but the short-term curative effect of surgical treatment is better than that of gamma knife, and its cost is lower.

  1. Dissociation between affective and cognitive empathy in patients with idiopathic generalized epilepsy%原发性癫痫患者共情能力的研究

    Institute of Scientific and Technical Information of China (English)

    胡颖; 蒋玉宝; 胡盼盼; 汪凯

    2014-01-01

    Objective To explore different aspects of empathy in patients with idiopathic generalized epilepsy and to study the effect of epileptiform discharges from different areas of the brain on empathy.Methods One hundred and fifty healthy controls and 62 patients with idiopathic generalized epilepsy were administered with a neuropsychological battery for basic cognitive assessment and an empathy scale after 24-hour electroencephalography monitoring.Results Compared with healthy controls,patients with epilepsy obtained significantly lower total scores and the cognitive empathy scores including perspectivetaking and fantasy subscale of the Interpersonal Reactivity Index-China (46.39 ± 9.74 vs 50.99 ± 9.97,t =-2.893,P=0.004; 23.31 ±7.10 vs 27.24 ±6.22,t =-3.974,P =0.000; 10.18 ±4.21 vs 11.84 ± 3.67,t =-2.838,P =0.005 ; 13.13 ± 4.46 vs 15.40 ± 3.84,t =-3.698,P =0.000,respectively).In contrast,the individuals with epilepsy did not score significantly different on the affective empathy,empathic concern and personal distress (P > 0.05,respectively).Patients with frontal epileptiform discharges suffered the most on the total empathy scores,cognitive empathy and perspective-taking subscale when compared with other three groups of individuals (P <0.05,respectively),whereas the groups did not differ from each other in affective empathy,empathic concern and personal distress (P >0.05,respectively).No correlation was found between the empathy ability and other cognitive neuropsychological tests.Conclusions Patients with idiopathic generalized epilepsy is not associated with a general empathy deficit,but rather with a dissociated pattern combining impaired cognitive empathy and preserved affective one,which leads to a double-dissociation,supports the notion that affective and cognitive empathies are two distinct abilities.The activation of epileptiform discharges from the frontal lobe is a key factor that could diminish the empathy ability.%目的 通过对不同部位

  2. A controlled investigation of the cause of chronic idiopathic axonal polyneuropathy.

    Science.gov (United States)

    Hughes, R A C; Umapathi, T; Gray, I A; Gregson, N A; Noori, M; Pannala, A S; Proteggente, A; Swan, A V

    2004-08-01

    To investigate the aetiology of chronic idiopathic axonal polyneuropathy (CIAP), 50 consecutive patients were compared with 50 control subjects from the same region. There were 22 patients with painful neuropathy and 28 without pain, 26 with sensory neuropathy and 24 with sensory and motor neuropathy. The typical picture was a gradually progressive sensory or sensory and motor neuropathy. It caused mild or sometimes moderate disability, and reduced the quality of life. There was no evidence that alcohol, venous insufficiency, arterial disease or antibodies to peripheral nerve antigens played a significant part. There was a possible history of peripheral neuropathy in the first or second-degree relatives of six patients and no controls (P = 0.01), and claw toes were present in 12 patients and four controls (P = 0.03). Thirty-two per cent of the patients and 14% of the controls had impaired glucose tolerance or fasting hyperglycaemia but, after adjusting for age and sex, the difference was not significant (P = 0.45), even in the painful neuropathy subgroup. The mean (SD) fasting insulin concentrations were significantly (P = 0.01) higher in the patients [75.9 (44.4) mmol/l] than the controls [47.3 (37.9) mmol/l], and the mean was higher still in the painful neuropathy subgroup [92.2 (37.1) mmol/l] (P environmental toxin exposure and hypertriglyceridaemia, but not glucose intolerance or alcohol overuse as significant risk factors that deserve further investigation as possible causes of CIAP.

  3. Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear.

    Science.gov (United States)

    Aridon, Paolo; Marini, Carla; Di Resta, Chiara; Brilli, Elisa; De Fusco, Maurizio; Politi, Fausta; Parrini, Elena; Manfredi, Irene; Pisano, Tiziana; Pruna, Dario; Curia, Giulia; Cianchetti, Carlo; Pasqualetti, Massimo; Becchetti, Andrea; Guerrini, Renzo; Casari, Giorgio

    2006-08-01

    Sleep has traditionally been recognized as a precipitating factor for some forms of epilepsy, although differential diagnosis between some seizure types and parasomnias may be difficult. Autosomal dominant frontal lobe epilepsy is characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements and has been associated with mutations of the alpha 4 and beta 2 subunits of the neuronal nicotinic acetylcholine receptor. We performed a clinical and molecular genetic study of a large pedigree segregating sleep-related epilepsy in which seizures are associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking. We identified a new genetic locus for familial sleep-related focal epilepsy on chromosome 8p12.3-8q12.3. By sequencing the positional candidate neuronal cholinergic receptor alpha 2 subunit gene (CHRNA2), we detected a heterozygous missense mutation, I279N, in the first transmembrane domain that is crucial for receptor function. Whole-cell recordings of transiently transfected HEK293 cells expressing either the mutant or the wild-type receptor showed that the new CHRNA2 mutation markedly increases the receptor sensitivity to acetylcholine, therefore indicating that the nicotinic alpha 2 subunit alteration is the underlying cause. CHRNA2 is the third neuronal cholinergic receptor gene to be associated with familial sleep-related epilepsies. Compared with the CHRNA4 and CHRNB2 mutations reported elsewhere, CHRNA2 mutations cause a more complex and finalized ictal behavior.

  4. Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizures.

    Science.gov (United States)

    Yeghiazaryan, Nune S; Zara, Federico; Capovilla, Giuseppe; Brigati, Giorgia; Falsaperla, Raffaele; Striano, Pasquale

    2012-03-01

    Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants. PDE patients are typically resistant to anti-epileptic treatment but respond to the administration of pyridoxine. Different seizure types have been reported in PDE, and episodes of status epilepticus are common. Electroencephalographic or neuroimaging abnormalities are not pathognomonic for this disorder. Intellectual disability is frequent at the follow-up. Recently, elevated urinary α-aminoadipic semialdehyde has been shown to be a reliable biomarker of this disorder, and mutations in the ALDH7A1 gene, encoding α-aminoadipic semialdehyde dehydrogenase, have been demonstrated in the large majority of PDE patients. However, early consideration of a pyridoxine trial remains the most important issue in a neonate or in an infant with intractable early onset seizures.

  5. 原发性癫痫情绪识别能力的研究%A study on emotion recognition in patients with idiopathic epilepsy

    Institute of Scientific and Technical Information of China (English)

    胡颖; 蒋玉宝; 马慧娟; 余凤琼; 汪凯

    2014-01-01

    目的 研究原发性癫痫患者情绪加工和社会认知功能,并探讨其相关影响因素.方法 经神经心理学背景测试后对70例不同脑区痫样放电的原发性癫痫患者和153例健康对照进行眼区基本情绪(喜、怒、悲、恐、厌、惊)和复杂情绪识别评分比较.结果 原发性癫痫组在六种眼区基本情绪识别正确数、总情绪识别正确数及眼区复杂情绪识别正确数[分别喜(19.3±2.0)分、怒(17.9±2.0)分、悲(18.1±2.3)分、恐(16.4±1.9)分、厌(17.6±2.1)分、惊(18.3±1.5)分、总基本情绪(107.7±8.1)分、复杂情绪(23.3±4.2)分]上均显著低于健康对照组[分别喜(19.9±0.2)分、怒(18.9±1.0)分、悲(19.2±1.0)分、恐(17.6±1.3)分、厌(18.6±1.2)分、惊(19.1±1.1)分、总基本情绪(113.4±3.4)分、复杂情绪(27.1±2.8)分],差异均有统计学意义(均P<0.05);在男女性别判断任务上与健康对照组差异无统计学意义(P>0.05);癫痫组眼区基本和复杂情绪识别得分之间存在正相关(r=0.444,P=0.000),基本情绪识别得分与正序、逆序数字广度得分正相关(P<0.05),复杂情绪识别与逆序数字广度、Stroop效应相关(P<0.05),同时基本和复杂情绪都与贝克抑郁评分和汉密尔顿焦虑评分负相关(均P<0.05).结论 原发性癫痫病人存在情绪加工和心理理论受损,执行功能和焦虑抑郁水平可能是影响社会认知能力的因素.%Objective To investigate the abilities of emotion recognition and social cognition in patients with idiopathic epilepsy and further explore the factors related to the impairments.Methods After 24-hour EEG monitoring,70 people with idiopathic epilepsy were administered with a neuropsychological battery for basic cognitive assessment and then were tested with the Eye Basic Emotion Discrimination Task (EBEDT) and the Eye Complex Emotion Discrimination Task (ECEDT).Results Compared with health controls,people with epilepsy got significantly

  6. Voltage-Gated Channels as Causative Agents for Epilepsies

    Directory of Open Access Journals (Sweden)

    Mutasem Abuhamed

    2008-01-01

    Full Text Available Problem statement: Epilepsy is a common neurological disorder that afflicts 1-2% of the general population worldwide. It encompasses a variety of disorders with seizures. Approach: Idiopathic epilepsies were defined as a heterogeneous group of seizure disorders that show no underlying cause .Voltage-gated ion channels defect were recognized etiology of epilepsy in the central nervous system. The aim of this article was to provide an update on voltage-gated channels and their mutation as causative agents for epilepsies. We described the structures of the voltage-gated channels, discuss their current genetic studies, and then review the effects of voltage-gated channels as causative agents for epilepsies. Results: Channels control the flow of ions in and out of the cell causing depolarization and hyper polarization of the cell. Voltage-gated channels were classified into four types: Sodium, potassium calcium ands chloride. Voltage-gated channels were macromolecular protein complexes within the lipid membrane. They were divided into subunits. Each subunit had a specific function and was encoded by more than one gen. Conclusion: Current genetic studies of idiopathic epilepsies show the importance of genetic influence on Voltage-gated channels. Different genes may regulate a function in a channel; the channel defect was directly responsible for neuronal hyper excitability and seizures.

  7. Epilepsy caused by an abnormal alternative splicing with dosage effect of the SV2A gene in a chicken model.

    Directory of Open Access Journals (Sweden)

    Marine Douaud

    Full Text Available Photosensitive reflex epilepsy is caused by the combination of an individual's enhanced sensitivity with relevant light stimuli, such as stroboscopic lights or video games. This is the most common reflex epilepsy in humans; it is characterized by the photoparoxysmal response, which is an abnormal electroencephalographic reaction, and seizures triggered by intermittent light stimulation. Here, by using genetic mapping, sequencing and functional analyses, we report that a mutation in the acceptor site of the second intron of SV2A (the gene encoding synaptic vesicle glycoprotein 2A is causing photosensitive reflex epilepsy in a unique vertebrate model, the Fepi chicken strain, a spontaneous model where the neurological disorder is inherited as an autosomal recessive mutation. This mutation causes an aberrant splicing event and significantly reduces the level of SV2A mRNA in homozygous carriers. Levetiracetam, a second generation antiepileptic drug, is known to bind SV2A, and SV2A knock-out mice develop seizures soon after birth and usually die within three weeks. The Fepi chicken survives to adulthood and responds to levetiracetam, suggesting that the low-level expression of SV2A in these animals is sufficient to allow survival, but does not protect against seizures. Thus, the Fepi chicken model shows that the role of the SV2A pathway in the brain is conserved between birds and mammals, in spite of a large phylogenetic distance. The Fepi model appears particularly useful for further studies of physiopathology of reflex epilepsy, in comparison with induced models of epilepsy in rodents. Consequently, SV2A is a very attractive candidate gene for analysis in the context of both mono- and polygenic generalized epilepsies in humans.

  8. Idiopathic scoliosis.

    Science.gov (United States)

    Yaman, Onur; Dalbayrak, Sedat

    2014-01-01

    Scoliosis refers to curves exceeding 10 degrees observed through posterioanterior direct radiography. In fact, the diagnosis for idiopathic scoliosis is accepted to exclude already available causes. The aim of this paper was to review the etiopathogenesis, classification systems and the treatment management of idiopathic scoliosis. A search in the National Library of Medicine (Pubmed) database using the key words 'idiopathic' and 'scoliosis' was performed. For the literature review, papers concerning the etiopathogenesis, classification and treatment were selected among these articles. A search in the National Library of Medicine (Pubmed) database using the key words 'idiopathic' and 'scoliosis' yielded 4518 articles published between 1947 and 2013. The main hypothesis put forward included genetic factors, hormonal factors, bone and connective tissue anomalies. King, Lenke, Coonrad and Peking Union Medical College (PUMC) classifications were the main classification systems for idiopathic scoliosis. Exercise, bracing and anterior, posterior or combined surgery when indicated are the choices for the treatment. Every idiopathic scoliosis case has to be managed to its own characteristics. It is the post-operative appearance that the surgeons are perhaps the least interested but the adolescent patients the most interested in. The aim of scoliosis surgery is to restore the spine without neurological deficit.

  9. Idiopathic calcification of the seminal vesicles: a rare cause for prostate cancer overstaging.

    Science.gov (United States)

    Pannek, J; Senge, T

    2001-01-01

    Calcification of the seminal vesicles is a rare phenomenon. We present 2 cases in whom calcification of the seminal vesicles led to preoperative overstaging of prostate cancer. Although idiopathic calcifications are extremely rare, calcifications appear more frequently in diabetic patients. Therefore, knowledge of these formations is essential to prevent overstaging, namely infiltration of the seminal vesicles.

  10. Intestinal perforation caused by non specific idiopathic ulcer of the small intestine. A case report.

    Science.gov (United States)

    Cavallaro, V; Racalbuto, A; Russello, D; Succi, L; Fragati, G; Catania, V

    1989-01-01

    A case of non specific idiopathic ulcer of the small intestine in a 79-year-old patient is reported. On admission he presented with acute abdomen and was submitted to wide intestinal resection. The features of this rare disease (only 370 cases described until 1987), which has an undefined etiopathogenesis, severe symptoms, and poses diagnostic problems, are discussed.

  11. Diffuse idiopathic skeletal hyperostosis of cervical spine - An unusual cause of difficult flexible fiber optic intubation

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    Baxi Vaibhavi

    2010-01-01

    Full Text Available This is a report of anterior osteophytes on the cervical vertebra resulting in distortion of the airway and leading to difficulty during intubation. The osteophytes associated with the syndrome of diffuse idiopathic skeletal hyperostosis were at the C2-3 and C6-7, T1 level and resulted in anterior displacement of the pharynx and the trachea respectively.

  12. 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.

  13. Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation

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    Ryan J. Delahanty

    2016-12-01

    Full Text Available Reduced ocular pigmentation is common in Angelman syndrome (AS and Prader-Willi syndrome (PWS and is long thought to be caused by OCA2 deletion. GABRB3 is located in the 15q11-13 region flanked by UBE3A, GABRA5, GABRG3, and OCA2. Mutations in GABRB3 have frequently been associated with epilepsy and autism, consistent with its role in neurodevelopment. We report here a robust phenotype in the mouse in which deletion of Gabrb3 alone causes nearly complete loss of retinal pigmentation due to atrophied melanosomes, as evidenced by electron microscopy. Using exome and RNA sequencing, we confirmed that only the Gabrb3 gene was disrupted while the Oca2 gene was intact. However, mRNA abundance of Oca2 and other genes adjacent to Gabrb3 is substantially reduced in Gabrb3−/− mice, suggesting complex transcriptional regulation in this region. These results suggest that impairment in GABRB3 downregulates OCA2 and indirectly causes ocular hypopigmentation and visual defects in AS and PWS.

  14. Mutations affecting GABAergic signaling in seizures and epilepsy

    Science.gov (United States)

    Galanopoulou, Aristea S.

    2010-01-01

    The causes of epilepsies and epileptic seizures are multifactorial. Genetic predisposition may contribute in certain types of epilepsies and seizures, whether idiopathic or symptomatic of genetic origin. Although these are not very common, they have offered a unique opportunity to investigate the molecular mechanisms underlying epileptogenesis and ictogenesis. Among the implicated gene mutations, a number of GABAA receptor subunit mutations have been recently identified that contribute to several idiopathic epilepsies, febrile seizures, and rarely to certain types of symptomatic epilepsies, like the severe myoclonic epilepsy of infancy. Deletion of GABAA receptor genes has also been linked to Angelman syndrome. Furthermore, mutations of proteins controlling chloride homeostasis, which indirectly defines the functional consequences of GABAA signaling, have been identified. These include the chloride channel 2 (CLCN2) and the potassium chloride cotransporter KCC3. The pathogenic role of CLCN2 mutations has not been clearly demonstrated and may represent either susceptibility genes or, in certain cases, innocuous polymorphisms. KCC3 mutations have been associated with hereditary motor and sensory polyneuropathy with corpus callosum agenesis (Andermann syndrome) that often manifests with epileptic seizures. This review summarizes the recent progress in the genetic linkages of epilepsies and seizures to the above genes and discusses potential pathogenic mechanisms that contribute to the age, sex, and conditional expression of these seizures in carriers of these mutations. PMID:20352446

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

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    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

  16. Idiopathic systemic granulomatous pathology causing sudden death due to myocarditis: A rare case report

    Directory of Open Access Journals (Sweden)

    Harpal Singh

    2015-01-01

    Full Text Available Idiopathic granulomatous myocarditis is extremely rare, particularly since the introduction of drugs effective against tuberculosis (TB, viruses, fungi and the effective treatment of sarcoidosis. Here is a case of a 65-year-old female prisoner having history of sudden collapse and ultimately death. Autopsy findings of various viscera on histopathological examination show granulomatous pathology, that is, in spleen, liver and in the left ventricular wall of heart. Ziehl-Neelsen staining of the sections show the absence of acid fast bacilli, negative for fungal staining as most of the granulomas are noncaseating type with presence of giant cells having no asteroid body and Schuamann body, real-time polymerase chain reaction for TB is negative. Idiopathic giant cell myocarditis is a disease of relatively young adults, that is, between 3 rd and 4 th decade of life. So, this case is strongly considered to be a case of sudden death due to myocarditis as a result of idiopathic systemic granulomatous pathology, a rare case in in literature.

  17. The role of SCL2A1 in Early Onset and Childhood Absence Epilepsies

    DEFF Research Database (Denmark)

    Brusgaard, Klaus

    Introduction: Early onset absence epilepsy (EOAE) constitutes an idiopathic generalized epilepsy syndrome with typical absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter of the blood-brain barrier (GLUT-1), account for approximately 10% of EOAE......>C) leading to an amino acid exchange (336Leu>Val), the family history was unremarkable. The other EOAE patient with a very early onset of a severe epilepsy phenotype and movement disorder had a base exchange at position c.1189C>T causing a stop codon (p.Q397X) in exon 9. Familial GTCS were reported in his...

  18. 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.

  19. Correlation analysis between parental rearing and behavioral problems in children with idiopathic epilepsy%父母教养方式与特发性癫痫儿童行为问题的相关性分析

    Institute of Scientific and Technical Information of China (English)

    孙悦; 周农

    2013-01-01

    目的 探讨特发性癫痫儿童行为问题及其与父母教养方式的相关性.方法 选取42例特发性癫痫儿童和34例性别、年龄、教育程度相匹配的正常儿童为研究对象,应用Achenbach儿童行为量表(CBCL)和父母教养方式评价量表(EMBU)进行评定,对其行为问题结果 进行对比,并就父母教养方式与儿童行为问题的相关性进行分析.结果 特发性癫痫儿童的行为异常检出率(76.19%)高于正常儿童(26.47%,P<0.01);癫痫儿童父母惩罚严厉(P<0.01)、父母拒绝否认(P<0.05)、母干涉保护(P<0.05)显著高于正常儿童父母;相关性分析显示父母教养方式中的母拒绝否认因子与特发性癫痫儿童行为问题呈正相关(r=0.46,P<0.01).结论 特发性癫痫儿童存在较多的行为问题,其父母多采用限制性教育方式,其中母亲拒绝否认的教养方式与特发性癫痫儿童行为问题相关.%Objective To explore the correlation between parental rearing patterns and behavioral problems in children with idiopathic epilepsy. Methods Totally 42 children with idiopathic epilepsy and 34 normal controls that match the gender, age, education level were inquired and assessed with Achenbach ' s child behavior checklist ( CBCL ) and Egma minnen av bardndosnauppforstran ( EMBU ). The results were compared and the regression analyze was comformed. Results The ratio of the abnormal behavior in children with idiopathic epilepsy was 76. 19% , which was significantly higher than the normal controls ( 26.47% , P < 0. 01 ). In study group, parental punishment ( P < 0. 01 ), parental denial ( P < 0. 05 ), maternal interfere ( P < 0. 05 ) scores were higher than normal controls. Correlation analysis revealed a positive correlation between the maternal denial and behavioral disorders ( r = 0. 46,P <0. 01 ). Conclusion The children with idiopathic epilepsy have the higher frequency in behavioral disorders, and their parental rearing patterns are more

  20. Idiopathic gingival fibromatosis

    National Research Council Canada - National Science Library

    Dani, Nitin Hemchandra; Khanna, Dinkar Parveen; Bhatt, Vaibhavi Hitesh; Joshi, Chaitanya Pradeep

    2015-01-01

    Idiopathic gingival fibromatosis (IGF) is a rare hereditary condition characterized by slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva caused by increase in submucosal connective...

  1. Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

    Science.gov (United States)

    Mercimek-Mahmutoglu, Saadet; Horvath, Gabriella A; Coulter-Mackie, Marion; Nelson, Tanya; Waters, Paula J; Sargent, Michael; Struys, Eduard; Jakobs, Cornelis; Stockler-Ipsiroglu, Sylvia; Connolly, Mary B

    2012-05-01

    Pyridoxine-dependent epilepsy (PDE) was first described in 1954. The ALDH7A1 gene mutations resulting in α-aminoadipic semialdehyde dehydrogenase deficiency as a cause of PDE was identified only in 2005. Neonatal epileptic encephalopathy is the presenting feature in >50% of patients with classic PDE. We report the case of a 13-month-old girl with profound neonatal hypoglycemia (0.6 mmol/L; reference range >2.4), lactic acidosis (11 mmol/L; reference range pyridoxine. The diagnosis of α-aminoadipic semialdehyde dehydrogenase deficiency was confirmed based on the elevated urinary α-aminoadipic semialdehyde excretion, compound heterozygosity for a known splice mutation c.834G>A (p.Val278Val), and a novel putative pathogenic missense mutation c.1192G>C (p.Gly398Arg) in the ALDH7A1 gene. She has been seizure-free since 1.5 months of age on treatment with pyridoxine alone. She has motor delay and central hypotonia but normal language and social development at the age of 13 months. This case is the first description of a patient with PDE due to mutations in the ALDH7A1 gene who presented with profound neonatal hypoglycemia and lactic acidosis masquerading as a neonatal-onset gluconeogenesis defect. PDE should be included in the differential diagnosis of hypoglycemia and lactic acidosis in addition to medically refractory neonatal seizures.

  2. GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

    Science.gov (United States)

    Ohba, Chihiro; Shiina, Masaaki; Tohyama, Jun; Haginoya, Kazuhiro; Lerman-Sagie, Tally; Okamoto, Nobuhiko; Blumkin, Lubov; Lev, Dorit; Mukaida, Souichi; Nozaki, Fumihito; Uematsu, Mitsugu; Onuma, Akira; Kodera, Hirofumi; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Miyake, Noriko; Tanaka, Fumiaki; Kato, Mitsuhiro; Ogata, Kazuhiro; Saitsu, Hirotomo; Matsumoto, Naomichi

    2015-06-01

    Recently, de novo mutations in GRIN1 have been identified in patients with nonsyndromic intellectual disability and epileptic encephalopathy. Whole exome sequencing (WES) analysis of patients with genetically unsolved epileptic encephalopathies identified four patients with GRIN1 mutations, allowing us to investigate the phenotypic spectrum of GRIN1 mutations. Eighty-eight patients with unclassified early onset epileptic encephalopathies (EOEEs) with an age of onset stereotypic hand movements were observed in two and three patients, respectively. All the four patients exhibited only nonspecific focal and diffuse epileptiform abnormality, and never showed suppression-burst or hypsarrhythmia during infancy. A de novo mosaic mutation (c.1923G>A) with a mutant allele frequency of 16% (in DNA of blood leukocytes) was detected in one patient. Three mutations were located in the transmembrane domain (3/4, 75%), and one in the extracellular loop near transmembrane helix 1. All the mutations were predicted to impair the function of the NMDA receptor. Clinical features of de novo GRIN1 mutations include infantile involuntary movements, seizures, and hand stereotypies, suggesting that GRIN1 mutations cause encephalopathy resulting in seizures and movement disorders. Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

  3. Partial Epilepsy with Auditory Features

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2004-07-01

    Full Text Available The clinical characteristics of 53 sporadic (S cases of idiopathic partial epilepsy with auditory features (IPEAF were analyzed and compared to previously reported familial (F cases of autosomal dominant partial epilepsy with auditory features (ADPEAF in a study at the University of Bologna, Italy.

  4. Iron Deficiency Anaemia Caused by Nonspecific (Idiopathic Small Bowel Ulceration: An Uncommon Presentation of an Uncommon Disease

    Directory of Open Access Journals (Sweden)

    Gabriele Capurso

    2002-01-01

    Full Text Available Ulcers of the small bowel are rare, and in most cases are due to infections, inflammatory bowel diseases, malignancies or drugs. When none of these causes is recognized, they are classified as ‘nonspecific’ or idiopathic. Such lesions are uncommon, and in most cases present with occlusion. A case of a middle-aged woman with iron deficiency anemia due to occult bleeding, with negative gastroscopy and colonoscopy is presented. The diagnosis of a small bowel pathology resembling Crohn’s disease was made by small bowel follow through and small intestine contrast ultrasonography. An ileal ulcer was identified at surgery, and after resection the patient experienced a stable recovery from the anemia without ulcer recurrence. Neither histology nor clinical or biochemical features suggested the diagnosis of an inflammatory bowel disease. Other possible causes were unlikely and the lesion was therefore diagnosed as idiopathic. This report also focuses on the need and the modality to investigate the small bowel in iron deficiency anemia patients.

  5. CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures.

    Science.gov (United States)

    Trivisano, Marina; Striano, Pasquale; Sartorelli, Jacopo; Giordano, Lucio; Traverso, Monica; Accorsi, Patrizia; Cappelletti, Simona; Claps, Dianela Judith; Vigevano, Federico; Zara, Federico; Specchio, Nicola

    2015-10-01

    Chromodomain helicase DNA-binding protein 2 (CHD2) gene mutations have been reported in patients with myoclonic-atonic epilepsy (MAE), as well as in patients with Lennox-Gastaut, Dravet, and Jeavons syndromes and other epileptic encephalopathies featuring generalized epilepsy and intellectual disability. The aim of this study was to assess the impact of CHD2 mutations in a series of patients with MAE. Twenty patients affected by MAE were included in the study. We analyzed antecedents, age at onset, seizure semiology and frequency, EEG, treatment, and neuropsychological outcome. We sequenced the CHD2 gene with Sanger technology. We identified a CHD2 frameshift mutation in one patient (c.4256del19). He was a 17-year-old boy with no familial history for epilepsy and normal development before epilepsy onset. Epilepsy onset was at 3years and 5months: he presented with myoclonic-atonic seizures, head drops, myoclonic jerks, and absences. Interictal EEGs revealed slow background activity associated with generalized epileptiform abnormalities and photoparoxysmal response. His seizures were highly responsive to valproic acid, and an attempt to withdraw it led to seizure recurrence. Neuropsychological evaluation revealed moderate intellectual disability. Chromodomain-helicase-DNA-binding protein 2 is not the major gene associated with MAE. Conversely, CHD2 could be responsible for a proper phenotype characterized by infantile-onset generalized epilepsy, intellectual disability, and photosensitivity, which might overlap with MAE, Lennox-Gastaut, Dravet, and Jeavons syndromes.

  6. Idiopathic chondrolysis - diagnostic difficulties

    Energy Technology Data Exchange (ETDEWEB)

    Kozlowski, K.; Scougall, J.

    1984-07-01

    Four cases of idiopathic chondrolysis of the hip in three white girls and one Maori girl are reported. The authors stress the causes why a disease with characteristic clinical and radiographic appearances and normal biochemical findings presents diagnostic difficulties. It is suspected that idiopathic chondrolysis is a metabolic disorder of chondrocytes, triggered by environment circumstances in susceptible individuals. Idiopathic chondrolysis is probably one of the most common causes of coxarthrosis in women.

  7. Idiopathic Scoliosis

    OpenAIRE

    2014-01-01

    Introduction. Idiopathic scoliosis is a structural and lateral curvature of the spine for which a currently recognizable cause has not been found and there is no basic evidence for physical and radiographic pathology. Complications. Scoliosis could be a cause of the back pain, deformities, respiratory and cardiology problems. There is a higher risk for decreasing of bone mineral density. Diagnosis and Management. Physical examination, radiography and stereophotogrametry are used in diag...

  8. 特发性全面性癫痫患者的元记忆监测研究%Metamemory monitoring ability in patients with idiopathic generalized epilepsy

    Institute of Scientific and Technical Information of China (English)

    吴娇南; 蒋玉宝; 朱一鸣; 贾婷; 卫玲; 汪凯

    2016-01-01

    Objective To investigate the memory monitoring ability in patients with idiopathic generalized epilepsy (IGE) and explore the mechanism of the memory impairment.Methods The feeling of knowing (FOK) paradigm of episodic memory (EM) and semantic memory (SM) were established and subsequently administered in 31 patients with IGE (IGE group) and 30 healthy controls (HC group) participants who were matched in age,sex and educational level.Results Compared with HC group (feeling of knowing of episodic memory (FOK-EM) FOK accuracy (85.29± 16.84) %;feeling of knowing of sematic memory (FOK-SM) recall (76.61± 18.66) %),the FOK-EM FOK accuracy ((64.03± 22.10) %) and FOK-SM recall ((53.27±26.91) %) in IGE group were significantly decreased(t=-4.215,P<0.01;t=-3.677,P<0.01).The correct judgment and correct recognition of FOK-EM ((51.16±32.93) %) and the false judgment and correct recognition ((21.07±24.38) %) of FOK-EM in the IGE group were significantly different with the HC group (the correct judgment and correct recognition of FOK-EM:(79.34±27.26)% and the false judgment and correct recognition of FOK-EM:(2.45±5.38) %;t=-3.634,P<0.01;t=4.149,P<0.01).Most importantly,the false judgment and correct recognition of FOK-EM were correlated with the Digital Span Test,Vocabulary Fluency Test and the Stroop effect in IGE group (r=-0.309,P<0.05;r=-0.355,P<0.01;r=-0.354,P<0.05;r=0.602,P<0.01).Conclusion The results show that the IGE group made less accurate metamemory monitoring than the HC group by underestimating their memoU performance on FOK-EM,whereas the semantic metamemory monitoring is not impaired in IGE group.More importantly,the impairment of memory monitoring was correlated with the deficit of executive function,indicating that this mechanism can be an influential factor of memory disorder in IGE.It also indicates that the episodic and semantic metamemory monitoring depend on different neural networks.%目的 研究特发性全面性癫痫(idiopathic

  9. 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

  10. Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

    Science.gov (United States)

    Horvath, Gabriella A; Demos, Michelle; Shyr, Casper; Matthews, Allison; Zhang, Linhua; Race, Simone; Stockler-Ipsiroglu, Sylvia; Van Allen, Margot I; Mancarci, Ogan; Toker, Lilah; Pavlidis, Paul; Ross, Colin J; Wasserman, Wyeth W; Trump, Natalie; Heales, Simon; Pope, Simon; Cross, J Helen; van Karnebeek, Clara D M

    2016-01-01

    We describe neurotransmitter abnormalities in two patients with drug-resistant epilepsy resulting from deleterious de novo mutations in sodium channel genes. Whole exome sequencing identified a de novo SCN2A splice-site mutation (c.2379+1G>A, p.Glu717Gly.fs*30) resulting in deletion of exon 14, in a 10-year old male with early onset global developmental delay, intermittent ataxia, autism, hypotonia, epileptic encephalopathy and cerebral/cerebellar atrophy. In the cerebrospinal fluid both homovanillic acid and 5-hydroxyindoleacetic acid were significantly decreased; extensive biochemical and genetic investigations ruled out primary neurotransmitter deficiencies and other known inborn errors of metabolism. In an 8-year old female with an early onset intractable epileptic encephalopathy, developmental regression, and progressive cerebellar atrophy, a previously unreported de novo missense mutation was identified in SCN8A (c.5615G>A; p.Arg1872Gln), affecting a highly conserved residue located in the C-terminal of the Nav1.6 protein. Aside from decreased homovanillic acid and 5-hydroxyindoleacetic acid, 5-methyltetrahydrofolate was also found to be low. We hypothesize that these channelopathies cause abnormal synaptic mono-amine metabolite secretion/uptake via impaired vesicular release and imbalance in electrochemical ion gradients, which in turn aggravate the seizures. Treatment with oral 5-hydroxytryptophan, l-Dopa/Carbidopa, and a dopa agonist resulted in mild improvement of seizure control in the male case, most likely via dopamine and serotonin receptor activated signal transduction and modulation of glutamatergic, GABA-ergic and glycinergic neurotransmission. Neurotransmitter analysis in other sodium channelopathy patients will help validate our findings, potentially yielding novel treatment opportunities. Copyright © 2015 Elsevier Inc. All rights reserved.

  11. 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.

  12. 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

  13. An Unexpected Cause of Knee Pain in a Patient with Juvenile Idiopathic Arthritis: Osteoid Osteoma

    Directory of Open Access Journals (Sweden)

    Mehmet Eroğlu

    2014-06-01

    Full Text Available Patients with chronic diseases may sometimes be underestimated because of the relapsing nature of the disease and thus some newly developing phenomena may be overlooked. In this case we present a 12- year old female patient who was followed up for juvenile idiopathic arthritis and applied to us as an exacerbation of the disease. After initiation of therapy all her complaints but the right knee improved. In the examination of knee, limitation in hip movements was detected. X- ray of the hip revealed a mass neighboring the minor trochanter. On magnetic resonance imaging the mass was detected to be an osteoid osteoma. The patient is free of pain with conservative treatment for tumor after twelve months. It is important to evaluate the patient thoroughly without focusing on a single point and keep in mind that in especially skeletally immature patients hip pain can be felt in the knee.

  14. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.

    Science.gov (United States)

    Gilfillan, Gregor D; Selmer, Kaja K; Roxrud, Ingrid; Smith, Raffaella; Kyllerman, Mårten; Eiklid, Kristin; Kroken, Mette; Mattingsdal, Morten; Egeland, Thore; Stenmark, Harald; Sjøholm, Hans; Server, Andres; Samuelsson, Lena; Christianson, Arnold; Tarpey, Patrick; Whibley, Annabel; Stratton, Michael R; Futreal, P Andrew; Teague, Jon; Edkins, Sarah; Gecz, Jozef; Turner, Gillian; Raymond, F Lucy; Schwartz, Charles; Stevenson, Roger E; Undlien, Dag E; Strømme, Petter

    2008-04-01

    Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na(+)/H(+) exchanger NHE6. Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having Christianson syndrome. Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations.

  15. Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

    Science.gov (United States)

    Wielaender, Franziska; Sarviaho, Riika; James, Fiona; Hytönen, Marjo K.; Cortez, Miguel A.; Kluger, Gerhard; Koskinen, Lotta L. E.; Arumilli, Meharji; Kornberg, Marion; Bathen-Noethen, Andrea; Tipold, Andrea; Rentmeister, Kai; Bhatti, Sofie F. M.; Hülsmeyer, Velia; Boettcher, Irene C.; Tästensen, Carina; Flegel, Thomas; Leeb, Tosso; Matiasek, Kaspar; Fischer, Andrea; Lohi, Hannes

    2017-01-01

    The clinical and electroencephalographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in young Rhodesian Ridgeback dogs (6 wk to 18 mo) are described. A fully penetrant recessive 4-bp deletion was identified in the DIRAS family GTPase 1 (DIRAS1) gene with an altered expression pattern of DIRAS1 protein in the affected brain. This neuronal DIRAS1 gene with a proposed role in cholinergic transmission provides not only a candidate for human myoclonic epilepsy but also insights into the disease etiology, while establishing a spontaneous model for future intervention studies and functional characterization. PMID:28223533

  16. [Surgical treatment of resistant epilepsy, caused by hemispherical dysgenesis--case report].

    Science.gov (United States)

    Hegyi, Márta; Siegler, Zsuzsa; Barsi, Péter; Rudas, Gábor; Lengyel, Zsolt; Szakáll, Szabolcs; Bognar, László; Kozak, Lajos Rudolf; Neuwirth, Magdolna; Fogarasi, András

    2009-05-30

    A part of patients with the therapy resistant epilepsy can be cured by surgical interventions. The more concordant the presurgical evaluation data, the better prognosis the patient has postoperatively. In case of discordant examination data, multimodal evaluation or case-specific decision might be successful. We report on a five-year-old boy with bilateral (left-dominated) cortical dysplasia and therapy resistant epilepsy. The ictal EEG did not help to localize the seizure onset zone, semiology had little lateralization value; however, FDG-PET showed left hemispheric hypermetabolism. The child became almost seizure-free and showed improved development after left-sided hemispherotomy.

  17. The attention of children with newly diagnosed idiopathic or cryptogenic epilepsy%新诊断原发性或隐源性癫痫儿童注意功能的研究

    Institute of Scientific and Technical Information of China (English)

    周锐; 董斌; 周农

    2013-01-01

    Objective To study the character of attention in schoolchildren with newly diagnosed idiopathic or cryptogenic epilepsy . Methods A battery of tasks comprised Stroop Word-Color task, Trail making (A and B)and Letter cancellation task. Results There were significant differences in reaction time of color test and in inaccuracy of word test and color -word interference test. But children with epilepsy could not be distinguished from controls in Stroop interference effects ,Trail making and Letter cancellation task. Linear Regression estimated the coefficients of the linear equation ,involving age,gender,education level,duration,age at onset of epilepsy and seizure frequency, and age was the main factor that best predicted the value of the reaction time of word -color test. Conclusions Children with idiopathic or cryptogenic epilepsy have selective attention deficits . And the risk of attention deficits is higher when the patient is younger .%目的 研究原发性或隐源性癫痫儿童注意功能的特点.方法 采用Stroop字色干扰测试、连线测试A、B以及数字划消测试对新诊断原发性或隐源性癫痫儿童注意功能进行评定.结果 新诊断原发性或隐源性癫痫儿童组与正常儿童比较,Stroop测试的读色时间,读字和读字色的错误率存在显著性差异(P0.05).两组儿童连线测试的反应时间、错误步数以及数字划消测试的划消效率无显著性差异(P>0.05).多元线性回归分析发现,在年龄、性别、受教育程度、病程、起病年龄和发作频率等多个变量中,年龄是影响读字色测试反应时间最主要的因素.结论 原发性或隐源性癫痫儿童具有选择性注意损害.年龄越小的患者选择注意受损的可能性大.

  18. SPECT and MRI study in patients with temporal lobe epilepsy caused by hippocampal sclerosis

    Directory of Open Access Journals (Sweden)

    Le GUAN

    2015-11-01

    Full Text Available Objective To analyze the changes of hippocampus blood perfusion and hippocampal volume in patients with temporal lobe epilepsy (TLE caused by hippocampal sclerosis (HS using single-photon emission-computed tomography (SPECT and MRI, so as to explore the effect on localization of epileptogenic focus in TLE patients.  Methods Eighteen TLE patients and 3 healthy controls underwent 99Tcm-ethyl cysteinate dimer (99Tcm-ECD SPECT. Eighteen TLE patients and 21 healthy controls were performed MRI. The relative cerebral blood flow (rCBF and hippocampal volume were calculated and compared between 2 groups. The correlation between rCBF in ipsilateral hippocampus and hippocampal volume of TLE patients was analyzed. Results SPECT showed rCBF in ipsilateral hippocampus [(46.04 ± 7.94 ml/(100 g·min] was significantly decreased compared with contralateral hippocampus in TLE patients [(54.76 ± 9.62 ml/(100 g·min; t = -2.966, P = 0.005] and bilateral hippocampus in healthy controls [(64.87 ± 7.28 ml/(100 g·min; t = -4.824, P = 0.000]. The volume of ipsilateral hippocampus [(1.69 ± 0.39 cm3] was significantly smaller than that of contralateral hippocampus in TLE patients [(2.68 ± 0.41 cm3; t = -7.410, P = 0.000] and bilateral hippocampus in healthy controls [(3.50 ± 0.39 cm3; t = -16.340, P = 0.000]. The rCBF of ipsilateral hippocampus had positive correlation with the volume of corresponding hippocampus in TLE patients (r = 0.394, P = 0.017.  Conclusions Both rCBF and the volume of ipsilateral hippocampus were reduced in patients with TLE caused by HS, and there was positive correlation between the two. It was helpful for preoperative localization of epileptogenic focus to combine SPECT with MRI. DOI: 10.3969/j.issn.1672-6731.2015.11.007

  19. Treatment failure in patients with epilepsy -Exploring causes of ineffectiveness and adverse effects

    NARCIS (Netherlands)

    Gombert-Handoko, K.B.

    2009-01-01

    Epilepsy is a neurological disorder that leads to seizures affecting a variety of mental and physical functions. Antiepileptic drugs are the mainstay of treatment. However, in one third of patients treatment fails: patients keep getting seizures or experience bothersome side effects. In this thesis

  20. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

    DEFF Research Database (Denmark)

    Lal, Dennis; Reinthaler, Eva M; Dejanovic, Borislav

    2016-01-01

    for epilepsy of small effect size based on the enrichment in patients (P = 6.60 x 10-4; OR = 0.32, fishers exact test), previous functional studies but incomplete penetrance. Thus, incorporation of previous studies in genetic counseling of SCN1A sequencing results is challenging and may produce incorrect...

  1. Disruption of Fgf13 Causes Synaptic Excitatory–Inhibitory Imbalance and Genetic Epilepsy and Febrile Seizures Plus

    Science.gov (United States)

    Puranam, Ram S.; He, Xiao Ping; Yao, Lijun; Le, Tri; Jang, Wonjo; Rehder, Catherine W.; Lewis, Darrell V.

    2015-01-01

    We identified a family in which a translocation between chromosomes X and 14 was associated with cognitive impairment and a complex genetic disorder termed “Genetic Epilepsy and Febrile Seizures Plus” (GEFS+). We demonstrate that the breakpoint on the X chromosome disrupted a gene that encodes an auxiliary protein of voltage-gated Na+ channels, fibroblast growth factor 13 (Fgf13). Female mice in which one Fgf13 allele was deleted exhibited hyperthermia-induced seizures and epilepsy. Anatomic studies revealed expression of Fgf13 mRNA in both excitatory and inhibitory neurons of hippocampus. Electrophysiological recordings revealed decreased inhibitory and increased excitatory synaptic inputs in hippocampal neurons of Fgf13 mutants. We speculate that reduced expression of Fgf13 impairs excitability of inhibitory interneurons, resulting in enhanced excitability within local circuits of hippocampus and the clinical phenotype of epilepsy. These findings reveal a novel cause of this syndrome and underscore the powerful role of FGF13 in control of neuronal excitability. PMID:26063919

  2. Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy.

    Science.gov (United States)

    Di Bonaventura, Carlo; Operto, Francesca F; Busolin, Giorgia; Egeo, Gabriella; D'Aniello, Alfredo; Vitello, Libero; Smaniotto, Gessica; Furlan, Sandra; Diani, Erica; Michelucci, Roberto; Giallonardo, Anna Teresa; Coppola, Giangennaro; Nobile, Carlo

    2011-07-01

    To describe the clinical and genetic findings of four families with autosomal dominant lateral temporal epilepsy. A personal and family history was obtained from each affected and unaffected subject along with a physical and neurologic examination. Routine electroencephalography and magnetic resonance imaging (MRI) studies were performed in almost all patients. DNAs from family members were screened for LGI1 mutations. The effects of mutations on Lgi1 protein secretion were determined in transfected culture cells. The four families included a total of 11 patients (two deceased), six of whom had lateral temporal epilepsy with auditory aura. Age at onset was in the second decade of life; seizures were well controlled by antiepileptic treatment and MRI studies were normal. We found two pathogenic LGI1 mutations with uncommonly low penetrance: the R136W mutation, previously detected in a sporadic case with telephone-induced partial seizures, gave rise to the epileptic phenotype in three of nine mutation carriers in one family; the novel C179R mutation caused epilepsy in an isolated patient from a family where the mutation segregated. Another novel pathogenic mutation, I122T, and a nonsynonymous variant, I359V, were found in the two other families. Protein secretion tests showed that the R136W and I122T mutations inhibited secretion of the mutant proteins, whereas I359V had no effect on protein secretion; C179R was not tested, because of its predictable effect on protein folding. These findings suggest that some LGI1 mutations may have a weak penetrance in families with complex inheritance pattern, or isolated patients, and that the protein secretion test, together with other predictive criteria, may help recognize pathogenic LGI1 mutations. Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.

  3. 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.)

  4. NEW ASPECTS OF THE PATHOGENESIS OF EPILEPSY

    Directory of Open Access Journals (Sweden)

    Rano Bahodirovna Azizova

    2014-11-01

    Full Text Available We studied 52 patients with epilepsy with the average age of 36.2±14.7 years old. Of them, 38 patients had idiopathic epilepsy, 14 patients had symptomatic epilepsy. Our study has shown that epilepsy is accompanied with increased levels of autoantibodies to NF-200, GFAP, S100, MBP, DNA, GABA and dopamine receptors, testifying to the important role of autoimmune disturbances in the pathogenesis of epilepsy. More severe attacks are accompanied by worsening of neuroimmune dysregulation. The degree and duration of autoimmune process can serve additional diagnostic and prognostic criteria for epilepsies.

  5. 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.

  6. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

    Science.gov (United States)

    Rehman, Atteeq U; Santos-Cortez, Regie Lyn P; Morell, Robert J; Drummond, Meghan C; Ito, Taku; Lee, Kwanghyuk; Khan, Asma A; Basra, Muhammad Asim R; Wasif, Naveed; Ayub, Muhammad; Ali, Rana A; Raza, Syed I; Nickerson, Deborah A; Shendure, Jay; Bamshad, Michael; Riazuddin, Saima; Billington, Neil; Khan, Shaheen N; Friedman, Penelope L; Griffith, Andrew J; Ahmad, Wasim; Riazuddin, Sheikh; Leal, Suzanne M; Friedman, Thomas B

    2014-01-01

    Inherited deafness is clinically and genetically heterogeneous. We recently mapped DFNB86, a locus associated with nonsyndromic deafness, to chromosome 16p. In this study, whole-exome sequencing was performed with genomic DNA from affected individuals from three large consanguineous families in which markers linked to DFNB86 segregate with profound deafness. Analyses of these data revealed homozygous mutation c.208G>T (p.Asp70Tyr) or c.878G>C (p.Arg293Pro) in TBC1D24 as the underlying cause of deafness in the three families. Sanger sequence analysis of TBC1D24 in an additional large family in which deafness segregates with DFNB86 identified the c.208G>T (p.Asp70Tyr) substitution. These mutations affect TBC1D24 amino acid residues that are conserved in orthologs ranging from fruit fly to human. Neither variant was observed in databases of single-nucleotide variants or in 634 chromosomes from ethnically matched control subjects. TBC1D24 in the mouse inner ear was immunolocalized predominantly to spiral ganglion neurons, indicating that DFNB86 deafness might be an auditory neuropathy spectrum disorder. Previously, six recessive mutations in TBC1D24 were reported to cause seizures (hearing loss was not reported) ranging in severity from epilepsy with otherwise normal development to epileptic encephalopathy resulting in childhood death. Two of our four families in which deafness segregates with mutant alleles of TBC1D24 were available for neurological examination. Cosegregation of epilepsy and deafness was not observed in these two families. Although the causal relationship between genotype and phenotype is not presently understood, our findings, combined with published data, indicate that recessive alleles of TBC1D24 can cause either epilepsy or nonsyndromic deafness.

  7. 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.

  8. NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy

    DEFF Research Database (Denmark)

    Svenstrup, Kirsten; Møller, R S; Christensen, Jacob

    2011-01-01

    or signs are found. Mutations in the NIPA1 gene have been reported to cause spastic paraplegia type 6 (SPG6) in 10 families. SPG6 is a rare form of autosomal dominantly inherited HSP associated with a pure phenotype; however, in one complex SPG6 family, idiopathic generalized epilepsy (IGE) has been...... reported missense mutation c.316G>A, p.Gly106Arg, was identified in a complex HSP patient with spastic dysarthria, facial dystonia, atrophy of the small hand muscles, upper limb spasticity, and presumably IGE. The epilepsy co-segregated with HSP in the family. Conclusion: NIPA1 mutations were rare in our...... population of patients with HSP, but can be found in patients with complex HSP. Epilepsy might be more common in SPG6 than in other forms of HSP because of a genetic risk factor closely linked to NIPA1....

  9. ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

    Science.gov (United States)

    Filosto, Massimiliano; Aureli, Massimo; Castellotti, Barbara; Rinaldi, Fabrizio; Schiumarini, Domitilla; Valsecchi, Manuela; Lualdi, Susanna; Mazzotti, Raffaella; Pensato, Viviana; Rota, Silvia; Gellera, Cinzia; Filocamo, Mirella; Padovani, Alessandro

    2016-11-01

    ASAH1 gene encodes for acid ceramidase that is involved in the degradation of ceramide into sphingosine and free fatty acids within lysosomes. ASAH1 variants cause both the severe and early-onset Farber disease and rare cases of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy (SMA-PME), phenotypically characterized by childhood onset of proximal muscle weakness and atrophy due to spinal motor neuron degeneration followed by occurrence of severe and intractable myoclonic seizures and death in the teenage years. We studied two subjects, a 30-year-old pregnant woman and her 17-year-old sister, affected with a very slowly progressive non-5q SMA since childhood. No history of seizures or myoclonus has been reported and EEG was unremarkable. The molecular study of ASAH1 gene showed the presence of the homozygote nucleotide variation c.124A>G (r.124a>g) that causes the amino acid substitution p.Thr42Ala. Biochemical evaluation of cultured fibroblasts showed both reduction in ceramidase activity and accumulation of ceramide compared with the normal control. This study describes for the first time the association between ASAH1 variants and an adult SMA phenotype with no myoclonic epilepsy nor death in early age, thus expanding the phenotypic spectrum of ASAH1-related SMA. ASAH1 molecular analysis should be considered in the diagnostic testing of non-5q adult SMA patients.

  10. Uncovering Genomic Causes of Co-Morbidity in Epilepsy: Gene-Driven Phenotypic Characterization of Rare Microdeletions

    NARCIS (Netherlands)

    Kasperavičiūtė, D.; Catarino, C.B.; Chinthapalli, K.; Clayton, L.M.S.; Thom, M.; Martinian, L.; Cohen, H.; Adalat, S.; Bockenhauer, D.; Pope, S.A.; Lench, N.; Koltzenburg, M.; Duncan, J.S.; Hammond, P.; Hennekam, R.C.M.; Land, J.M.; Sisodiya, S.M.

    2011-01-01

    Background: Patients with epilepsy often suffer from other important conditions. The existence of such co-morbidities is frequently not recognized and their relationship with epilepsy usually remains unexplained. Methodology/Principal Findings: We describe three patients with common, sporadic,

  11. Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

    DEFF Research Database (Denmark)

    Carvill, Gemma L; McMahon, Jacinta M; Schneider, Amy;

    2015-01-01

    GAT-1, encoded by SLC6A1, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and is responsible for re-uptake of GABA from the synapse. In this study, targeted resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutations...... in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE). We describe two truncations and four missense alterations, all of which most likely lead to loss of function of GAT-1 and thus reduced GABA re-uptake from the synapse. These individuals share many...

  12. 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: ...

  13. Functional Loss of Bmsei Causes Thermosensitive Epilepsy in Contractile Mutant Silkworm, Bombyx mori

    Science.gov (United States)

    Nie, Hongyi; Cheng, Tingcai; Huang, Xiaofeng; Zhou, Mengting; Zhang, Yinxia; Dai, Fangyin; Mita, Kazuei; Xia, Qingyou; Liu, Chun

    2015-07-01

    The thermoprotective mechanisms of insects remain largely unknown. We reported the Bombyx mori contractile (cot) behavioral mutant with thermo-sensitive seizures phenotype. At elevated temperatures, the cot mutant exhibit seizures associated with strong contractions, rolling, vomiting, and a temporary lack of movement. We narrowed a region containing cot to ~268 kb by positional cloning and identified the mutant gene as Bmsei which encoded a potassium channel protein. Bmsei was present in both the cell membrane and cytoplasm in wild-type ganglia but faint in cot. Furthermore, Bmsei was markedly decreased upon high temperature treatment in cot mutant. With the RNAi method and injecting potassium channel blockers, the wild type silkworm was induced the cot phenotype. These results demonstrated that Bmsei was responsible for the cot mutant phenotype and played an important role in thermoprotection in silkworm. Meanwhile, comparative proteomic approach was used to investigate the proteomic differences. The results showed that the protein of Hsp-1 and Tn1 were significantly decreased and increased on protein level in cot mutant after thermo-stimulus, respectively. Our data provide insights into the mechanism of thermoprotection in insect. As cot phenotype closely resembles human epilepsy, cot might be a potential model for the mechanism of epilepsy in future.

  14. Clinical risk factors associated with anti-epileptic drug responsiveness in canine epilepsy.

    Directory of Open Access Journals (Sweden)

    Rowena M A Packer

    Full Text Available The nature and occurrence of remission, and conversely, pharmacoresistance following epilepsy treatment is still not fully understood in human or veterinary medicine. As such, predicting which patients will have good or poor treatment outcomes is imprecise, impeding patient management. In the present study, we use a naturally occurring animal model of pharmacoresistant epilepsy to investigate clinical risk factors associated with treatment outcome. Dogs with idiopathic epilepsy, for which no underlying cause was identified, were treated at a canine epilepsy clinic and monitored following discharge from a small animal referral hospital. Clinical data was gained via standardised owner questionnaires and longitudinal follow up data was gained via telephone interview with the dogs' owners. At follow up, 14% of treated dogs were in seizure-free remission. Dogs that did not achieve remission were more likely to be male, and to have previously experienced cluster seizures. Seizure frequency or the total number of seizures prior to treatment were not significant predictors of pharmacoresistance, demonstrating that seizure density, that is, the temporal pattern of seizure activity, is a more influential predictor of pharmacoresistance. These results are in line with clinical studies of human epilepsy, and experimental rodent models of epilepsy, that patients experiencing episodes of high seizure density (cluster seizures, not just a high seizure frequency pre-treatment, are at an increased risk of drug-refractoriness. These data provide further evidence that the dog could be a useful naturally occurring epilepsy model in the study of pharmacoresistant epilepsy.

  15. 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.

  16. Long-term ascorbic acid administration causes anticonvulsant activity during moderate and long-duration swimming exercise in experimental epilepsy.

    Science.gov (United States)

    Tutkun, Erkut; Arslan, Gokhan; Soslu, Recep; Ayyildiz, Mustafa; Agar, Erdal

    2015-01-01

    The benefits of regular exercise on brain health are undeniable. Long-term exercise increases the production of reactive oxygen species in brain. Therefore, athletes often consume antioxidant supplements to remedy exercise-related damage and fatigue during exercise. The aim of this study is to evaluate the role of ascorbic acid in the effects of different intensities of swimming exercise on the brain susceptibility to experimental epilepsy in rats. Ascorbic acid was administered intraperitoneally (ip) during three different swimming exercise programme for 90 days (15 min, 30 min, 90 min/day). The anticonvulsant activity regarding the frequency of epileptiform activity appeared in the 80 min after 500 units intracortical penicillin injection in 30 min and 90 min/day exercise groups. The administration of ascorbic acid (100 mg/kg, ip) did not alter the anticonvulsant properties seen in the in short-duration (15 min/day) swimming exercise group. The amplitude of epileptiform activity also became significant in the 110 and 120 min after penicillin injection in the moderate (30 min/day) and long duration (60 min/day) groups, respectively. The results of the present study provide electrophysiologic evidence that long-term administration of ascorbic acid causes anticonvulsant activities in the moderate and long-duration swimming exercise. Antioxidant supplementation such as ascorbic acid might be suggested for moderate and long-duration swimming exercise in epilepsy.

  17. Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations.

    Science.gov (United States)

    Nascimento, Fábio A; Andrade, Danielle M

    2016-09-01

    Progressive myoclonus epilepsy (PME) is a distinct group of seizure disorders characterized by gradual neurological decline with ataxia, myoclonus and recurring seizures. There are several forms of PME, among which the most recently described is MEAK - myoclonus epilepsy and ataxia due to potassium channel mutation. This particular subtype is caused by a recurrent de novo heterozygous mutation (c.959G>A, p.Arg320His) in the KCNC1 gene, which maps to chromosome 11 and encodes for the Kv3.1 protein (a subunit of the Kv3 subfamily of voltage-gated potassium channels). Loss of Kv3 function disrupts the firing properties of fast-spiking neurons, affects neurotransmitter release and induces cell death. Specifically regarding Kv3.1 malfunctioning, the most affected neurons include inhibitory GABAergic interneurons and cerebellar neurons. Impairment of the former cells is believed to contribute to myoclonus and seizures, whereas dysfunction of the latter to ataxia and tremor. Phenotypically, MEAK patients generally have a normal early development. At the age of 6 to 14 years, they present with myoclonus, which tends to progressively worsen with time. Tonic-clonic seizures may or may not be present, and some patients develop mild cognitive impairment following seizure onset. Typical electroencephalographic features comprise generalized epileptiform discharges and, in some cases, photosensitivity. Brain imaging is either normal or shows cerebellar atrophy. The identification of MEAK has both expanded the phenotypic and genotypic spectra of PME and established an emerging role for de novo mutations in PME.

  18. Investigation of GRIN2A in common epilepsy phenotypes

    DEFF Research Database (Denmark)

    Lal, Dennis; Steinbrücker, Sandra; Schubert, Julian

    2015-01-01

    mutations by investigating patients with the two most common epilepsy syndromes: (i) idiopathic generalized epilepsy (IGE) and (ii) temporal lobe epilepsy (TLE). Whole exome sequencing data of 238 patients with IGE as well as Sanger sequencing of 84 patients with TLE were evaluated for GRIN2A sequence...

  19. 原发性癫痫90例睡眠结构及脑电事件分析%Analysis on sleep structures and EEG events in 90 patients with idiopathic epilepsy

    Institute of Scientific and Technical Information of China (English)

    李桂花; 张晓馨; 徐江涛; 杨俊; 宋永斌; 梁晓慧; 于春芳; 张立群; 吕芸

    2011-01-01

    目的 探讨原发性癫痫患者睡眠结构及脑电事件特点.方法 对90例符合原发性癫痫诊断标准的患者进行多导睡眠图(PSG)检查,分析患者的睡眠结构、夜间激醒事件及异常脑电事件.结果本组病人PSG睡眠结构特点表现为患者睡眠阶段的转换增加,睡眠片断及睡眠效率减低,睡眠质量低下,结构紊乱.REM期比例减少例数76例(占84.44%),REM潜伏期增加例数70例(占77.78%),Ⅰ+Ⅱ期比例增加例数64例(占71.11%),Ⅲ+Ⅳ比例减少例数44例(占48.89%),入睡潜伏期增加例数为41例(占45.56%).整夜激醒次数为(103.20±131.76)次,激醒次数增多者占88.89%.睡眠脑电图(EEG)监测结果显示有异常放电者占38.30%, 尤其以浅睡期发放显著.结论 原发性癫痫患者存在睡眠结构紊乱.%Objective To investigate the sleep structures and characteristics of EEG events in patients with idiopathic epilepsy.Methods The sleep architectures wake up events at night and abnormal EEG events were analyzed in 90 patients who met the diagnostic criteria of idiopathic epilepsy by polysomnography ( PSG ) examination. Results The sleep structures of this group of patients in PSG characterized as increased sleep stages conversion, reduced sleep fragments and sleep efficiency, poor sleep quality and disorder sleep structures. 76( 84.44% ) cases were reduced in REM stage,70 ( 77.78% ) cases were increased in REM latency, 64 ( 71.11% ) cases were increased in Ⅰ + Ⅱ stages, 44 ( 48.89% ) cases were reduced in Ⅲ + Ⅳ stages, 41 ( 45.56% ) cases were increased in sleep latency. Night waking times were( 103.20 ± 131.76 ). There were 88.89% patients whose night waking tine in creased. Sleep electroencephalogram ( EEG ) monitoring showed abnormal discharge accounted for 38.30%, especially in light sleep stage. Conclusion The patients with idiopathic epilepsy have disturbance of sleep structure.

  20. Bilateral idiopathic calf muscle hypertrophy: an exceptional cause of unsightly leg curvature.

    Science.gov (United States)

    Herlin, C; Chaput, B; Rivier, F; Doucet, J C; Bigorre, M; Captier, G

    2015-04-01

    The authors present the management of a young female patient who presented with longstanding bilateral calf muscle hypertrophy, with no known cause. Taking into account the patient's wishes and the fact that the hypertrophy was mainly located in the posteromedial compartment, we chose to carry out a subtotal bilateral resection of medial gastrocnemius muscles. This procedure was performed with an harmonic scalpel, permitting a excellent cosmetic result while avoiding complications or functional impairment. After a reviewing of the commonly used techniques, the authors discuss the chosen surgical approach taking into account its clinical particularity. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  1. Juvenile idiopathic arthritis

    Science.gov (United States)

    Juvenile rheumatoid arthritis (JRA); Juvenile chronic polyarthritis; Still disease; Juvenile spondyloarthritis ... The cause of juvenile idiopathic arthritis (JIA) is not known. It ... illness . This means the body attacks and destroys healthy body ...

  2. The WAG/Rij strain: A genetic animal model of absence epilepsy with comorbidity of depressiony

    NARCIS (Netherlands)

    Sarkisova, K.Y.; Luijtelaar, E.L.J.M. van

    2011-01-01

    A great number of clinical observations show a relationship between epilepsy and depression. Idiopathic generalized epilepsy, including absence epilepsy, has a genetic basis. The review provides evidence that WAG/Rij rats can be regarded as a valid genetic animal model of absence epilepsy with comor

  3. 45例Panayiotopoulos综合征的临床特征及脑电图分析%Clinical analysis and electroencephalography features in idiopathic childhood occipital epilepsy of Panayiotopoulos

    Institute of Scientific and Technical Information of China (English)

    吕娟; 王江涛; 杨诺; 梁东; 陈银波

    2014-01-01

    目的 探讨45例Panayiotopoulos综合征的脑电图及临床特征、预后情况.方法 收集我院小儿神经科2010年6月~2013年6月Panayiotopoulos综合征45例临床资料,并进行分析.结果 其中33例以发作性呕吐为主要症状就诊.20例患儿癫痫发作持续半小时以上,28例发作开始于睡眠期.28例患儿发作间期脑电图为枕区或后头部棘波、棘慢波发放.32例患儿一种药物可有效控制发作.结论 Panayiotopoulos综合征临床表现以自主神经发作及自主神经持续状态多见,发作间期脑电图大部分为后头部功能性尖波、尖慢波发放,抗癫痫药控制良好,预后好.%Objective To investigate the clinical electroencephalography features and prognosis in children with idiopathic occipital epilepsy of Panayiotopoulos.Methods A retrospective review of 45 children patients who are diagnosed as idiopathic occipital epilepsy of Panayiotopoulos from June 2010 to June 2013 was conducted.Results 33 patients starts with ictal emetic.Nearly half of these seizures last more than 30 min,62.2% of seizures start in sleep.Interictal EEG(62.2%)showed high-amplitude sharp,spike and wave discharge on the unilateral or bilateral occipital and posterior regions.Most of them were treated monotherapy.Conclusion Panayiotopoulos syndrome is mainly autonomic seizures and autonomic status epilepticus.Most of EEG reveals functional,mainly multi-focal,sharp,sharp-slow wave complexes.Spikes often occurs at posterior locations.The outcome of treatment with antiepileptic drugs is always good,and the prognosis is mostly favorable.

  4. Idiopathic transient osteoporosis of the talus: a cause for unexplained foot and ankle pain.

    Science.gov (United States)

    Limaye, Rajiv; Tripathy, Sujit Kumar; Pathare, Sanjay; Saeed, Kamran

    2012-01-01

    A 53-year-old woman was investigated for several neoplastic, inflammatory, and infective conditions for her left foot, and ankle pain associated with swelling, which she developed unexpectedly without history of trauma or infection. Gross osteopenia in the talus raised the possibilities of several differential diagnoses, but a magnetic resonance imaging scan showed diffuse bone marrow edema in the talus. With negative infective and inflammatory markers, the condition was ultimately labeled as "transient osteoporosis." She was reassured and followed up regularly. At the end of 12 months, she was completely asymptomatic, and her radiograph and magnetic resonance images showed significant improvement, with a normal-appearing talus and ankle joint, and there was complete resolution of bone marrow edema. Although "transient osteoporosis" of the foot is an uncommon condition, clinicians should be aware of this. Unexplained foot pain, with osteopenic bone and diffuse bone marrow edema on magnetic resonance imaging scan, is a feature of this condition. However, the diagnosis is established once other causes are excluded. The condition is self-limiting, and watchful expectancy of a normal recovery is the mainstay of treatment. Copyright © 2012 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

  5. Review of idiopathic pancreatitis

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Recent advances in understanding of pancreatitis and advances in technology have uncovered the veils of idiopathic pancreatitis to a point where a thorough history and judicious use of diagnostic techniques elucidate the cause in over 80% of cases. This review examines the multitude of etiologies of what were once labeled idiopathic pancreatitis and provides the current evidence on each. This review begins with a background review of the current epidemiology of idiopathic pancreatitis prior to discussion of various etiologies. Etiologies of medications, infections, toxins,autoimmune disorders, vascular causes, and anatomic and functional causes are explored in detail. We conclude with management of true idiopathic pancreatitis and a summary of the various etiologic agents. Throughout this review, areas of controversies are highlighted.

  6. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

    NARCIS (Netherlands)

    Hardies, Katia; de Kovel, Carolien G F; Weckhuysen, Sarah; Asselbergh, Bob; Geuens, Thomas; Deconinck, Tine; Azmi, Abdelkrim; May, Patrick; Brilstra, Eva; Becker, Felicitas; Barisic, Nina; Craiu, Dana; Braun, Kees P J; Lal, Dennis; Thiele, Holger; Schubert, Julian; Weber, Yvonne; van 't Slot, Ruben; Nürnberg, Peter; Balling, Rudi; Timmerman, Vincent; Lerche, Holger; Maudsley, Stuart; Helbig, Ingo; Suls, Arvid; Koeleman, Bobby P C; De Jonghe, Peter

    2015-01-01

    The epileptic encephalopathies are a clinically and aetiologically heterogeneous subgroup of epilepsy syndromes. Most epileptic encephalopathies have a genetic cause and patients are often found to carry a heterozygous de novo mutation in one of the genes associated with the disease entity. Occasion

  7. Idiopathic Scoliosis

    Directory of Open Access Journals (Sweden)

    Jens Ivar Brox

    2014-07-01

    Full Text Available Idiopathic scoliosis (IS is a lifetime condition and is defined as a structural, lateral rotated curvature of the spine of >10° on standing coronal plane radiographs. It should be distinguished from other causes of scoliosis. It can be classified as infantile, juvenile, and adolescent according to age. As a rule of thumb, about 80% of all curves are idiopathic, right convex thoracic, and present in otherwise healthy girls at the beginning of puberty. A family member most commonly detects scoliosis. The structural asymmetry of the spine is best observed by asking the patient to bend forward. IS is often seen in more than one member of a family, but the aetiology remains unknown. Multiple genes are likely to be involved with incomplete penetrance and variable expressivity. Early detection by screening allows for monitoring curve progression and timely initiation of bracing, but school screening is controversial and practises vary worldwide. Most patients have minor scoliosis and treatment is generally not recommended for patients with curves 45°. Scoliosis surgery was not successful until the introduction of Harrington’s instrumentation in the 1960s. Modern instrumentation has evolved from the Cotrel-Dubousset system in the 1980s, and a variety of methods are available today. Although scoliosis may be a burden, long-term studies suggest that a good quality of life is maintained in most patients.

  8. The social and economic consequences of epilepsy

    DEFF Research Database (Denmark)

    Jennum, Poul; Gyllenborg, Jesper; Kjellberg, Jakob

    2011-01-01

    Epilepsy causes a significant burden to patients and to society. We aimed to calculate the factual excess in direct and indirect costs associated with epilepsy.......Epilepsy causes a significant burden to patients and to society. We aimed to calculate the factual excess in direct and indirect costs associated with epilepsy....

  9. The social and economic consequences of epilepsy

    DEFF Research Database (Denmark)

    Jennum, Poul; Gyllenborg, Jesper; Kjellberg, Jakob

    2011-01-01

    Epilepsy causes a significant burden to patients and to society. We aimed to calculate the factual excess in direct and indirect costs associated with epilepsy.......Epilepsy causes a significant burden to patients and to society. We aimed to calculate the factual excess in direct and indirect costs associated with epilepsy....

  10. Abdominal epilepsy and foreign body in the abdomen--dilemma in diagnosis of abdominal pain.

    Science.gov (United States)

    Topno, Noor; Gopasetty, Mahesh S; Kudva, Annappa; B, Lokesh

    2005-12-31

    There are many medical causes of abdominal pain; abdominal epilepsy is one of the rarer causes. It is a form of temporal lobe epilepsy presenting with abdominal aura. Temporal lobe epilepsy is often idiopathic, however it may be associated with mesial temporal lobe sclerosis, dysembryoplastic neuroepithelial tumors and other benign tumors, arterio-venous malformations, gliomas, neuronal migration defects or gliotic damage as a result of encephalitis. When associated with anatomical abnormality, abdominal epilepsy is difficult to control with medication alone. In such cases, appropriate neurosurgery can provide a cure or, at least, make this condition easier to treat with medication. Once all known intra-abdominal causes have been ruled out, many cases of abdominal pain are dubbed as functional. If clinicians are not aware of abdominal epilepsy, this diagnosis is easily missed, resulting in inappropriate treatment. We present a case report of a middle aged woman presenting with abdominal pain and episodes of unconsciousness. On evaluation she was found to have an intra-abdominal foreign body (needle). Nevertheless, the presence of this entity was insufficient to explain her episodes of unconsciousness. On detailed analysis of her medical history and after appropriate investigations, she was diagnosed with temporal lobe epilepsy which was treated with appropriate medications, and which resulted in her pain being relieved.

  11. Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.

    Science.gov (United States)

    Hallmann, Kerstin; Kudin, Alexei P; Zsurka, Gábor; Kornblum, Cornelia; Reimann, Jens; Stüve, Burkhard; Waltz, Stephan; Hattingen, Elke; Thiele, Holger; Nürnberg, Peter; Rüb, Cornelia; Voos, Wolfgang; Kopatz, Jens; Neumann, Harald; Kunz, Wolfram S

    2016-02-01

    Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is usually caused by mutations in proteins required for assembly of the complex. Mutations in nuclear-encoded structural subunits are very rare. In a patient with Leigh-like syndrome presenting with leukodystrophy and severe epilepsy, we identified a homozygous splice site mutation in COX8A, which codes for the ubiquitously expressed isoform of subunit VIII, the smallest nuclear-encoded subunit of complex IV. The mutation, affecting the last nucleotide of intron 1, leads to aberrant splicing, a frame-shift in the highly conserved exon 2, and decreased amount of the COX8A transcript. The loss of the wild-type COX8A protein severely impairs the stability of the entire cytochrome c oxidase enzyme complex and manifests in isolated complex IV deficiency in skeletal muscle and fibroblasts, similar to the frequent c.845_846delCT mutation in the assembly factor SURF1 gene. Stability and activity of complex IV could be rescued in the patient's fibroblasts by lentiviral expression of wild-type COX8A. Our findings demonstrate that COX8A is indispensable for function of human complex IV and its mutation causes human disease.

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

    OpenAIRE

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

    2010-01-01

    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 aur...

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

    OpenAIRE

    2010-01-01

    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 aur...

  14. [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.

  15. 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...

  16. 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 ...

  17. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.

    Science.gov (United States)

    Symonds, Joseph D; Joss, Shelagh; Metcalfe, Kay A; Somarathi, Suresh; Cruden, Jamie; Devlin, Anita M; Donaldson, Alan; DiDonato, Nataliya; Fitzpatrick, David; Kaiser, Frank J; Lampe, Anne K; Lees, Melissa M; McLellan, Ailsa; Montgomery, Tara; Mundada, Vivek; Nairn, Lesley; Sarkar, Ajoy; Schallner, Jens; Pozojevic, Jelena; Parenti, Ilaria; Tan, Jeen; Turnpenny, Peter; Whitehouse, William P; Zuberi, Sameer M

    2017-04-01

    The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy consistently associated with this phenotype is PCDH19, an X-linked disorder restricted to females, and males with mosaicism. The SMC1A gene, which encodes a structural component of the cohesin complex is also located on the X chromosome. Missense variants and small in-frame deletions of SMC1A cause approximately 5% of Cornelia de Lange Syndrome (CdLS). Recently, protein truncating mutations in SMC1A have been reported in five females, all of whom have been affected by a drug-resistant epilepsy, and severe developmental impairment. Our objective was to further delineate the phenotype of SMC1A truncation. Female cases with de novo truncation mutations in SMC1A were identified from the Deciphering Developmental Disorders (DDD) study (n = 8), from postmortem testing of an affected twin (n = 1), and from clinical testing with an epilepsy gene panel (n = 1). Detailed information on the phenotype in each case was obtained. Ten cases with heterozygous de novo mutations in the SMC1A gene are presented. All 10 mutations identified are predicted to result in premature truncation of the SMC1A protein. All cases are female, and none had a clinical diagnosis of CdLS. They presented with onset of epileptic seizures between <4 weeks and 28 months of age. In the majority of cases, a marked preponderance for seizures to occur in clusters was noted. Seizure clusters were associated with developmental regression. Moderate or severe developmental impairment was apparent in all cases. Truncation mutations in SMC1A cause a severe epilepsy phenotype with cluster seizures in females. These mutations are likely to be nonviable in males. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  18. Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.

    Science.gov (United States)

    Schwarz, N; Hahn, A; Bast, T; Müller, S; Löffler, H; Maljevic, S; Gaily, E; Prehl, I; Biskup, S; Joensuu, T; Lehesjoki, A-E; Neubauer, B A; Lerche, H; Hedrich, U B S

    2016-02-01

    Mutations in SCN2A cause epilepsy syndromes of variable severity including neonatal-infantile seizures. In one case, we previously described additional childhood-onset episodic ataxia. Here, we corroborate and detail the latter phenotype in three further cases. We describe the clinical characteristics, identify the causative SCN2A mutations and determine their functional consequences using whole-cell patch-clamping in mammalian cells. In total, four probands presented with neonatal-onset seizures remitting after five to 13 months. In early childhood, they started to experience repeated episodes of ataxia, accompanied in part by headache or back pain lasting minutes to several hours. In two of the new cases, we detected the novel mutation p.Arg1882Gly. While this mutation occurred de novo in both patients, one of them carries an additional known variant on the same SCN2A allele, inherited from the unaffected father (p.Gly1522Ala). Whereas p.Arg1882Gly alone shifted the activation curve by -4 mV, the combination of both variants did not affect activation, but caused a depolarizing shift of voltage-dependent inactivation, and a significant increase in Na(+) current density and protein production. p.Gly1522Ala alone did not change channel gating. The third new proband carries the same de novo SCN2A gain-of-function mutation as our first published case (p.Ala263Val). Our findings broaden the clinical spectrum observed with SCN2A gain-of-function mutations, showing that fairly different biophysical mechanisms can cause a convergent clinical phenotype of neonatal seizures and later onset episodic ataxia.

  19. 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).

  20. Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear

    OpenAIRE

    Aridon, Paolo; Marini, Carla; Di Resta, Chiara; Brilli, Elisa; De Fusco, Maurizio; Politi, Fausta; Parrini, Elena; Manfredi, Irene; Pisano, Tiziana; Pruna, Dario; Curia, Giulia; Cianchetti, Carlo; Pasqualetti, Massimo; Becchetti, Andrea; Guerrini, Renzo

    2006-01-01

    Sleep has traditionally been recognized as a precipitating factor for some forms of epilepsy, although differential diagnosis between some seizure types and parasomnias may be difficult. Autosomal dominant frontal lobe epilepsy is characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements and has been associated with mutations of the α4 and β2 subunits of the neuronal nicotinic acetylcholine receptor. We performed a clinical and molecular gene...

  1. 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.

  2. [A study of epilepsy according to the age at onset and monitored for 3 years in a regional reference paediatric neurology unit].

    Science.gov (United States)

    Ochoa-Gómez, Laura; López-Pisón, Javier; Lapresta Moros, Carlos; Fuertes Rodrigo, Cristina; Fernando Martínez, Ruth; Samper-Villagrasa, Pilar; Monge-Galindo, Lorena; Peña-Segura, José Luis; García-Jiménez, María Concepción

    2017-01-01

    A study of epilepsy, according to the age at onset of the crisis and its causes, monitored by a Paediatric Neurology Unit over a period of three years. Historical cohorts study was conducted by reviewing the Paediatric Neurology medical records data base of epileptic children followed-up from 1 January 2008 to 31 December 2010. A total of 4,595 children were attended during the study period. The diagnosis of epilepsy was established in 605 (13.17%): 277 (45.79%) symptomatic, 156 (25.79%) idiopathic, and 172 (28.43%) with cryptogenic epilepsy. Absence epilepsy and benign childhood epilepsy with centro-temporal spikes are the idiopathic epileptic syndromes most prevalent, and the most prevalent symptomatic epilepsies are prenatal encephalopathies. More than one-quarter (26.12%) of epilepsies began in the first year of life, and 67.72% were symptomatic. Refractory epilepsy was observed in 25.29%, 42.46% with cognitive impairment, 26.45% with motor involvement, and 9.92% with an autism spectrum disorder, being more frequent at an earlier age of onset. The absence of a universally accepted classification of epileptic syndromes makes tasks like this difficult, starting with the terminology. A useful classification would be aetiological, with two groups: a large group with established aetiology, or very likely genetic syndromes, and another with no established cause. The age of onset of epilepsy in each aetiological group helps in the prognosis, which is worsened by refractoriness and associated neurodevelopmental disorders, and are generally worse at an earlier onset and in certain aetiologies. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  3. Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome.

    Science.gov (United States)

    Nasr, Enas; Mamak, Eva; Feigenbaum, Anette; Donner, Elizabeth J; Mercimek-Mahmutoglu, Saadet

    2015-04-01

    Pyridoxine-dependent epilepsy is an autosomal recessively inherited disorder of lysine catabolism caused by mutations in the ALDH7A1 gene. We report 2 patients with normal neurocognitive outcome (full-scale IQ of 108 and 74) and their more than 10 years' treatment outcome on pyridoxine monotherapy. Both patients had specific borderline impairments in visual processing speed. More long-term treatment outcome reports will increase our knowledge about the natural history of the disease.

  4. Gastaut型特发性儿童枕叶癫痫的临床及脑电图分析%Clinical analysis and electroencephalograghy features in idiopathic childhood occipital epilepsy of gastaut.

    Institute of Scientific and Technical Information of China (English)

    文家伦; 廖建湘; 陈彦; 陈黎

    2011-01-01

    Objective To investigate the clinical, electroencephalograghy (EEG) features and prognosis in children with idiopathic occipital epilepsy of Gastaut (COE-G). Methods A retrospective review was conducted of 13 children patients who were diagnosed as idiopathic occipital epilepsy of gastaut (COE-G). All of them were treated with antiepileptic drugs according to the seizure typies. The prognosis were reviewed. The clinical feature and EEG were analysed. Results In total, 13 children (6 boys and 7 girls) with idiopathic childhood occipital epilepsy of gastaut were enrolled in this study. The median age at seizure onset was 8.7 years. The ictal clinical manifestations involve frequent diurnal visual seizures in all patients, elementary visual hallucinations in nine (69.2%), blindness or blurring of vision in seven (53.8%), headache in five (38.5%), and secondarily generalized tonic-clonic seizures in three (23.1%). Frequent deviation of eyes and head were common, 1 patient had seizures at night also. Interictal EEG showed high-amplitude spikes, spike and wave discharge on the unilateral or bilateral occipital regions which had often been induced by eyes closed, inhibited by eyes open. Posterior temporal spikes occured in 4 cases (30.1%), brief generalized discharges of spike-wave in 1 case (7.7%). Ictal EEG showed continuing low-amplitude sharp wave rhythm originated from one hemisphere of the occipital or posterior temporal lobe, with its amplitude increasing gradually and spread to the former head of the same hemisphere or lateral head of the contralateral hemisphere during progress. 11 cases (84.6%) had seizure free, in half of whom the medication was terminated in late adolescence. Most of them was treated monotherapy, some required combination therapy, 2 cases had poor response to multiple antiepileptic drugs, and 1 case had mild cognitive impairment. Conclusion COE-G had relatively late onset, characterized by prominent diurnal visual seizures, more

  5. 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.

  6. 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.

  7. Reproductive endocrine function in women with epilepsy: the role of epilepsy type and medication.

    Science.gov (United States)

    Löfgren, Eeva; Mikkonen, Kirsi; Tolonen, Uolevi; Pakarinen, Arto; Koivunen, Riitta; Myllyla, Vilho V; Tapanainen, Juha S; Isojärvi, Jouko I T

    2007-02-01

    The purpose of the analysis described here was to assess reproductive endocrine disorders in 148 women with epilepsy (WWE) by epilepsy type and antiepileptic drug use. Women with idiopathic generalized epilepsy had a higher prevalence of reproductive endocrine disorders than control subjects. In addition, hyperandrogenism, polycystic ovaries, and polycystic ovary syndrome were more prevalent in WWE on valproate than in WWE taking other drugs or control women. The use of VPA was a predictor of the development of polycystic ovaries and polycystic ovary syndrome, and the use of valproate and younger age predicted the development of hyperandrogenism. In conclusion, both idiopathic generalized epilepsy and valproate were associated with an increased risk of reproductive endocrine disorders in WWE in this post hoc reanalysis of data on a large number of WWE. This was especially evident if the epilepsy was active and required treatment early in life.

  8. Depression and genetic causal attribution of epilepsy in multiplex epilepsy families.

    Science.gov (United States)

    Sorge, Shawn T; Hesdorffer, Dale C; Phelan, Jo C; Winawer, Melodie R; Shostak, Sara; Goldsmith, Jeff; Chung, Wendy K; Ottman, Ruth

    2016-10-01

    Rapid advances in genetic research and increased use of genetic testing have increased the emphasis on genetic causes of epilepsy in patient encounters. Research in other disorders suggests that genetic causal attributions can influence patients' psychological responses and coping strategies, but little is known about how epilepsy patients and their relatives will respond to genetic attributions of epilepsy. We investigated the possibility that among members of families containing multiple individuals with epilepsy, depression, the most frequent psychiatric comorbidity in the epilepsies, might be related to the perception that epilepsy has a genetic cause. A self-administered survey was completed by 417 individuals in 104 families averaging 4 individuals with epilepsy per family. Current depression was measured with the Patient Health Questionnaire. Genetic causal attribution was assessed by three questions addressing the following: perceived likelihood of having an epilepsy-related mutation, perceived role of genetics in causing epilepsy in the family, and (in individuals with epilepsy) perceived influence of genetics in causing the individual's epilepsy. Relatives without epilepsy were asked about their perceived chance of developing epilepsy in the future, compared with the average person. Prevalence of current depression was 14.8% in 182 individuals with epilepsy, 6.5% in 184 biologic relatives without epilepsy, and 3.9% in 51 individuals married into the families. Among individuals with epilepsy, depression was unrelated to genetic attribution. Among biologic relatives without epilepsy, however, prevalence of depression increased with increasing perceived chance of having an epilepsy-related mutation (p = 0.02). This association was not mediated by perceived future epilepsy risk among relatives without epilepsy. Depression is associated with perceived likelihood of carrying an epilepsy-related mutation among individuals without epilepsy in families containing

  9. Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner

    Directory of Open Access Journals (Sweden)

    Pamela eLachance-Touchette

    2014-10-01

    Full Text Available Mutations in genes encoding for GABAA receptor subunits is a well-established cause of genetic generalized epilepsy. GABA neurotransmission is implicated in several developmental processes including neurite outgrowth and synapse formation. Alteration in excitatory/inhibitory synaptic activities plays a critical role in epilepsy, thus here we investigated whether mutations in α1 subunit of GABAA receptor may affect dendritic spine and GABAergic bouton formation. In particular, we examined the effects of three mutations of the GABRA1 gene (D219N, A322D and K353delins18X that were found in a cohort of families with genetic generalized epilepsy. We used a novel single-cell genetic approach, by preparing cortical organotypic cultures from GABRA1flox/flox mice and simultaneously inactivating endogenous GABRA1 and transfecting mutant α1 subunits in single glutamatergic pyramidal cells and basket GABAergic interneurons by biolistic transfection. We found that GABRA1-/- GABAergic cells showed reduced innervation field, which was rescued by co-expressing α1-A322D and α1-WT but not α1-D219N. We further found that the expression of the most severe GABRA1 missense mutation (α1-A322D induced a striking increase of spine density in pyramidal cells along with an increase in the number of mushroom-like spines. In addition, α1-A322D expression in GABAergic cells slightly increased perisomatic bouton density, whereas other mutations did not alter bouton formation. All together, these results suggest that the effects of different GABAAR mutations on GABAergic bouton and dendritic spine formation are specific to the mutation and cannot be always explained by a simple loss-of-function gene model. The use of single cell genetic manipulation in organotypic cultures may provide a better understanding of the specific and distinct neural circuit alterations caused by different GABAA receptor subunit mutations and will help define the pathophysiology of genetic

  10. Comorbidity headache and epilepsy in childhood.

    Science.gov (United States)

    Yamane, L E; Montenegro, M A; Guerreiro, M M

    2004-04-01

    Epilepsy and headache are both frequent in childhood. Because seizures are frequently a frightening event, other medical conditions--including headache--are often neglected not only by the patient, but also by the physician. The objective of this study was to verify the comorbidity between headache and epilepsy in childhood. This was a prospective study conducted at the pediatric epilepsy clinic of our university hospital. Fifty children with epilepsy and ability to describe their symptoms, between 5 and 18 years old, were interviewed according to a semi-structured questionnaire. The headache was classified according to the International Headache Society. The frequency of headache was compared with the findings of a control group composed by children without epilepsy, siblings of children with epilepsy. Fifty children were evaluated, 29 boys, mean age 11 years. Twenty-three (46 %) patients presented with headache, as opposed to only 1 (2.5 %) in the control group ( p headache and in 9 (39.1 %) the type of headache could not be established. In 9/23 (39 %) a temporal relationship between headache and epilepsy was present, 6 postictal and 3 preictal. There was no difference in gender, age, type of seizure and family history of headache in the groups of patients with or without headache. However, most patients with headache were older than 10 years (54.5 %) and had idiopathic epilepsy (65.2 %; p headache usually started in the same year or after the diagnosis of epilepsy (95 %; p Headache and epilepsy are a common comorbidity in childhood, and occur mostly in children older than 10 years with idiopathic epilepsy. The headache usually starts in the same year or after the diagnosis of epilepsy.

  11. Psychiatric Comorbidity in Children with New Onset Epilepsy

    Science.gov (United States)

    Jones, Jana E.; Watson, Ryann; Sheth, Raj; Caplan, Rochelle; Koehn, Monica; Seidenberg, Michael; Hermann, Bruce

    2007-01-01

    The aim of this study was to characterize the distribution, timing, and risk factors for psychiatric comorbidity in children with recent onset epilepsy. Children aged 8 to 18 years with recent onset epilepsy (less than 1 year in duration) of idiopathic etiology (n=53) and a healthy comparison group (n=50) underwent a structured psychiatric…

  12. 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.

  13. [Generalized or focal photosensitive epilepsies].

    Science.gov (United States)

    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.

  14. 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.

  15. Rolandic epilepsy and dyslexia

    Directory of Open Access Journals (Sweden)

    Ecila P. Oliveira

    2014-11-01

    Full Text Available Objective Although benign epilepsy with centrotemporal spikes (BECTS is an idiopathic, age-related epilepsy syndrome with favorable outcome, recent studies have shown impairment in specific neuropsychological tests. The objective of this study was to analyze the comorbidity between dyslexia and BECTS. Method Thirty-one patients with clinical and electroencephalographic diagnosis of BECTS (group A and 31 paired children (group B underwent a language and neuropsychological assessment performed with several standardized protocols. Our findings were categorized as: a dyslexia; b other difficulties; c without difficulties. Our results were compared and statistically analyzed. Results Our data showed that dyslexia occurred in 19.4% and other difficulties in 74.2% of our patients. This was highly significant when compared with the control group (p<0.001. Phonological awareness, writing, reading, arithmetic, and memory tests showed a statistically significant difference when comparing both groups. Conclusion Our findings show significant evidence of the occurrence of dyslexia in patients with BECTS.

  16. PECULIARITIES OF TREATMENT OF EPILEPSY AT GIRLS AND WOMEN

    Directory of Open Access Journals (Sweden)

    O. A. Pylaeva

    2015-01-01

    Full Text Available The epilepsy treatment is to be based on existing general principles and standards of therapy with differential approach to each patient. Besides peculiarities of treatment of different types of seizures and forms of epilepsy there are also differential approaches to special groups of patients. To one of such groups are referred to women of reproductive age. These patients are referred to special group of risk due to the development of certain side effects of antiepileptic drugs (АED. This article focuses in details on peculiarities of treatment of women of reproductive age with epilepsy with accent made on tolerability and safety of the antiepileptic therapy. It is necessary to take into consideration, that at women neuroendocrinal disorders can be caused both by the disease itself – epilepsy (in such case disorders depend on the starting age, form of epilepsy, focal localization, duration of disorder and other factors, referred to the disease, as well as by the undertaken therapy. The articlehereunder considers only issues, referred to the treatment, i. e. AED side effects and its input in the decrease of life quality of women with epilepsy. As women’s reproductive function starts forming long ago before childbearing age, it is necessary for this category to comprise not only women and adolescents, but girls as well. Notwithstanding the fact that so called benign forms of epilepsy pass before the pubescence period (idiopathic focal epilepsies, several forms of idiopathic generalized epilepsy, in many cases the epilepsy, which has started in childhood, continues in the adult age as well. In the same time there can be possible remote negative consequences of the antiepileptic therapy, which can show at a woman of a reproductive age. The data, given in the article, witnesses the need of the right AED selection at women of reproductive age, suffering from epilepsy. The AED should be selected not only depending on the form of the

  17. A study of brain MRI findings in children with epilepsy

    Energy Technology Data Exchange (ETDEWEB)

    Kanematsu, Sachiko; Sumida, Sawako; Muto, Ayako; Osawa, Makiko; Ono, Yuko [Tokyo Women' s Medical Coll. (Japan); Uchida, Moriyasu; Maruyama, Hiroshi

    2000-06-01

    Magnetic resonance imaging in the brain was performed in 293 patients with childhood-onset (<15 y.o.) epilepsy who had been classified into 4 groups, idiopathic localization-related epilepsy (ILRE), 78 patients; idiopathic generalized epilepsy (IGE), 116 patients; symptomatic localization-related epilepsy (SLRE), 68 patients and symptomatic generalized epilepsy (SGE), 31 patients, with the Classification of Epilepsies and Epileptic Syndrome (1989 International League Against Epilepsy). The examination was performed with a 1.5 T magnet. One hundred twenty-five patients (42.7%) showed abnormal findings, and the incidence in each group was as follows: Idiopathic epilepsy: The rate of abnormal findings in the ILRE and IGE groups was 21.8% and 20.7%, respectively. Most of the abnormal findings were secondary changes, such as diffuse or localized brain atrophy. Of the congenital abnormalities, the main finding was arachnoid cyst. Symptomatic epilepsy: The rate of abnormality in the SLRE patients was 88.2%, and 85% of the findings were secondary changes, i.e., brain atrophy, or degeneration of the white matter. In the SGE group, the rate was 77.4%, with an almost equal percentage of congenital and secondary changes. Of 255 patients who were examined by electroencephalography (EEG) on the same day as MRI, about 50% showed a correlation between the EEG records and the MRI abnormalities. However, only 8 patients showed a correlation in localization between the EEG and MRI abnormalities. (author)

  18. Chronic idiopathic intestinal pseudo-obstruction caused by acquired visceral neuropathy localised in the left colon: report of two cases.

    Science.gov (United States)

    Suzuki, H; Amano, S; Matsumoto, K; Kitagawa, T; Masuda, T

    1987-07-01

    Two cases of chronic idiopathic intestinal pseudo-obstruction (CIIP) are reported. One is a 51-year-old man, and the other is a 47-year-old woman. Both patients presented with severe constipation and barium enema showed a marked dilation of the right colon, and a narrowing in the left colon. Studies done on the motility of the colon and anorectum revealed normal resting pressure profiles of the anorectom, a normal recto-anal reflex, and a normal resting tone of the collapsed colon. Administration of methacholine chloride, however, provoked large, non-propulsive movements in the collapsed colon, which were inhibited by the administration of atropin sulfate. Histologic examination disclosed a marked decrease in neurons and an increase of Schwann cells in the myenteric plexus of the collapsed colon. CIIP due to acquired visceral neuropathy localised in the left colon, was diagnosed as a result of manometric and histologic findings. One case was cured surgically, by a left hemi-colectomy, and the other was cured medically using choline antagonists and laxatives.

  19. [A Case of Postoperative Paraplegia Caused by Idiopathic Spinal Cord Infarction following Hepatectomy under Both General and Epidural Anesthesia].

    Science.gov (United States)

    Koga, Yukari; Hiraki, Teruyuki; Ushijima, Kazuo

    2015-04-01

    A 73-year-old woman (height : 155 cm, weight : 55 kg) was scheduled to undergo a laparotomic hepatectomy and radiofrequency ablation for hepatocellular carcinoma. Her medical history did not include any relevant conditions such as cardiovascular or neurological disorders. A thoracic epidural catheter was introduced at T8-9 before the induction of anesthesia with intravenous propofol. General anesthesia was maintained with the inhalation of oxygen, air, and desflurane, and the continuous infusion of remifentanil. Several intraoperative episodes of mild hypotension occurred, each of which was successfully treated with intravenous ephedrine, but otherwise her anesthetic course was uneventful, and she recovered from the anesthesia smoothly. Her postoperative pain was well controlled with continuous epidural infusion of levobupivacaine and fentanyl, and she could walk by herself on postoperative day (POD) 1. However, she suffered weakness in her lower extremities on POD2 and subsequently fell into complete paraplegia with sensory loss below the T4 level on POD3. A magnetic resonance imaging scan taken on POD4 showed an idiopathic spinal cord infarction (SCI) involving levels T1 through T4, although no epidural abnormalities, e.g., hematomas, were detected. Immediate treatment with methylprednisolone, ozagrel, and edaravone failed to resolve her symptoms. We suggest that it is of great importance to consider SCI as a differential diagnosis as soon as possible in cases of unanticipated postoperative paraplegia.

  20. Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect

    OpenAIRE

    2014-01-01

    Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene (PDE-ALDH7A1) encoding α-aminoadipic-semialdehyde-dehydrogenase enzyme in the lysine catabolic pathway resulting in an accumulation of α-aminoadipic-acid-semialdehyde (α-AASA). We present the one-year treatment outcome of a patient on a lysine-restricted diet. Serial cerebral-spinal-fluid (CSF) α-AASA and CSF pipecolic-acid levels showed decreased levels but did not normalize. He had a normal neurodevelopmental ...

  1. 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....

  2. 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.

  3. 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...

  4. 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.

  5. Chitin Oligosaccharide (COS) Reduces Antibiotics Dose and Prevents Antibiotics-Caused Side Effects in Adolescent Idiopathic Scoliosis (AIS) Patients with Spinal Fusion Surgery.

    Science.gov (United States)

    Qu, Yang; Xu, Jinyu; Zhou, Haohan; Dong, Rongpeng; Kang, Mingyang; Zhao, Jianwu

    2017-03-14

    Antibiotics are always considered for surgical site infection (SSI) in adolescent idiopathic scoliosis (AIS) surgery. However, the use of antibiotics often causes the antibiotic resistance of pathogens and side effects. Thus, it is necessary to explore natural products as drug candidates. Chitin Oligosaccharide (COS) has anti-inflammation and anti-bacteria functions. The effects of COS on surgical infection in AIS surgery were investigated. A total of 312 AIS patients were evenly and randomly assigned into control group (CG, each patient took one-gram alternative Azithromycin/Erythromycin/Cloxacillin/Aztreonam/Ceftazidime or combined daily), experiment group (EG, each patient took 20 mg COS and half-dose antibiotics daily), and placebo group (PG, each patient took 20 mg placebo and half-dose antibiotics daily). The average follow-up was one month, and infection severity and side effects were analyzed. The effects of COS on isolated pathogens were analyzed. SSI rates were 2%, 3% and 8% for spine wounds and 1%, 2% and 7% for iliac wound in CG, EG and PG (p antibiotics (p antibiotics dose and antibiotics-caused side effects in AIS patients with spinal fusion surgery by improving antioxidant and anti-inflammatory activities. COS should be developed as potential adjuvant for antibiotics therapies.

  6. An epidemiologic study of 389 children with epilepsy in southern Iran

    Directory of Open Access Journals (Sweden)

    Soroor INALOO

    2011-12-01

    Full Text Available How to Cite this Article: Inaloo S, Katibeh P. An epidemiologic study of 389 children with epilepsy in southern Iran.Iranian Journal of Child Neurology2011;5(4:15-20Objective Approximately 4% of the world's population experience one or more febrile seizures during their lifetime, and 0.5-1% of the population has active epilepsy.Less than one-third of the reported seizures are categorized as epilepsy. The cause of established epilepsy is important in determining the treatment and prognosis.Materials & Methods We studied 389 cases of documented epilepsy in children aged 2 months to 18 years who visited the hospital for neurologic examination during 2005-2010.Chi-square test or Fisher's exact test was performed for categorical variables.Results The most common age for the first seizure was below 2 years, and the most common type of epilepsy was generalized tonic-clonic seizure. Electroencephalography (EEG showed an epileptic pattern in 60%, 29.8%, and 51% of the patients with idiopathic, symptomatic, and cryptogenic epilepsy, respectively. This pattern was significantly different among these 3 categories of epilepsy.Conclusion The most common type of seizure was cryptogenic; however, in most industrialized countries, idiopathic epilepsies were more frequent. With respect to the age and sex of patients, the prevalence of epilepsy in southern Iran is not so much different from that of patients in other parts of the world. As to generalized or partial epilepsy, there are different reports from different part ofthe world; however, generalized tonic-clonic seizures were more common in our area.References Hauser, Hesdorffer DC. Epilepsy, frequency, causes and consequences. New WA York, NY: Demos Publications;1990.P.1–51.Jallon P. Epilepsy in developing countries. Epilepsia 1997; 38: 1143-51.King M, Newton M, Jackson G, Fitt G, Mitchell L, Silvapulle M, Berkovic S. Epileptology of the first-seizure presentation: a clinical

  7. Talking about epilepsy: Challenges parents face when communicating with their child about epilepsy and epilepsy-related issues.

    Science.gov (United States)

    O'Toole, Stephanie; Lambert, Veronica; Gallagher, Pamela; Shahwan, Amre; Austin, Joan K

    2016-04-01

    The aim of this qualitative study was to explore the challenges that parents of children with epilepsy experienced when engaging in dialog with their child about epilepsy and epilepsy-related issues. Using a qualitative exploratory approach, interviews were conducted with 34 parents of children with epilepsy (aged 6-16 years), consisting of 27 mothers and 7 fathers. Data were transcribed verbatim and thematically analyzed. Findings revealed five main themes: normalizing epilepsy, the invisibility of epilepsy, information concealment, fear of misinforming the child, and difficulty in discussing particular epilepsy-related issues. Many of the communicative challenges experienced by parents impacted on their ability to engage openly in parent-child dialog about epilepsy in the home. Parents face specific challenges when choosing to communicate with their child about epilepsy, relating to creating a sense of normality, reducing fear of causing their child worry, and having a lack of epilepsy-related knowledge. Healthcare professionals who work closely with families living with epilepsy should remain mindful of the importance of discussing family communication surrounding epilepsy and the challenges parents of children with epilepsy face when talking about epilepsy within the home.

  8. Idiopathic membranous nephropathy: outline and rationale of a treatment strategy.

    NARCIS (Netherlands)

    Buf-Vereijken, P.W.G. du; Branten, A.J.W.; Wetzels, J.F.M.

    2005-01-01

    Idiopathic membranous nephropathy is a common cause of nephrotic syndrome. The treatment of patients with idiopathic membranous nephropathy is heavily debated. Based on literature data and our own experience, we propose a rational treatment strategy. Patients with renal insufficiency (serum

  9. [Neuropsychological disorders and childhood epilepsies].

    Science.gov (United States)

    Vallée, Louis

    2012-12-01

    Neuropsychological consequences of epilepsy will be function of the specific anamnesis of the child, characteristics of epilepsy syndromes, and treatment. The effects of recurrent seizures, iatrogenic effects of medications, and school adaptation are reviewed. The neurodevelopmental origins of comorbidities are detailed, how they develop over time. Despite the good prognosis and the remission of seizures before adulthood with normal neurological and intellectual development, some subtle cognitive and behavioural deficits in children with benign epilepsy seem to occur. Cognition can be impaired leading to long-term intellectual disabilities. One factor that could potentially cause cognitive deficits is the frequent seizures that characterize intractable epilepsy.

  10. Calcium ion channel and epilepsy

    Institute of Scientific and Technical Information of China (English)

    Yudan Lü; Weihong Lin; Dihui Ma

    2006-01-01

    OBJECTIVE: To review the relationship between calcium ion channel and epilepsy for well investigating the pathogenesis of epilepsy and probing into the new therapeutic pathway of epilepsy.DATA SOURCES: A computer-based online research Calcium ion channel and epilepsy related articles published between January 1994 and December 2006 in the CKNI and Wanfang database with the key words of "calcium influxion, epilepsy, calcium-channel blocker". The language was limited to Chinese. At the same time,related articles published between January 1993 and December 2006 in Pubmed were searched for on online with the key words of "calcium influxion, epilepsy" in English.STUDY SELECTION: The materials were selected firstly. Inclusive criteria: ① Studies related to calcium ion channel and the pat1hogenesis of epilepsy. ② Studies on the application of calcium ion channel blocker in the treatment of epilepsy. Exclusive criteria: repetitive or irrelated studies.DATA EXTRACTION: According to the criteria, 123 articles were retrieved and 93 were excluded due to repetitive or irrelated studies. Altogether 30 articles met the inclusive criteria, 11 of them were about the structure and characters of calcium ion channel, 10 about calcium ion channel and the pathogenesis of epilepsy and 9 about calcium blocker and the treatment of epilepsy.DATA SYNTHESIS: Calcium ion channels mainly consist of voltage dependent calcium channel and receptor operated calcium channel. Depolarization caused by voltage gating channel-induced influxion is the pathological basis of epileptic attack, and it is found in many studies that many anti-epileptic drugs have potential and direct effect to rivalizing voltage-dependent calcium ion channel.CONCLUSION: Calcium influxion plays an important role in the seizure of epilepsy. Some calcium antagonists seen commonly are being tried in the clinical therapy of epilepsy that is being explored, not applied in clinical practice. If there are enough evidences to

  11. CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation

    OpenAIRE

    2016-01-01

    Mutations in SCN1A, the gene encoding the α subunit of Nav1.1 channel, can cause epilepsies with wide ranges of clinical phenotypes, which are associated with the contrasting effects of channel loss-of-function or gain-of-function. In this project, CRISPR/Cas9- and TALEN-mediated genome-editing techniques were applied to induced pluripotent stem cell (iPSC)-based-disease model to explore the mechanism of epilepsy caused by SCN1A loss-of-function mutation. By fluorescently labeling GABAergic s...

  12. 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.

  13. Outcomes of Hemiepiphyseal Stapling for Genu Valgum Deformities in Patients With Multiple Hereditary Exostoses: A Comparative Study of Patients With Deformities of Idiopathic Cause.

    Science.gov (United States)

    Kang, Seungcheol; Kim, Jae Young; Park, Soo-Sung

    2017-06-01

    Patients with multiple hereditary exostoses (MHE) frequently present with a genu valgum deformity. Temporary hemiepiphysiodesis, such as hemiepiphyseal stapling, is a relatively safe surgical method to correct angular deformities in skeletally immature patients, but its outcomes for genu valgum deformity in MHE patients have not been extensively reported. We investigated the outcomes of hemiepiphyseal stapling in MHE patients (MHE group) and compared those with the outcomes in patients with idiopathic deformities (idiopathic group) after adjusting for potential bias. Data from 70 limbs with genu valgum deformity (15 MHE and 55 idiopathic), which had undergone hemiepiphyseal stapling, were retrospectively reviewed. The outcomes were focused on the achievement of satisfactory correction and the velocity of correction. The independent effects of each characteristic on each outcome were investigated using multivariate analyses. The outcomes between the groups were also compared after 1:2 matching using propensity score analysis. The mean valgus angle of the MHE group was 7.4±4.1 degrees at stapling and was corrected to 1.3±3.0 degrees at staple removal. The rate of satisfactory corrections was not different between the MHE and idiopathic groups (67% and 70%, respectively, P=0.820). However, the correction velocity was significantly lower in the MHE group than in the idiopathic group on both multivariate analysis (P=0.001) and matching comparison (4.4 vs. 7.9 degrees/y, Pgenu valgum deformity, satisfactory correction can be achieved by hemiepiphyseal stapling and is comparable with that seen in idiopathic patients. However, the MHE group showed lower correction velocity and required a longer time by about one half year for correction compared with the idiopathic group. Temporary hemiepiphysiodesis should be considered at an earlier age for patients with MHE compared with those with idiopathic deformity. Level III-prognostic study.

  14. A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.

    Science.gov (United States)

    Corbett, Mark A; Schwake, Michael; Bahlo, Melanie; Dibbens, Leanne M; Lin, Meng; Gandolfo, Luke C; Vears, Danya F; O'Sullivan, John D; Robertson, Thomas; Bayly, Marta A; Gardner, Alison E; Vlaar, Annemarie M; Korenke, G Christoph; Bloem, Bastiaan R; de Coo, Irenaeus F; Verhagen, Judith M A; Lehesjoki, Anna-Elina; Gecz, Jozef; Berkovic, Samuel F

    2011-05-13

    The progressive myoclonus epilepsies (PMEs) are a group of predominantly recessive disorders that present with action myoclonus, tonic-clonic seizures, and progressive neurological decline. Many PMEs have similar clinical presentations yet are genetically heterogeneous, making accurate diagnosis difficult. A locus for PME was mapped in a consanguineous family with a single affected individual to chromosome 17q21. An identical-by-descent, homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), a Golgi vesicle transport gene, was identified in this patient and in four apparently unrelated individuals. A comparison of the phenotypes in these patients defined a clinically distinct PME syndrome characterized by early-onset ataxia, action myoclonus by age 6, scoliosis, and mildly elevated serum creatine kinase. This p.Gly144Trp mutation is equivalent to a loss of function and results in failure of GOSR2 protein to localize to the cis-Golgi.

  15. A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia

    Science.gov (United States)

    Corbett, Mark A.; Schwake, Michael; Bahlo, Melanie; Dibbens, Leanne M.; Lin, Meng; Gandolfo, Luke C.; Vears, Danya F.; O'Sullivan, John D.; Robertson, Thomas; Bayly, Marta A.; Gardner, Alison E.; Vlaar, Annemarie M.; Korenke, G. Christoph; Bloem, Bastiaan R.; de Coo, Irenaeus F.; Verhagen, Judith M.A.; Lehesjoki, Anna-Elina; Gecz, Jozef; Berkovic, Samuel F.

    2011-01-01

    The progressive myoclonus epilepsies (PMEs) are a group of predominantly recessive disorders that present with action myoclonus, tonic-clonic seizures, and progressive neurological decline. Many PMEs have similar clinical presentations yet are genetically heterogeneous, making accurate diagnosis difficult. A locus for PME was mapped in a consanguineous family with a single affected individual to chromosome 17q21. An identical-by-descent, homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), a Golgi vesicle transport gene, was identified in this patient and in four apparently unrelated individuals. A comparison of the phenotypes in these patients defined a clinically distinct PME syndrome characterized by early-onset ataxia, action myoclonus by age 6, scoliosis, and mildly elevated serum creatine kinase. This p.Gly144Trp mutation is equivalent to a loss of function and results in failure of GOSR2 protein to localize to the cis-Golgi. PMID:21549339

  16. THE STRUCTURE OF COSTS OF ANTIEPILEPTIC THERAPY ACCORDING TO THE DATA OF CENTER FOR CHILDREN WITH EPILEPSY

    Directory of Open Access Journals (Sweden)

    E. V. Shagrova

    2012-01-01

    Full Text Available The authors analyzed the direct and indirect costs of treating epilepsy in 611 children aged from 1 month to 18 years in urban outpatient treatment and diagnostic center for the treatment of epilepsy in children based on the individual characteristics of each patient: forms of epilepsy, used regimen of therapy, effectiveness of therapy, body mass. The pharmacoeconomic aspects in idiopathic generalized epilepsy, idiopathic partial epilepsy, epileptic encephalopathies, symptomatic partial epilepsy and cryptogenic partial epilepsy were analyzed. It turned out that in patients with 50% effectiveness of treatment costs increase by more than twice, and in cases of non- effectiveness of treatment — more than three times — in all forms of epilepsy. Indirect costs in cases of loss of control for seizures exceed the direct costs saving

  17. Idiopathic focal eosinophilic enteritis (IFEE, an emerging cause of abdominal pain in horses: the effect of age, time and geographical location on risk.

    Directory of Open Access Journals (Sweden)

    Debra C Archer

    Full Text Available BACKGROUND: Idiopathic focal eosinophilic enteritis (IFEE is an emerging cause of abdominal pain (colic in horses that frequently requires surgical intervention to prevent death. The epidemiology of IFEE is poorly understood and it is difficult to diagnose pre-operatively. The aetiology of this condition and methods of possible prevention are currently unknown. The aims of this study were to investigate temporal and spatial heterogeneity in IFEE risk and to ascertain the effect of horse age on risk. METHODOLOGY/PRINCIPAL FINDINGS: A retrospective, nested case-control study was undertaken using data from 85 IFEE cases and 848 randomly selected controls admitted to a UK equine hospital for exploratory laparotomy to investigate the cause of colic over a 10-year period. Generalised additive models (GAMs were used to quantify temporal and age effects on the odds of IFEE and to provide mapped estimates of 'residual' risk over the study region. The relative risk of IFEE increased over the study period (p = 0.001 and a seasonal pattern was evident (p<0.01 with greatest risk of IFEE being identified between the months of July and November. IFEE risk decreased with increasing age (p<0.001 with younger (0-5 years old horses being at greatest risk. The mapped surface estimate exhibited significantly atypical sub-regions (p<0.001 with increased IFEE risk in horses residing in the North-West of the study region. CONCLUSIONS/SIGNIFICANCE: IFEE was found to exhibit both spatial and temporal variation in risk and is more likely to occur in younger horses. This information may help to identify horses at increased risk of IFEE, provide clues about the aetiology of this condition and to identify areas that require further research.

  18. 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.

  19. 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.

  20. Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.

    Science.gov (United States)

    Kluger, G; Blank, R; Paul, K; Paschke, E; Jansen, E; Jakobs, C; Wörle, H; Plecko, B

    2008-10-01

    We report on a male proband with pyridoxine-dependent epilepsy (PDE) and neonatal seizure onset. At the age of 31 months, a prolonged status epilepticus led to severe neurological regression with cortical blindness, loss of speech and muscular hypotonia with slow recovery over the following 3 months. At 33 months of age pyridoxine therapy was initiated with excellent response and the boy remained seizure-free on pyridoxine monotherapy, except for two occasions with seizure recurrence 10 days after accidental pyridoxine withdrawal. alpha-aminoadipic semialdehyde dehydrogenase (antiquitin) deficiency was indicated by elevated pipecolic acid concentrations in plasma and alpha-aminoadipic semialdehyde excretion in urine. Molecular analysis of the antiquitin gene revealed a novel missense mutation c.57insA, while the mutation of the other allele remained unidentified so far. Despite the delay in diagnosis and prolonged status epilepticus, neuropsychological evaluations at the ages of 11 and 18 years demonstrated full-scale IQ of 93 and 92, respectively, with better verbal IQ (103 and 101) than performance IQ (85 and 82).

  1. Epilepsy and vaccinations: Italian guidelines.

    Science.gov (United States)

    Pruna, Dario; Balestri, Paolo; Zamponi, Nelia; Grosso, Salvatore; Gobbi, Giuseppe; Romeo, Antonino; Franzoni, Emilio; Osti, Maria; Capovilla, Giuseppe; Longhi, Riccardo; Verrotti, Alberto

    2013-10-01

    Reports of childhood epilepsies in temporal association with vaccination have had a great impact on the acceptance of vaccination programs by health care providers, but little is known about this possible temporal association and about the types of seizures following vaccinations. For these reasons the Italian League Against Epilepsy (LICE), in collaboration with other Italian scientific societies, has decided to generate Guidelines on Vaccinations and Epilepsy. The aim of Guidelines on Vaccinations and Epilepsy is to present recent unequivocal evidence from published reports on the possible relationship between vaccines and epilepsy in order to provide information about contraindications and risks of vaccinations in patients with epilepsy. The following main issues have been addressed: (1) whether contraindications to vaccinations exist in patients with febrile convulsions, epilepsy, and/or epileptic encephalopathies; and (2) whether any vaccinations can cause febrile seizures, epilepsy, and/or epileptic encephalopathies. Diphtheria-tetanus-pertussis (DTP) vaccination and measles, mumps, and rubella vaccination (MMR) increase significantly the risk of febrile seizures. Recent observations and data about the relationships between vaccination and epileptic encephalopathy show that some cases of apparent vaccine-induced encephalopathy could in fact be caused by an inherent genetic defect with no causal relationship with vaccination.

  2. 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

  3. [Definition and classification of epilepsy].

    Science.gov (United States)

    Jibiki, Itsuki

    2014-05-01

    The concept or definition of epilepsy was mentioned as a chronic disease of the brain consisting of repetitions of EEG paroxysm and clinical seizures caused by excessive discharges of the cerebral neurons, in reference with Gastaut's opinion and the other statements. Further, we referred to diseases to be excluded from epilepsy such as isolated, occasional and subclinical seizures and so on. Next, new classifications of seizures and epilepsies were explained on the basis of revised terminology and concepts for organization of seizures and epilepsies in Report of the ILAE Communication in Classification and Terminology, 2005-09, in comparison with the Classification of Epileptic Seizures in 1981 and the Classification of Epilepsies and Epileptic Syndromes in 1989.

  4. Neocortical Temporal Lobe Epilepsy

    Science.gov (United States)

    Bercovici, Eduard; Kumar, Balagobal Santosh; Mirsattari, Seyed M.

    2012-01-01

    Complex partial seizures (CPSs) can present with various semiologies, while mesial temporal lobe epilepsy (mTLE) is a well-recognized cause of CPS, neocortical temporal lobe epilepsy (nTLE) albeit being less common is increasingly recognized as separate disease entity. Differentiating the two remains a challenge for epileptologists as many symptoms overlap due to reciprocal connections between the neocortical and the mesial temporal regions. Various studies have attempted to correctly localize the seizure focus in nTLE as patients with this disorder may benefit from surgery. While earlier work predicted poor outcomes in this population, recent work challenges those ideas yielding good outcomes in part due to better localization using improved anatomical and functional techniques. This paper provides a comprehensive review of the diagnostic workup, particularly the application of recent advances in electroencephalography and functional brain imaging, in neocortical temporal lobe epilepsy. PMID:22953057

  5. Loss of function of Slc20a2 associated with familial idiopathic basal ganglia calcification in humans causes brain calcifications in mice

    DEFF Research Database (Denmark)

    Jensen, Nina; Daa Schrøder, Henrik; Kildall Hejbøl, Eva;

    2013-01-01

    Familial idiopathic basal ganglia calcification (FIBGC) is a neurodegenerative disorder with neuropsychiatric and motor symptoms. Deleterious mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), were recently linked to FIBGC in almost 50 % of the families...

  6. 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 ...

  7. 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 ...

  8. First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.

    Science.gov (United States)

    Smets, Katrien; Duarri, Anna; Deconinck, Tine; Ceulemans, Berten; van de Warrenburg, Bart P; Züchner, Stephan; Gonzalez, Michael Anthony; Schüle, Rebecca; Synofzik, Matthis; Van der Aa, Nathalie; De Jonghe, Peter; Verbeek, Dineke S; Baets, Jonathan

    2015-07-21

    Identification of the first de novo mutation in potassium voltage-gated channel, shal-related subfamily, member 3 (KCND3) in a patient with complex early onset cerebellar ataxia in order to expand the genetic and phenotypic spectrum. Whole exome sequencing in a cerebellar ataxia patient and subsequent immunocytochemistry, immunoblotting and patch clamp assays of the channel were performed. A de novo KCND3 mutation (c.877_885dupCGCGTCTTC; p.Arg293_Phe295dup) was found duplicating the RVF motif and thereby adding an extra positive charge to voltage-gated potassium 4.3 (Kv4.3) in the voltage-sensor domain causing a severe shift of the voltage-dependence gating to more depolarized voltages. The patient displayed a severe phenotype with early onset cerebellar ataxia complicated by intellectual disability, epilepsy, attention deficit hyperactivity disorder, strabismus, oral apraxia and joint hyperlaxity. We identified a de novo KCND3 mutation causing the most marked change in Kv4.3's channel properties reported so far, which correlated with a severe and unique spinocerebellar ataxia (SCA) type 19/22 disease phenotype.

  9. Functional Investigation of a Non-coding Variant Associated with Adolescent Idiopathic Scoliosis in Zebrafish: Elevated Expression of the Ladybird Homeobox Gene Causes Body Axis Deformation.

    Directory of Open Access Journals (Sweden)

    Long Guo

    2016-01-01

    Full Text Available Previously, we identified an adolescent idiopathic scoliosis susceptibility locus near human ladybird homeobox 1 (LBX1 and FLJ41350 by a genome-wide association study. Here, we characterized the associated non-coding variant and investigated the function of these genes. A chromosome conformation capture assay revealed that the genome region with the most significantly associated single nucleotide polymorphism (rs11190870 physically interacted with the promoter region of LBX1-FLJ41350. The promoter in the direction of LBX1, combined with a 590-bp region including rs11190870, had higher transcriptional activity with the risk allele than that with the non-risk allele in HEK 293T cells. The ubiquitous overexpression of human LBX1 or either of the zebrafish lbx genes (lbx1a, lbx1b, and lbx2, but not FLJ41350, in zebrafish embryos caused body curvature followed by death prior to vertebral column formation. Such body axis deformation was not observed in transcription activator-like effector nucleases mediated knockout zebrafish of lbx1b or lbx2. Mosaic expression of lbx1b driven by the GATA2 minimal promoter and the lbx1b enhancer in zebrafish significantly alleviated the embryonic lethal phenotype to allow observation of the later onset of the spinal curvature with or without vertebral malformation. Deformation of the embryonic body axis by lbx1b overexpression was associated with defects in convergent extension, which is a component of the main axis-elongation machinery in gastrulating embryos. In embryos overexpressing lbx1b, wnt5b, a ligand of the non-canonical Wnt/planar cell polarity (PCP pathway, was significantly downregulated. Injection of mRNA for wnt5b or RhoA, a key downstream effector of Wnt/PCP signaling, rescued the defective convergent extension phenotype and attenuated the lbx1b-induced curvature of the body axis. Thus, our study presents a novel pathological feature of LBX1 and its zebrafish homologs in body axis deformation at

  10. Idiopathic gingival fibromatosis

    Directory of Open Access Journals (Sweden)

    Nitin Hemchandra Dani

    2015-01-01

    Full Text Available Idiopathic gingival fibromatosis (IGF is a rare hereditary condition characterized by slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva caused by increase in submucosal connective tissue elements, mostly associated with some syndrome. This case report describes a case of nonsyndromic generalized IGF in an 18-year-old male patient who presented with generalized gingival enlargement. The enlarged tissue was surgically removed by internal bevel gingivectomy and ledge and wedge procedure. The patient was regularly monitored clinically for improvement in his periodontal condition as well as for any recurrence of gingival overgrowth.

  11. Idiopathic gingival fibromatosis

    Science.gov (United States)

    Dani, Nitin Hemchandra; Khanna, Dinkar Parveen; Bhatt, Vaibhavi Hitesh; Joshi, Chaitanya Pradeep

    2015-01-01

    Idiopathic gingival fibromatosis (IGF) is a rare hereditary condition characterized by slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva caused by increase in submucosal connective tissue elements, mostly associated with some syndrome. This case report describes a case of nonsyndromic generalized IGF in an 18-year-old male patient who presented with generalized gingival enlargement. The enlarged tissue was surgically removed by internal bevel gingivectomy and ledge and wedge procedure. The patient was regularly monitored clinically for improvement in his periodontal condition as well as for any recurrence of gingival overgrowth. PMID:26941525

  12. [Idiopathic progressive subglottic stenosis].

    Science.gov (United States)

    Sittel, C

    2014-07-01

    Idiopathic subglottic stenosis is causing a narrowing of the central airway at the laryngotracheal junction. Etiology is remaining unclear at large. There is a marked preponderance for women in the fertile age, an association to estrogene or progesterone metabolism remains doubtful. Suggested treatment varies from repeated endoscopic interventions to primary open resection. Therapy selection in this heterogeneous condition should be based on the individual patient situation as well as surgeon's expertise. This complex entity is prone to complications and should preferably be managed in a referral center.

  13. Nonchylous idiopathic pleural effusion in the newborn

    Directory of Open Access Journals (Sweden)

    Geeta Gathwala

    2011-01-01

    Full Text Available Congenital isolated pleural effusion is a rare cause of respiratory distress in neonates. It is usually chylous. Herein, we report a rare case of nonchylous congenital idiopathic pleural effusion.

  14. 脑灰质异位症致难治性癫痫1例%A report of 1 case of refractory epilepsy caused by brain gray matter heterotopia

    Institute of Scientific and Technical Information of China (English)

    孙红霞; 陶寻明

    2014-01-01

    目的:脑灰质异位症所导致的癫痫是难治性癫痫的常见原因,MRI检查是诊断大脑灰质异位症最敏感的方法。对无临床症状的脑灰质异位症,一般不需要治疗。癫痫患者应使用抗癫痫药物控制其发作。脑灰质异位症临床少见,结合其发病特点,对儿童和青少年期起病的癫痫尤其是难治性癫痫患者以及出生后体格、精神发育迟滞的患者均宜行脑部影像学检查,尤其是MRI检查,以防误诊误治。本文介绍分析了1例脑灰质异位症患者的临床资料。%Brain gray matter heterotopia caused by epilepsy is a common cause of refractory epilepsy.MRI is the most sensitive method for diagnosis of brain gray matter heterotopia.For asymptomatic brain gray matter heterotopia,treatment is generally not need.Epilepsy antiepileptic drugs should be used to control its attack. Brain gray matter heterotopia is clinical rare.Combining with the characteristics of the onset,Children and adolescent onset of epilepsy,especially in patients with refractory epilepsy, physical,mental retardation patients after birth are suitable for brain imaging,especially MRI examination,in order to prevent misdiagnosis. In this paper, the clinical data of 1 case of brain gray matter heterotopia is analyzed.

  15. Limbic encephalitis associated with anti-voltage-gated potassium channel complex antibodies as a cause of adult-onset mesial temporal lobe epilepsy.

    Science.gov (United States)

    Toyota, Tomoko; Akamatsu, Naoki; Tsuji, Sadatoshi; Nishizawa, Shigeru

    2014-06-01

    Recently, some reports have indicated that limbic encephalitis associated with anti-voltage-gated potassium channel complex antibodies (VGKC-Ab) is a cause of adult-onset mesial temporal lobe epilepsy (MTLE). We report a 53-year-old woman who had her first epileptic seizure at the age of 50 years old. Examination by 3-Tesla brain MRI revealed left hippocampal high signal intensity and swelling on fluid-attenuated inversion recovery (FLAIR) and T2-weighted imaging at 2 months after her first seizure. The patient received intravenous methylprednisolone and carbamazepine 300 mg/day. One month later, MRI revealed improvement of her left hippocampal abnormalities. Thereafter, she had no seizures, however, three years after her first seizure, EEG revealed a seizure pattern in the left temporal region. Brain MRI revealed left hippocampal high signal intensity and brain fluorodeoxyglucose positron emission tomography revealed hypermetabolism. Her serum VGKC-Ab levels were 118 pM(normal VGKC-Ab levels decreased to 4.4 pM. Remission of the epileptic seizures was also observed. This MTLE in the middle age was considered as limbic encephalitis associated with anti- VGKC-Ab. In cases of unexplained adult-onset MTLE, limbic encephalitis associated with anti-VGKC-Ab, which responds well to immunotherapy, should be considered in the differential diagnosis.

  16. Idiopathic short stature

    Directory of Open Access Journals (Sweden)

    Vlaški Jovan

    2013-01-01

    Full Text Available Growth is a complex process and the basic characteristic of child- hood growth monitoring provides insight into the physiological and pathological events in the body. Statistically, the short stature means departure from the values of height for age and sex (in a particular environment, which is below -2 standard deviation score, or less than -2 standard deviation, i.e. below the third percentile. Advances in molecular genetics have contributed to the improvement of diagnostics in endocrinology. Analysis of patients’ genotypes should not be performed before taking a classical history, detailed clinical examination and appropriate tests. In patients with idiopathic short stature specific causes are excluded, such as growth hormone deficiency, Turner syndrome, short stature due to low birth weight, intrauterine growth retardation, small for gestational age, dysmorphology syndromes and chronic childhood diseases. The exclusion of abovementioned conditions leaves a large number of children with short stature whose etiology includes patients with genetic short stature or familial short stature and those who are low in relation to genetic potential, and who could also have some unrecognized endocrine defect. Idiopathic short stature represents a short stature of unknown cause of heterogeneous etiology, and is characterized by a normal response of growth hormone during stimulation tests (>10 ng/ml or 20 mJ/l, without other disorders, of normal body mass and length at birth. In idiopathic short stature standard deviation score rates <-2.25 (-2 to -3 or <1.2 percentile. These are also criteria for the initiation of growth hormone therapy. In children with short stature there is also the presence of psychological and social suffering. Goals of treatment with growth hormone involve achieving normal height and normal growth rate during childhood.

  17. Genetics Home Reference: spinal muscular atrophy with progressive myoclonic epilepsy

    Science.gov (United States)

    ... Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes muscle weakness ... muscle jerks (myoclonic epilepsy). In individuals with SMA-PME, spinal muscular atrophy results from a loss of ...

  18. 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

  19. Psychiatric Aspects of Childhood Epilepsy

    Directory of Open Access Journals (Sweden)

    Raman Deep PATTANAYAK

    2012-06-01

    Full Text Available How to Cite this Article: Pattanayak RD, Sagar R. Psychiatric Aspects of Childhood Epilepsy. Iran J Child Neurol 2012;6(2:9-18.Childhood epilepsy is a chronic, recurrent disorder of unprovoked seizures. Theonset of epilepsy in childhood has significant implications for brain growth anddevelopment. Seizures may impair the ongoing neurodevelopmental processes and compromise the child’s intellectual and cognitive functioning, leading totremendous cognitive, behavioral and psychosocial consequences. Children with epilepsy are at increased risk for emotional and behavioral problems. In addition to the direct effects of epilepsy, there are multiple contributory factors including the underlying neurological abnormalities and adverse effects of medication. This review discusses the current understanding of various psychiatric aspects of childhood epilepsy, including the neuropsychological, behavioral and psychosocial concomitants of childhood epilepsy.References1. Shinnar S, Pellock JM. Update on the epidemiology and prognosis of pediatric epilepsy. J Child Neurol 2002;7 suppl 1:4-17.2. Murphy CC, Trevathan E, Yeargin-Allsopp M. Prevalence of epilepsy and epileptic seizures in 10-year-old children: results from the Metropolitan Atlanta Developmental Disabilities Study. Epilepsia 1995;36(9:866-72.3. Placencia M, Shorvon SD, Paredes V, Bimos C, Sander JW, Suarez J, et al. Epileptic seizures in an Andean region of Ecuador ncidence and prevalence and regional variation. Brain 1992;115:771-82.4. Henkin Y, Sadeh M, Kivity S, Shabtai E, KishonRabin L, Gadoth N. Cognitive function in idiopathic generalized epilepsy of childhood. Dev Med Child Neurol 2005;47:126-32.5. Rodenburg R, Stams GJ, Meijer AM, Aldenkamp AP, Dekovic M. Psychopathology in children with epilepsy: a meta-analysis. J Pediatr Psychol 2005;30(6:453-68.6. Caplan R, Siddarth P, Gurbani S, Ott D, Sankar R, Shields WD. Psychopathology and pediatric complex partial seizures: seizure

  20. Epilepsy, physical activity and sports

    OpenAIRE

    Carrizosa-Moog, Jaime

    2017-01-01

    People with epilepsy are prone to be sedentary compared with the general population. The causes of inactivity are ignorance, prejudice, overprotection, fear and shame. There is no scientific evidence supporting a limitation of physical exercise in persons with epilepsy. The benefits of exercise in these patients are huge. Positive aspects are: physical conditioning, prevention of seizures, emotional wellbeing, social interaction, drug treatment adherence, osteoporosis prevention and better qu...

  1. 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.

  2. Frequency and Etiology of ADHD in New Onset Epilepsy

    OpenAIRE

    2007-01-01

    The prevalence, complications and etiology of ADHD were determined in 75 children (age 8-18 years) with new/recent onset idiopathic epilepsy nd 62 healthy first-degree cousin controls, in a study at University of Wisconsin School of Medicine and Public Health, Madison, WI; and Rosalind Franklin University of Medicine and Science, North Chicago, IL.

  3. Frequency and Etiology of ADHD in New Onset Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-12-01

    Full Text Available The prevalence, complications and etiology of ADHD were determined in 75 children (age 8-18 years with new/recent onset idiopathic epilepsy nd 62 healthy first-degree cousin controls, in a study at University of Wisconsin School of Medicine and Public Health, Madison, WI; and Rosalind Franklin University of Medicine and Science, North Chicago, IL.

  4. 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

  5. Antiepileptic drug withdrawal in dogs with epilepsy

    Directory of Open Access Journals (Sweden)

    Felix Kaspar Gesell

    2015-08-01

    Full Text Available Epilepsy is one of the most common neurological disorders in dogs and is treated by chronic administration of antiepileptic drugs (AEDs. In humans with epilepsy, it is common clinical practice to consider drug withdrawal after a patient has been in remission (seizure free for three or more years, but withdrawal is associated with the risk of relapse. In the present study, the consequences of AED withdrawal were studied in dogs with epilepsy. Therefore, 200 owners of dogs with idiopathic or presumed idiopathic epilepsy were contacted by telephone interview, 138 cases could be enrolled. In 11 cases the therapy had been stopped after the dogs had become seizure free for a median time of 1 year. Reasons for AED withdrawal were appearance or fear of adverse side effects, financial aspects and the idea that the medication could be unnecessary. Following AED withdrawal, 4 of these dogs remained seizure free, 7 dogs suffered from seizure recurrence, of which only 3 dogs could regain seizure freedom after resuming AED therapy. Due to the restricted case number, an exact percentage of dogs with seizure recurrence after AED withdrawal cannot be given. However, the present study gives a hint that similar numbers as in human patients are found, and the data can help owners of epileptic dogs and the responsible clinician to decide when and why to stop antiepileptic medication.

  6. Antiepileptic Drug Withdrawal in Dogs with Epilepsy.

    Science.gov (United States)

    Gesell, Felix Kaspar; Hoppe, Sonja; Löscher, Wolfgang; Tipold, Andrea

    2015-01-01

    Epilepsy is one of the most common neurological disorders in dogs and is treated by chronic administration of antiepileptic drugs (AEDs). In human beings with epilepsy, it is common clinical practice to consider drug withdrawal after a patient has been in remission (seizure free) for three or more years, but withdrawal is associated with the risk of relapse. In the present study, the consequences of AED withdrawal were studied in dogs with epilepsy. Therefore, 200 owners of dogs with idiopathic or presumed idiopathic epilepsy were contacted by telephone interview, 138 cases could be enrolled. In 11 cases, the therapy had been stopped after the dogs had become seizure free for a median time of 1 year. Reasons for AED withdrawal were appearance or fear of adverse side effects, financial aspects, and the idea that the medication could be unnecessary. Following AED withdrawal, four of these dogs remained seizure free, seven dogs suffered from seizure recurrence, of which only three dogs could regain seizure freedom after resuming AED therapy. Due to the restricted case number, an exact percentage of dogs with seizure recurrence after AED withdrawal cannot be given. However, the present study gives a hint that similar numbers as in human patients are found, and the data can help owners of epileptic dogs and the responsible clinician to decide when and why to stop antiepileptic medication.

  7. Association of Family History of Epilepsy with Earlier Age Onset of Juvenile Myoclonic Epilepsy

    Science.gov (United States)

    NAJAFI, Mohammad Reza; NAJAFI, Mohammad Amin; SAFAEI, Ali

    2016-01-01

    Objective Juvenile myoclonic epilepsy (JME) is supposedly the most frequent subtype of idiopathic generalized epilepsies (IGE). The aim of this study was to determine the prevalence of JME and comparison of patients’ demographics as well as timeline of the disease between positive family history epileptic patients (PFHE) and negative family history epileptic patients (NFHE) among sample of Iranian epileptic patients. Materials & Methods From Feb. 2006 to Oct. 2009, 1915 definite epileptic patients (873 females) referred to epilepsy clinics in Isfahan, central Iran, were surveyed and among them, 194 JME patients were diagnosed. JME was diagnosed by its specific clinical and EEG criteria. Patients were divided into two groups as PFHE and NFHE and data were compared between them. Results JME was responsible for 10% (194 patients) of all types of epilepsies. Of JME patients, 53% were female. In terms of family history of epilepsy, 40% were positive. No significant differences was found between PFHE and NFHE groups as for gender (P>0.05). Age of epilepsy onset was significantly earlier in PFHE patients (15 vs. 22 yr, P<0.001). Occurrence of JME before 18 yr old among PFHE patients was significantly higher (OR=2.356, P=0.007). Conclusion A family history of epilepsy might be associated with an earlier age of onset in patients with JME. PMID:27247579

  8. 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.

  9. Association of Family History of Epilepsy with Earlier Age Onset of Juvenile Myoclonic Epilepsy.

    Science.gov (United States)

    Najafi, Mohammad Reza; Najafi, Mohammad Amin; Safaei, Ali

    2016-01-01

    Juvenile myoclonic epilepsy (JME) is supposedly the most frequent subtype of idiopathic generalized epilepsies (IGE). The aim of this study was to determine the prevalence of JME and comparison of patients' demographics as well as timeline of the disease between positive family history epileptic patients (PFHE) and negative family history epileptic patients (NFHE) among sample of Iranian epileptic patients. From Feb. 2006 to Oct. 2009, 1915 definite epileptic patients (873 females) referred to epilepsy clinics in Isfahan, central Iran, were surveyed and among them, 194 JME patients were diagnosed. JME was diagnosed by its specific clinical and EEG criteria. Patients were divided into two groups as PFHE and NFHE and data were compared between them. JME was responsible for 10% (194 patients) of all types of epilepsies. Of JME patients, 53% were female. In terms of family history of epilepsy, 40% were positive. No significant differences was found between PFHE and NFHE groups as for gender (P>0.05). Age of epilepsy onset was significantly earlier in PFHE patients (15 vs. 22 yr, P<0.001). Occurrence of JME before 18 yr old among PFHE patients was significantly higher (OR=2.356, P=0.007). A family history of epilepsy might be associated with an earlier age of onset in patients with JME.

  10. Behavioral and Movement Disorders due to Long-Lasting Myoclonic Status Epilepticus Misdiagnosed as ADHD in a Patient With Juvenile Myoclonic Epilepsy: Electroclinical Findings and Related Hemodynamic Changes.

    Science.gov (United States)

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

    2016-01-01

    Epilepsy and attention-deficit/hyperactivity disorder (ADHD) likely share common underlying neural mechanisms, as often suggested by both the evidence of electroencephalography (EEG) abnormalities in ADHD patients without epilepsy and the coexistence of these 2 conditions. The differential diagnosis between epilepsy and ADHD may consequently be challenging. In this report, we describe a patient presenting with a clinical association of "tics" and behavioral disorders that appeared 6 months before our first observation and had previously been interpreted as ADHD. A video-EEG evaluation documented an electroclinical pattern of myoclonic status epilepticus. On the basis of the revised clinical data, the EEG findings, the good response to valproate, the long-lasting myoclonic status epilepticus, and the enduring epileptic abnormalities likely causing behavioral disturbances, the patient's symptoms were interpreted as being the expression of untreated juvenile myoclonic epilepsy. The EEG-functional magnetic resonance imaging study revealed, during clinical generalized spike-and-wave and polyspike-and-wave discharges, positive blood oxygen level-dependent (BOLD) signal changes bilaterally in the thalamus, the prefrontal cortex (Brodmann area 6, supplementary motor area) and the cerebellum, and negative BOLD signal changes in the regions of the default mode network. Such findings, which are typical of BOLD changes observed in idiopathic generalized epilepsy, may also shed light on the anatomofunctional network underlying ADHD. © EEG and Clinical Neuroscience Society (ECNS) 2015.

  11. Juvenile myoclonic epilepsy: epidemiology, pathophysiology, and management.

    Science.gov (United States)

    Welty, Timothy E

    2006-01-01

    Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome that begins most frequently in the early teenage years. It is officially classified as a type of idiopathic generalized epilepsy and is often under-recognized or misdiagnosed. This syndrome has a strong genetic component with multiple gene mutations being associated with the clinical presentation. Based upon genetic associations, there may be multiple pathophysiologic mechanisms for the disorder; the pathophysiology has not been clearly defined. A diagnosis of JME is made using the clinical history and EEG findings. Valproic acid is the primary antiepileptic drug (AED) used for JME, but some newer AEDs may be effective alternatives. Selection of an appropriate AED is essential to the proper management of JME, because of the possibility of exacerbation of seizures by some AEDs and the adverse effect profiles of effective drugs. It is important for clinicians to understand JME to correctly diagnose and manage patients with this syndrome.

  12. 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

  13. Clinical Characteristics and Prognosis of Idiopathic Occipital Epilepsy and Electrical Status Epilepticus in Sleeping Children%特发性儿童枕叶癫(癎)伴睡眠期癫(癎)性电持续状态的临床特征及预后

    Institute of Scientific and Technical Information of China (English)

    张胜; 罗序峰; 付四毛; 朱建平; 吴涛

    2012-01-01

    Objective To investigate the clinical manifestations, electroencephalogram(EEG) characteristics, treatment response and prognosis of children with idiopathic occipital epilepsy and electrical status epilepticus in sleep (ESES) . Methods Clinical and EEG data of 8 cases with idiopathic occipital epilepsy and ESES were analyzed together with follow - up for treatment and prognosis. Results The onset age varied from 5 years and 8 months to 8 years and 4 months in the 8 cases. All the 8 cases had neuropsychological injury and motor regression, but had no history of family epilepsy and clear abnormalities by brain imaging examination. Seven patients had seizures, performing exercise - induced limited seizures after waking up; seizures could also attack during awaking period ,including exercise - induced limited seizures (5/7 cases) and overall tonic -clonic seizures (2/7 cases). Antiepileptic drugs (AEDs) reduced attacks in 4 cases,but did not improve the psychological damage to nerve and motor rcgression obviously. Mild improvement in neuropsychological injury and EEG were observed in 3 cases treated with single drug Oxcarbazepine ( OXC). Six cases, who were treated with intravenous methylprednisolone shock therapy, had ideal control, and 1 case had marked improvement of nerve injury and psychological setback in movement. Eight patients were followed up by EEG for 0. 5 -2. 0 years,and 2 cases improved in ESES phenomenon. Up to follow - up,the 8 cases of patients still had mental retardation compared with healthy children in the same age. Conclusions Idiopathic occipital epilepsy is an age - dependent benign epilepsy in children; AEDs are often ineffective when the EEG showes ESES of the patients; hormones can reduce the clinical attack, but can not improve the psychological nerve damage and phenomenon of EEG ESES. Children with poor response to corticosteroids can be treated with OXC monothe-rapy or combined therapy.%目的 探讨特发性枕叶癫(癎)伴睡眠期

  14. Ictal consciousness in epilepsy and nonepileptic attack disorder.

    Science.gov (United States)

    Ali, Fizzah; Rickards, Hugh; Bagary, Manny; Greenhill, Lyn; McCorry, Doug; Cavanna, Andrea Eugenio

    2010-11-01

    Exploration of subjective experiences during seizures may enhance knowledge of the differing natures of epilepsy and nonepileptic attack disorder (NEAD). We performed a quantitative evaluation of both the general level of awareness and the specific contents of consciousness during seizures using the Ictal Consciousness Inventory (ICI). Ninety-five adult outpatients attending general neuropsychiatry and epilepsy clinics with established diagnoses of either epilepsy (n = 66) or NEAD (n = 29) completed one ICI for each witnessed seizure recalled. Patients with a dubious/dual diagnosis were excluded. ICI Level (ICI-L) and ICI Content (ICI-L) scores were calculated for the 167 questionnaires generated by patients with epilepsy (n = 119, of which 58 from patients with temporal lobe epilepsy, 14 frontal lobe epilepsy, and 47 idiopathic 30 generalized epilepsy) and patients with NEAD (n = 48). Mann-Whitney U tests revealed statistically significant higher ICI-L and ICI-C scores for patients with NEAD (both P = 0.01). Subjective reports of consciousness experiences varied between epilepsy and NEAD, with patients with NEAD reporting significantly greater levels of general awareness/responsiveness and more vivid subjective experiences during attacks. The ICI is proposed as a potentially useful self-report instrument to supplement clinical and instrumental tests for the differential diagnosis of epilepsy and NEAD. Copyright © 2010 Elsevier Inc. All rights reserved.

  15. Possible relationship between phenylthiocarbamide taste sensitivity and epilepsy.

    Science.gov (United States)

    Pal, S K; Sharma, K; Pathak, A; Sawhney, I M S; Prabhakar, S

    2004-06-01

    The study was based on the data of a sample of 400 epileptic patients (200 idiopathic and 200 symptomatic) and 100 normal healthy individuals serving as controls. The PTC threshold distribution was bimodal. The number of non-tasters among idiopathic epileptics (35.5%) and symptomatic epileptics (32.5%) was significantly higher than controls (20%). The relative incidence of non-tasters in idiopathic and symptomatic epilepsies was 2.20 and 1.93 respectively. There is evidence that non-tasters tend to ingest a greater quantity of bitter tasting goitrogenic substances present naturally in edible plants which in turn exert greater thyroid stress in non-tasters or less sensitive tasters. Such a stress during intrauterine or early childhood growth and development might have affected neurological maturation which in turn made them more susceptible to epilepsy than tasters, who faced lesser stress.

  16. Possible relationship between phenylthiocarbamide taste sensitivity and epilepsy

    Directory of Open Access Journals (Sweden)

    Pal S

    2004-04-01

    Full Text Available The study was based on the data of a sample of 400 epileptic patients (200 idiopathic and 200 symptomatic and 100 normal healthy individuals serving as controls. The PTC threshold distribution was bimodal. The number of non-tasters among idiopathic epileptics (35.5% and symptomatic epileptics (32.5% was significantly higher than controls (20%. The relative incidence of non-tasters in idiopathic and symptomatic epilepsies was 2.20 and 1.93 respectively. There is evidence that non-tasters tend to ingest a greater quantity of bitter tasting goitrogenic substances present naturally in edible plants which in turn exert greater thyroid stress in non-tasters or less sensitive tasters. Such a stress during intrauterine or early childhood growth and development might have affected neurological maturation which in turn made them more susceptible to epilepsy than tasters, who faced lesser stress.

  17. Idiopathic subglottic stenosis: a familial predisposition.

    Science.gov (United States)

    Dumoulin, Elaine; Stather, David R; Gelfand, Gary; Maranda, Bruno; Maceachern, Paul; Tremblay, Alain

    2013-03-01

    Idiopathic subglottic stenosis is a narrowing of the trachea at the level of the cricoid cartilage of unknown etiology. It is a rare condition for which the real incidence has never been established owing to the difficulty of making the diagnosis. Although there is a female preponderance, no familial cases have been reported in the literature. We describe two pairs of sisters as well as a mother and daughter presenting with idiopathic subglottic stenosis. All known causes of tracheal stenosis were excluded, including prolonged intubation, surgery, autoimmune and inflammatory disorders, infection and gastroesophageal reflux disease. These are the first cases reported in the literature that suggest a genetic predisposition for idiopathic subglottic stenosis.

  18. 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.

  19. Adolescents' lived experience of epilepsy.

    Science.gov (United States)

    Eklund, Pernilla Garmy; Sivberg, Bengt

    2003-02-01

    To improve the well-being of adolescents with epilepsy, research is needed on how adolescents cope. In this study, Lazarus' model of stress and coping and Antonovsky's Theory of Sense of Coherence were used as the theoretical framework. The aim was to describe the lived experience of adolescents with epilepsy and their coping skills. The participants were 13-19 years old with an epilepsy diagnosis but without mental retardation or cerebral palsy. The study was performed in southern Sweden at the pediatric department of a university hospital. Semistructured and open-ended interviews were conducted with 13 adolescents. The transcripts were analyzed with manifest and latent content analysis. All the adolescents had developed strategies to cope with the emotional strains caused by epilepsy. They experienced strains from the seizures, limitation of leisure activities, side effects of medication, and feelings of being different. The coping strategies described were finding support, being in control, and experimenting.

  20. Idiopathic thrombocytopenic purpura

    Directory of Open Access Journals (Sweden)

    L Kayal

    2014-01-01

    Full Text Available Idiopathic thrombocytopenic purpura (ITP is defined as a hematologic disorder, characterized by isolated thrombocytopenia without a clinically apparent cause. The major causes of accelerated platelet consumption include immune thrombocytopenia, decreased bone marrow production, and increased splenic sequestration. The clinical presentation may be acute with severe bleeding, or insidious with slow development with mild or no symptoms. The initial laboratory tests useful at the first visit to predict future diagnosis were erythrocyte count, leukocyte count, anti-glycoprotein IIb/IIIa antibodies, reticulated platelets, plasma thrombopoietin level. Treatment should be restricted to those patients with moderate or severe thrombocytopenia who are bleeding or at risk of bleeding. We present a case report on ITP with clinical presentation, diagnosis and management.

  1. Juvenile idiopathic arthritis

    Directory of Open Access Journals (Sweden)

    Krupa H Bhatt

    2014-01-01

    Full Text Available Juvenile Idiopathic Arthritis (JIA is the most chronic musculoskeletal disease of pediatric population. The chronic course of disease has a great impact on oral health. Temporomandibular joint is involved in JIA causing limited mouth opening with progressive open bite, retrognathia, microgenia and bird like appearance. Joints of upper and lower extremities are also involved. Effect on upper limb function leads to difficulty with fine motor movements required for brushing and flossing. This increases incidence of caries and periodontal disease in children. The cause of JIA is still poorly understood and none of the available drugs for JIA can cure the disease. However, prognosis has improved as a result of progress in disease classification and management. The dental practitioner should be familiar with the symptoms and oral manifestations of JIA to help manage as multidisciplinary management is essential.

  2. 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 ...

  3. 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

  4. Dendritic ion channelopathy in acquired epilepsy.

    Science.gov (United States)

    Poolos, Nicholas P; Johnston, Daniel

    2012-12-01

    Ion channel dysfunction or "channelopathy" is a proven cause of epilepsy in the relatively uncommon genetic epilepsies with Mendelian inheritance. But numerous examples of acquired channelopathy in experimental animal models of epilepsy following brain injury have also been demonstrated. Our understanding of channelopathy has grown due to advances in electrophysiology techniques that have allowed the study of ion channels in the dendrites of pyramidal neurons in cortex and hippocampus. The apical dendrites of pyramidal neurons comprise the vast majority of neuronal surface membrane area, and thus the majority of the neuronal ion channel population. Investigation of dendritic ion channels has demonstrated remarkable plasticity in ion channel localization and biophysical properties in epilepsy, many of which produce hyperexcitability and may contribute to the development and maintenance of the epileptic state. Herein we review recent advances in dendritic physiology and cell biology, and their relevance to epilepsy. Wiley Periodicals, Inc. © 2012 International League Against Epilepsy.

  5. Shared mechanisms of epilepsy, migraine and affective disorders.

    Science.gov (United States)

    Zarcone, Davide; Corbetta, Simona

    2017-05-01

    Since the nineteenth century several clinical features have been observed in common between migraine and epilepsy (such as episodic attacks, triggering factors, presence of aura, frequent familiarity), but only in recent years researchers have really engaged in finding a common pathogenic mechanism. From studies of disease incidence, we understand how either migraine among patients with epilepsy or epilepsy among migraine patients are more frequent than in the general population. This association may result from a direct causality, by the same environmental risk factors and/or by a common genetic susceptibility. Ischemic events are the most frequent direct causes, especially among women and elderly people: migraine can lead to silent or clinically considerable strokes, and these ones could explain the increased risk of developing epilepsy in people with a history of migraine. Head injuries can lead headache, often with migraine characteristics, and seizures. But there are also many idiopathic cases. The comorbidity migraine-epilepsy might be explained in these cases by a neuronal hyperexcitability, which increases the risk of both diseases: a higher concentration of extracellular glutamate, the main excitatory neurotransmitter, leads in fact as a result a Cortical Spreading Depression (the pathophysiological mechanism at the base of aura) and convulsions; antiepileptic drugs such as topiramate are, therefore, used also in migraine prophylaxis. A genetic link between these two diseases is particularly evident in familial hemiplegic migraine: mutations of ATP1A2, SCN1A and CACNA1A genes, identified in this disease, have also been involved in different types of epilepsy and febrile seizures. The channelopathies, especially engaging sodium and potassium ions, can be the common pathogenic mechanism of migraine and epilepsy. Both migraine and epilepsy also have, compared to the general population, a higher prevalence and incidence of affective disorders such as anxiety

  6. Symptomatic Epilepsies due to Cerebrovascular Diseases

    Science.gov (United States)

    Dakaj, Nazim; Shatri, Nexhat; Isaku, Enver; Zeqiraj, Kamber

    2014-01-01

    Introduction: Cerebro-vascular diseases (CVD) are the leading cause of symptomatic epilepsies. This study aims to investigate: a) Frequency of epilepsy in patients with CVD; b) Correlation of epilepsy with the type of CVD (ischemic and hemorrhage) and with age. Methodology: It is analyzed medical documentation of 816 hospitalized patients with CVD in the clinic of Neurology in University Clinical Center (UCC) during the period January - December 2010. The study included data on patients presenting with epileptic seizures after CVD, and those with previously diagnosed epilepsy, are not included in the study. The diagnosis of CVD, are established in clinical neurological examination and the brain imaging (computer tomography and magnetic resonance imaging). The diagnosis of epilepsy is established by the criteria of ILAE (International League against Epilepsy) 1983, and epileptic seizures are classified according to the ILAE classification, of 1981. Results: Out of 816 patients with CVD, 692 were with ischemic stroke and 124 with hemorrhage. From 816 patients, epileptic seizures had 81 (10%), of which 9 patients had been diagnosed with epilepsy earlier and they are not included in the study. From 72 (99%) patients with seizures after CVD 25 (33%) have been with ischemia, whereas 47 (67%) with hemorrhage. Conclusion: CVD present fairly frequent cause of symptomatic epilepsies among patients treated in the clinic of Neurology at UCC (about 10%). The biggest number of patients with epilepsy after CVD was with intracerebral hemorrhage. PMID:25685086

  7. Epilepsy and tobacco smoking: a cross-sectional study.

    Science.gov (United States)

    Torriani, Omar; Vuilleumier, Frédéric; Perneger, Thomas; Despland, Paul-Andre; Maeder, Malin; Héritier-Barras, Anne-Chantal; Vulliemoz, Serge; Seeck, Margitta; Rossetti, Andrea O; Picard, Fabienne

    2016-10-01

    There is little data concerning the prevalence of smoking in the population of people with epilepsy. The present study addresses this aspect in a sample of 429 unselected adults with epilepsy living in French-speaking Switzerland. The criterion of at least one cigarette per day for the past 6 months was used to define the status of "current" smoker. The questionnaires included questions about the type of epilepsy and tobacco consumption and were prospectively filled by attending neurologists in the presence of their patient, ensuring a reliable diagnosis of epilepsy. Data were compared with those of the "Tabakmonitoring" data collection, which gives annually detailed information about tobacco use habits in the Switzerland's population according to the different linguistic regions. Among patients suffering from epilepsy, the prevalence of current smoking was 32.1 % (28.8 % among women and 35 % among men), while the prevalence of smoking was 19.0 % in the general population in French-speaking Switzerland in the same period [OR 2.0, confidence interval (CI) 1.6-2.5, p < 0.001]. The subgroup of patients with epilepsy suffering from idiopathic (genetic) generalized epilepsy had the highest prevalence of smoking: 44.3 versus 27.8 % in the other types of epilepsy-p = 0.03. Epilepsy appears significantly correlated to smoking. The possible causal relationship, such as common genetic susceptibility to epilepsy and to nicotine addiction, indirect comorbidity through stress or depression associated with epilepsy, beneficial effect of nicotine on epilepsy, still remains unclear and deserves further studies.

  8. 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

  9. Genetic Causal Attribution of Epilepsy and its Implications for Felt Stigma

    Science.gov (United States)

    Sabatello, Maya; Phelan, Jo C.; Hesdorffer, Dale C.; Shostak, Sara; Goldsmith, Jeff; Sorge, Shawn T.; Winawer, Melodie R.; Chung, Wendy K.; Ottman, Ruth

    2015-01-01

    Summary Objective Research in other disorders suggests that genetic causal attribution of epilepsy might be associated with increased stigma. We investigated this hypothesis in a unique sample of families containing multiple individuals with epilepsy. Methods 181 people with epilepsy and 178 biological relatives without epilepsy completed a self-administered survey. In people with epilepsy, felt stigma was assessed through the Epilepsy Stigma Scale (ESS), scored 1 to 7 with higher scores indicating more stigma and >4 indicating some felt stigma. Felt stigma related to having epilepsy in the family was assessed through the Family Epilepsy Stigma Scale (FESS), created by replacing “epilepsy” with “epilepsy in my family” in each ESS item. Genetic attribution was assessed through participants’ perceptions of the (1) role of genetics in causing epilepsy in the family, (2) chance they had an epilepsy-related mutation, and (3) (in people with epilepsy) influence of genetics in causing their epilepsy. Results Among people with epilepsy, 22% met criteria for felt stigma (ESS score >4). Scores were increased among individuals who were aged ≥60 years, were unemployed, reported epilepsy-related discrimination, or had seizures within the last year or >100 seizures in their lifetime. Adjusting for other variables, ESS scores in people with epilepsy were significantly higher among those who perceived genetics played a “medium” or “big” role in causing epilepsy in the family than in others (3.4 vs. 2.7, p=0.025). Only 4% of relatives without epilepsy had felt stigma. Scores in relatives were unrelated to genetic attribution. Significance In these unusual families, predictors of felt stigma in individuals with epilepsy are similar to those in other studies, and stigma levels are low in relatives without epilepsy. Felt stigma may be increased in people with epilepsy who believe epilepsy in the family has a genetic cause, emphasizing the need for sensitive

  10. 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.

  11. 去氨加压素致儿童低血钠性癫痫发作8例分析%Analysis of 8 Cases of Pediatric Hyponatremia Epilepsy Caused by Desmopressin

    Institute of Scientific and Technical Information of China (English)

    王璐; 邹湘; 盛光耀

    2012-01-01

    目的:提示临床重视去氨加压素致儿童低血钠性癫痫发作.方法:回顾性分析8例患儿使用去氨加压素后导致低血钠性癫痫发作的病历,记录其年龄、性别、癫痫既往史、诊断、给药方式、发作时间、发作形式、血钠水平、处理措施.结果:8例患儿年龄2~7岁;男性5例,女性3例;既往均无癫痫病史;尿崩症1例,轻型血友病甲1例,扁桃体切除术后2例,腺样体切除术后3例,眼外伤术后1例;均为静脉输注给药,按0.3μg·kg-1给药6例,超出0.3μg·kg12例;均发作在给药2~4d;均表现为癫痫大发作;血钠水平为119~125mmol·L-1.采取停用去氨加压素、地西泮止抽、呋塞米利尿、高张盐水输注纠正低钠血症后缓解.结论:去氨加压素可致儿童低血钠性癫痫发作,临床应用时应严格掌握适应证并严密监测血钠水平.%OBJECTIVE: To report and analyze the adverse drug reaction induced by desmopressin which caused hyponatremia epilepsy, and to promote rational drug use in the clinic. METHODS: Medical records of 8 cases of hyponatremia epilepsy induced by desmopressin were analyzed retrospectively to record age, gender, epilepsy history, diagnosis, route of administration, time and form of epilepsy, serum sodium concentration and therapy. RESULTS: The age of these 8 cases were from 2 to 7 years old. There were 5 male and 3 female. All cases had no epilepsy history. 1 case was diabetes insipidus, 1 case was hemophilia A, 2 cases were post-tonsillectomy, 3 cases were post-adenoidectomy, 1 cases was post-ocular trauma operation. The routes of administration were all intravenous injection. The dosage were 0.3 μg·kg-1 among 6 cases and >0.3 μg·kg-1 among 2 cases. Epilepsy happened 2 to 4 days after medication and manifested as grand mal. Serum sodium concentration was 119—125 mmol·L-1. All cases were given diazepam, ftirosemide and hypertonic sodium chloride, and stopped taking desmopressin when

  12. [Modern aspects of epilepsy treatment].

    Science.gov (United States)

    Alajbegović, Azra; Kantardzić, Dzelaludin; Suljić, Enra; Alajbegović, Salem

    2003-01-01

    It is a general rule today, after a relevant diagnostics of an epilepsy, to start a monotherapy treatment, depending on a kind of a seizure, a life age and a general health condition. First line of monotherapy epilepsy drugs remain carbamazapine and sodium valproat. New drugs that are being introduced are: felbamat, gabapentin, lamotrigin, oxcarbazepin, tiagabin, topiramat, vigabatin and zanisamid. These are commonly used as add-on therapy, or as an addition for previously used antiepileptic. Their indicated areas are complex resistant partial seizures with or without generalization. Attention should be paid on proper dosage, interactions and toxicity. Regardless on the new epileptic era, according to reports of International League against epilepsy, most of the patients do not receive the drug that is the most appropriate for them concerning the price (cost-benefit). Neurosurgical methods in epilepsy treatment are: selective amygdalo-hyppocampotomy, temporal lobotomy, subpial resection, hemispherectomy, corpus callosotomy, removal of lesions like tumors or cysts provide encouraging results in reduction of epileptic seizures that can be followed by reduction of drug therapy. N. vagus stimulation is being wider introduced in resident epileptics. Treatment of epilepsy in women requires an approach to sexuality, conception, pregnancy, introduction of medicaments, antiepileptic terratogenity, contraception, motherhood and menopause. A special significance of modern approach to epilepsy is in treatment of elderly who have cerebrovascular and neurodegenerative disease as a cause of seizures. A complex treatment of epilepsy using pharmacological and neurosurgical approach requires supportive psychotherapy, socio-therapy, the work with a family, education about epilepsy and living a life with more quality having one.

  13. Idiopathic Bilateral Bloody Tearing

    Directory of Open Access Journals (Sweden)

    Emrullah Beyazyıldız

    2015-01-01

    Full Text Available Bloody tear is a rare and distinct clinic phenomenon. We report a case presenting with the complaint of recurrent episodes of bilateral bloody tearing. A 16-year-old girl presented to our clinic with complaint of bloody tearing in both eyes for 3 months. Bloody tearing was not associated with her menses. A blood-stained discharge from the punctum was not observed during the compression of both nasolacrimal ducts. Nasolacrimal passage was not obstructed. Imaging studies such as dacryocystography and gradient-echo magnetic resonance imaging (MRI of nasolacrimal canal were normal. Intranasal endoscopic evaluation was normal. We collected samples from bloody tears two times and pathological examination was performed. Pathological analysis showed lots of squamous cells and no endometrial cells; dysplastic cells were found. Further evaluations for underlying causes were unremarkable. No abnormalities were found in ophthalmologic, radiologic, and pathologic investigations. This condition is likely a rare abnormality and the least recognized aetiology for the idiopathic phenomenon.

  14. Idiopathic short stature.

    Science.gov (United States)

    Pasquino, A M; Albanese, A; Bozzola, M; Butler, G E; Buzi, F; Cherubini, V; Chiarelli, F; Cavallo, L; Drop, S L; Stanhope, R; Kelnar, C J

    2001-07-01

    Idiopathic short stature (ISS) is a term used to describe the status of children with short stature that cannot be attributed to a specific cause. Many children diagnosed as having ISS have partial GH insensitivity, which can result from disturbances at various points of the GH-IGF-I axis. Several clinical studies on spontaneous growth in ISS showed that adult height was almost in the range of target height. GH treatment led to adult height not significantly higher than the pretreatment predicted adult height in most reports. No metabolic side effects have been observed, even when the dose was higher than in GH deficiency. Manipulation of puberty with gonadotrophin releasing hormone analogues reported by a few authors in a small number of children has shown conflicting results. Long-term psychological benefits of GH therapy for short normal children have not been demonstrated to date.

  15. Idiopathic isolated orbicularis weakness

    Science.gov (United States)

    MacVie, O P; Majid, M A; Husssin, H M; Ung, T; Manners, R M; Ormerod, I; Pawade, J; Harrad, R A

    2012-01-01

    Purpose Orbicularis weakness is commonly associated with seventh nerve palsy or neuromuscular and myopathic conditions such as myotonic dystrophy and myasethenia gravis. We report four cases of idiopathic isolated orbicularis weakness. Methods All four cases were female and the presenting symptoms of ocular irritation and epiphora had been present for over 7 years in three patients. All patients had lagophthalmos and three had ectropion. Three patients underwent full investigations which excluded known causes of orbicularis weakness. Two patients underwent oribularis oculi muscle biopsy and histological confirmation of orbicularis atrophy. Results All patients underwent surgery to specifically address the orbicularis weakness with satisfactory outcomes and alleviation of symptoms in all cases. Isolated orbicularis weakness may be a relatively common entity that is frequently overlooked. Conclusion Early recognition of this condition may lead to better management and prevent patients undergoing unnecessary surgical procedures. PMID:22322997

  16. 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...... 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...

  17. The electroclinical-semiology of generalized tonic-clonic seizures among different epilepsies.

    Science.gov (United States)

    Pan, S P; Wang, F; Zhang, Y; Wang, J

    2015-11-01

    The study reported here discusses the duration of the generalized tonic-clonic seizures (GTCS) among frontal lobe epilepsy (FLE), medial temporal lobe epilepsy (MTLE) and idiopathic generalized epilepsy (IGE). The study was done by analyzing the data from patients who had undergone video-EEG in 2009 and had GTCS during the monitoring. The patients were selected for the frontal lobe epilepsy (FLE), medial temporal lobe epilepsy (MTLE), and idiopathic generalized epilepsy (IGE). Once they met the criteria, the durations of all the phases were measured, then discussed if there were any difference in duration for different epilepsies. On comparison of the total duration of various types of seizures it was found that the duration of FLE (177 ± 212.6 sec.) was significantly different from the duration of MTLE (104.6 ± 51.8 sec.) and IGE (63.9 ± 28.2 sec.). It can be found in the comparison of GTCS that the duration of phase 6,7 of FLE (63.5 ± 30.9 sec.) was statistically significant compared with MTLE (37.3 ± 13.8 sec.) and IGE (46.4 ± 30.1 sec.). The duration of various types of epilepsy in the generalized tonic-clonic period was not statistically significant. Through this study, we found the differences of the duration of different types of epilepsies that provide the clinical basis for further studies of seizure mechanism and neural network conduction.

  18. The treatment of women with epilepsy.

    Science.gov (United States)

    Weil, Sabine; Deppe, Charlotte; Noachtar, Soheyl

    2010-11-01

    Women with epilepsy and their doctors are often unsure of the implications of the disease and the limitations it causes. There is a major need for counseling. Selective review of the literature as of November 2009. Recommendations on pregnancy and childbearing for women with epilepsy can be found in the guidelines issued by the German Societies of Neurology and Epileptology and by the American Epilepsy Society. Only low-level evidence is available on other relevant questions, including contraception, the influence of hormones on epilepsy, and the influence of antiepileptic drugs on endocrine and bone metabolism, because of a lack of controlled studies. Polycystic ovarian syndrome is more commonly seen in women with epilepsy who take valproate. Antiepileptic drugs that induce CYP3a can diminish the efficacy of oral contraceptives; conversely, oral contraceptives can markedly lower the blood levels of antiepileptic drugs. According to the most recent studies, the risk of congenital malformations and spontaneous abortions is 1% to 2% in the normal population and 3% to 9% in the offspring of women with epilepsy who are taking antiepileptic drugs. Women with epilepsy who want to have children are currently advised to take folic acid prophylactically starting before conception and until the end of the first trimester. New mothers with epilepsy are advised to breastfeed their children. Proper treatment and counseling of women with epilepsy, with due attention to aspects that are specific to women patients, can reduce the limitations to which they are subject in everyday life.

  19. Attention deficits in children with epilepsy: Preliminary findings.

    Science.gov (United States)

    Gascoigne, Michael B; Smith, Mary Lou; Barton, Belinda; Webster, Richard; Gill, Deepak; Lah, Suncica

    2017-02-01

    Attention difficulties are a common clinical complaint among children with epilepsy. We aimed to compare a range of attentional abilities between groups of children with two common epilepsy syndromes, Temporal Lobe Epilepsy (TLE) and Idiopathic Generalized Epilepsy (IGE), and to healthy controls. We also investigated whether epilepsy factors (laterality of seizure focus, epilepsy onset, duration, and severity) were related to attentional abilities. Multiple dimensions of attention (selective, sustained, and divided attention and attentional control) were assessed directly with standardized neuropsychological measures in 101 children aged 6-16years (23 children with TLE, 20 with IGE and 58 healthy controls). Attention was also assessed indirectly, via a parent-report measure. Children with TLE performed worse than children with IGE (p=0.013) and healthy controls (pattentional control, but no between-group differences were apparent on tests of other attentional abilities. Compared to healthy controls, greater attention problems were reported by parents of children with TLE (p=0.006) and IGE (p=0.012). Left-hemisphere seizure focus and greater epilepsy severity were associated with poorer attentional control and sustained-divided attention, respectively, but no other epilepsy factors were associated with attentional abilities. These findings suggest that children with localization-related epilepsy, but not generalized epilepsy, may be at risk of deficits in attentional control. Interventions aimed at improving attentional control may be targeted at children with localization-related epilepsy, particularly those with a left-hemisphere seizure focus, who appear to be particularly susceptible to this type of attentional deficit. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. The genetics of the epilepsies.

    Science.gov (United States)

    El Achkar, Christelle M; Olson, Heather E; Poduri, Annapurna; Pearl, Phillip L

    2015-07-01

    While genetic causes of epilepsy have been hypothesized from the time of Hippocrates, the advent of new genetic technologies has played a tremendous role in elucidating a growing number of specific genetic causes for the epilepsies. This progress has contributed vastly to our recognition of the epilepsies as a diverse group of disorders, the genetic mechanisms of which are heterogeneous. Genotype-phenotype correlation, however, is not always clear. Nonetheless, the developments in genetic diagnosis raise the promise of a future of personalized medicine. Multiple genetic tests are now available, but there is no one test for all possible genetic mutations, and the balance between cost and benefit must be weighed. A genetic diagnosis, however, can provide valuable information regarding comorbidities, prognosis, and even treatment, as well as allow for genetic counseling. In this review, we will discuss the genetic mechanisms of the epilepsies as well as the specifics of particular genetic epilepsy syndromes. We will include an overview of the available genetic testing methods, the application of clinical knowledge into the selection of genetic testing, genotype-phenotype correlations of epileptic disorders, and therapeutic advances as well as a discussion of the importance of genetic counseling.

  1. Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1.

    Science.gov (United States)

    Giráldez, Beatriz G; Guerrero-López, Rosa; Ortega-Moreno, Laura; Verdú, Alfonso; Carrascosa-Romero, M Carmen; García-Campos, Óscar; García-Muñozguren, Susana; Pardal-Fernández, José Manuel; Serratosa, José M

    2015-03-01

    Spinal muscular atrophy and progressive myoclonic epilepsy (SMAPME, OMIM#159950) is a rare autosomal recessive disorder characterized by the combination of progressive myoclonic epilepsy and muscular weakness due to lower motor neuron disease. Mutations in ASAH1, previously associated only to Farber disease, have been recently described in seven patients with SMAPME. A homozygous c.125C>T mutation was initially found in six patients with a clinical homogeneous phenotype. A heterozygous compound mutation found in an additional patient has broadened the clinical and genetic spectrum of clinical SMAPME. We report a new case of a 13-year-old girl with SMAPME with the homozygous ASAH1 c.125C>T mutation, unique in that it is due to paternal uniparental disomy. She experienced muscle weakness from the age of three due to lower motor neuron involvement that lead to severe handicap and onset in late childhood of a progressive myoclonic epilepsy. This clinical picture fully overlaps with that of previously reported patients with this mutation and supports our view that the clinical phenotype associated with the homozygous c.125C>T mutation constitutes a clinically homogenous and recognizable disease.

  2. 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...

  3. Epidemiology of idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Ley B

    2013-11-01

    Full Text Available Brett Ley, Harold R Collard Department of Medicine, Division of Pulmonary and Critical Care Medicine, University of California San Francisco, San Francisco, California, USA Abstract: Idiopathic pulmonary fibrosis is a chronic fibrotic lung disease of unknown cause that occurs in adults and has a poor prognosis. Its epidemiology has been difficult to study because of its rarity and evolution in diagnostic and coding practices. Though uncommon, it is likely underappreciated both in terms of its occurrence (ie, incidence, prevalence and public health impact (ie, health care costs and resource utilization. Incidence and mortality appear to be on the rise, and prevalence is expected to increase with the aging population. Potential risk factors include occupational and environmental exposures, tobacco smoking, gastroesophageal reflux, and genetic factors. An accurate understanding of its epidemiology is important, especially as novel therapies are emerging. Keywords: idiopathic pulmonary fibrosis, epidemiology, incidence, prevalence, mortality, risk factors

  4. Abnormal glomerular basement membrane in idiopathic multicentric osteolysis

    NARCIS (Netherlands)

    Bakker, SJL; Vos, GD; Verschure, PDMM; Mulder, AH; Tiebosch, TMG

    1996-01-01

    The primary cause of nephropathy in idiopathic multicentric osteolysis is as yet unknown. We report a young girl with idiopathic multicentric osteolysis and nephropathy. An abnormal glomerular basement membrane was the only abnormality found in a renal biopsy taken 2 years before the development of

  5. Idiopathic scoliosis; a biomechanical and functional anatomical study.

    NARCIS (Netherlands)

    Veldhuizen, Albert Gerrit

    1985-01-01

    Although many types of causes of scoliosis are known, the idiopathic variety comprises the largest group and as its name indicates, its a etiology is unknown. Idiopathics coliosis develops in a previously normal vertebral column and has been recognized as an entity for more than a century.

  6. Predictors of and attitudes toward counseling about SUDEP and other epilepsy risk factors among Austrian, German, and Swiss neurologists and neuropediatricians

    National Research Council Canada - National Science Library

    Strzelczyk, Adam; Zschebek, Gerda; Bauer, Sebastian; Baumgartner, Christoph; Grond, Martin; Hermsen, Anke; Kieslich, Matthias; Krämer, Günter; Kurlemann, Gerhard; May, Theodor W; Mayer, Thomas; Neubauer, Bernd A; Pfäfflin, Margarete; Plecko, Barbara; Ryvlin, Philippe; Schubert‐Bast, Susanne; Stefan, Hermann; Trinka, Eugen; Knake, Susanne; Seifart, Carola; Rosenow, Felix

    2016-01-01

    ... measures Among people with epilepsy, sudden unexpected death in epilepsy (SUDEP) remains the leading disease‐related cause of mortality and has received increasing attention from the epilepsy community. The incidence of SUDEP is highest among patients with refractory epilepsy and those who are epilepsy surgery candidates, with up to 9.3/1,000 person‐years. T...

  7. 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...

  8. A Dutch family with 'familial cortical tremor with epilepsy' - Clinical characteristics and exclusion of linkage to chromosome 8q23.3-q24.1

    NARCIS (Netherlands)

    van Rootselaar, F; Callenbach, PMC; Hottenga, JJ; Vermeulen, FLMG; Speelman, HD; Brouwer, OF; Tijssen, MAJ

    Objectives To describe the clinical characteristics of a large Dutch family with cortical tremor with epilepsy (FCTE) and to test for genetic linkage of FCTE to chromosome 8q23.3-q24.1. Background FCTE is an idiopathic generalised epilepsy of adult onset with autosomal dominant inheritance. It is

  9. Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

    DEFF Research Database (Denmark)

    Chioza, Barry A; Aicardi, Jean; Aschauer, Harald;

    2009-01-01

    Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is well recognised but the mechanism of inheritance...

  10. Monocarboxylate transporters in temporal lobe epilepsy

    DEFF Research Database (Denmark)

    Lauritzen, Fredrik; Eid, Tore; Bergersen, Linda H

    2013-01-01

    Epilepsy is a serious neurological disorder that affects approximately 1 % of the general population, making it one of the most common disorders of the central nervous system. Furthermore, up to 40 % of all patients with epilepsy cannot control their seizures with current medications. More...... efficacious treatments for medication refractory epilepsy are therefore needed. A better understanding of the mechanisms that cause this disorder is likely to facilitate the discovery of such treatments. Impairment in cerebral energy metabolism has been proposed as a possible causative factor...... in the pathogenesis of temporal lobe epilepsy (TLE), which is one of the most common types of medication-refractory epilepsies in adults. In this review, we will discuss some of the current hypotheses regarding the possible causal relationship between brain energy metabolism and TLE. Emphasis will be placed...

  11. Obtaining genetic testing in pediatric epilepsy.

    Science.gov (United States)

    Ream, Margie A; Patel, Anup D

    2015-10-01

    The steps from patient evaluation to genetic diagnosis remain complicated. We discuss some of the genetic testing methods available along with their general advantages and disadvantages. We briefly review common pediatric epilepsy syndromes with strong genetic association and provide a potentially useful algorithm for genetic testing in drug-resistant epilepsy. We performed an extensive literature review of available information as it pertains to genetic testing and genetics in pediatric epilepsy. If a genetic disorder is suspected as the cause of epilepsy, based on drug resistance, family history, or clinical phenotype, timely diagnosis may reduce overall cost, limit the diagnostic odyssey that can bring much anxiety to families, improve prognostic accuracy, and lead to targeted therapy. Interpretation of complicated results should be performed only in collaboration with geneticists and genetic counselors, unless the ordering neurologist has a strong background in and understanding of genetics. Genetic testing can play an important role in the care provided to patients with epilepsy.

  12. Dendritic ion channelopathy in acquired epilepsy

    Science.gov (United States)

    Poolos, Nicholas P.; Johnston, Daniel

    2012-01-01

    Summary Ion channel dysfunction or “channelopathy” is a proven cause of epilepsy in the relatively uncommon genetic epilepsies with Mendelian inheritance. But numerous examples of acquired channelopathy in experimental animal models of epilepsy following brain injury have also been demonstrated. Our understanding of channelopathy has grown due to advances in electrophysiology techniques that have allowed the study of ion channels in the dendrites of pyramidal neurons in cortex and hippocampus. The apical dendrites of pyramidal neurons comprise the vast majority of neuronal surface membrane area, and thus the majority of the neuronal ion channel population. Investigation of dendritic ion channels has demonstrated remarkable plasticity in ion channel localization and biophysical properties in epilepsy, many of which produce hyperexcitability and may contribute to the development and maintenance of the epileptic state. Here we review recent advances in dendritic physiology and cell biology, and their relevance to epilepsy. PMID:23216577

  13. AN AYURVEDIC INSIGHT TOWARDS EPILEPSY

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    Singh Karam

    2012-10-01

    Full Text Available In Ayurveda, Mental disorders and psychological temperaments have been broadly described [e.g. vata vyadhi (nervous disorders, unmada (insanity, murccha, moha (loss of consciousness, vismriti (amnesia, apasmara (epilepsy etc.]. In Ayurveda, Apasmara (or epilepsy has been described among the maharoga (a group of eight diseases well-known for causing serious morbidity. In the Ayurvedic texts, Apasmara (Epilepsy is defined as sudden abhorrent bodily activities (vibhatsa-cheshta accompanied by momentary blackouts or loss of consciousness (tama-pravesha owing to disturbance in mental faculties of dhi (intelligence, dhriti (retention and smriti (memory. Epilepsy is a major public health problem all over world. The estimated proportion of the general population with active epilepsy (i.e. continuing seizures or the need for treatment at a given time ranges from 4-10 per 1,000 people. Herbal remedies have been recommended in various medical treatises for the cure of different diseases. In this regard, there is great prospective for identifying excellent Ayurvedic components or its active principles, particularly in consideration of the fact that such substances may provide maximum advantage with cost effectiveness, least side effects, and improvement of patient compliance.

  14. Epilepsy, physical activity and sports

    Directory of Open Access Journals (Sweden)

    Carrizosa-Moog, Jaime

    2017-01-01

    Full Text Available People with epilepsy are prone to be sedentary compared with the general population. The causes of inactivity are ignorance, prejudice, overprotection, fear and shame. There is no scientific evidence supporting a limitation of physical exercise in persons with epilepsy. The benefits of exercise in these patients are huge. Positive aspects are: physical conditioning, prevention of seizures, emotional wellbeing, social interaction, drug treatment adherence, osteoporosis prevention and better quality of life for patients and their families. Having in mind the individual characteristics, physical exercise should be prescribed and guided. Available evidence underlies the complementary therapeutic effects of physical activity with large positive results at a low cost. Sports or regular physical activity should be a standard indication for persons with epilepsy.

  15. The voltage-sensing domain of kv7.2 channels as a molecular target for epilepsy-causing mutations and anticonvulsants

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    Francesco eMiceli

    2011-02-01

    Full Text Available Understanding the molecular mechanisms underlying voltage-dependent gating in voltage-gated ion channels (VGICs has been a major effort over the last decades. In recent years, changes in the gating process have emerged as common denominators for several genetically-determined channelopathies affecting heart rhythm (arrhythmias, neuronal excitability (epilepsy, pain or skeletal muscle contraction (periodic paralysis. Moreover, gating changes appear as the main molecular mechanism by which several natural toxins from a variety of species affect ion channel function.In this work, we describe the pathophysiological and pharmacological relevance of the gating process in voltage-gated K+ channels encoded by the Kv7 gene family. After reviewing the current knowledge on the molecular mechanisms and on the structural models of voltage-dependent gating in VGICs, we describe the physiological relevance of these channels, with particular emphasis on those formed by Kv7.2-5 subunits having a well-established role in controlling neuronal excitability in humans. In fact, genetically-determined alterations in Kv7.2 and Kv7.3 genes are responsible for benign familial neonatal convulsions, a rare seizure disorder affecting newborns, and the pharmacological activation of Kv7.2/3 channels can exert antiepileptic activity in humans. Both mutation-triggered channel dysfunction and drug-induced channel activation can occur by impeding or facilitating, respectively, channel sensitivity to membrane voltage and can affect overlapping molecular sites within the voltage-sensing domain of these channels. Thus, understanding the molecular steps involved in voltage-sensing in Kv7 channels will allow to better define the pathogenesis of rare human epilepsy, and to design innovative pharmacological strategies for the treatment of epilepsies and, possibly, other human diseases characterized by neuronal hyperexcitability.

  16. Analytic information processing style in epilepsy patients.

    Science.gov (United States)

    Buonfiglio, Marzia; Di Sabato, Francesco; Mandillo, Silvia; Albini, Mariarita; Di Bonaventura, Carlo; Giallonardo, Annateresa; Avanzini, Giuliano

    2017-08-01

    Relevant to the study of epileptogenesis is learning processing, given the pivotal role that neuroplasticity assumes in both mechanisms. Recently, evoked potential analyses showed a link between analytic cognitive style and altered neural excitability in both migraine and healthy subjects, regardless of cognitive impairment or psychological disorders. In this study we evaluated analytic/global and visual/auditory perceptual dimensions of cognitive style in patients with epilepsy. Twenty-five cryptogenic temporal lobe epilepsy (TLE) patients matched with 25 idiopathic generalized epilepsy (IGE) sufferers and 25 healthy volunteers were recruited and participated in three cognitive style tests: "Sternberg-Wagner Self-Assessment Inventory", the C. Cornoldi test series called AMOS, and the Mariani Learning style Questionnaire. Our results demonstrate a significant association between analytic cognitive style and both IGE and TLE and respectively a predominant auditory and visual analytic style (ANOVA: p values <0,0001). These findings should encourage further research to investigate information processing style and its neurophysiological correlates in epilepsy. Copyright © 2017 Elsevier Inc. All rights reserved.

  17. Video game epilepsy.

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    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.

  18. 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.

  19. [Eponyms and epilepsy (history of Eastern civilizations)].

    Science.gov (United States)

    Janković, S M; Sokić, D V; Lević, Z M; Susić, V; Drulović, J; Stojsavljević, N; Veskov, R; Ivanus, J

    1996-01-01

    considered as life threatening events. Persian history of epilepsy, except from the 6th century Zoroastrian "Avesta" document, lacks the written or spoken medical heritage untill the 7th century A.D. and the Arabic conquest of the entire Moslem world. On the other hand, Islamic medicine should be freed from the simple prejudice that the Moslem authors were only the translators of Greek medicine; contrary to such a view, their work contains a high degree of individuality. Although Mohammed introduced a lot of novelty into medicine, Khoran and the Sayings do not explicitly refer to epilepsy. Of importance is to notice that Moslem medicine did not have demons in the "repertoire" of direct causes of epilepsy. The causes and the cures of epilepsy were more magic-mystical and occult in nature, which is reminiscent of the European, as well as Serbian Middle age attitudes. Avicenna recognized difference between children and adult epilepsy. He considered insomnia and afternoon siesta as well as intensive sounds and light to be a provocative factors, whereby we see that at least empirically he knew of sleep (deprivation), startle and reflex epilepsy. The XIII century invasion of Mongols brought about the recession in Moslem Medicine; it recovered only in the XVIII century under the strong influence of European medicine handed over to us through Jewish doctors of various nationalities. The story of the China history of epilepsy has its debut approximately in the 8th century B. C. Medical texts from this period name epilepsy "Dian" and "Xian" which meant "the falling sickness" and "convulsions", respectively. Chinese medical terminology often interchangeably used the words "mania", "madness" and "psychosis" for "epilepsy" which, aside from a prominent language barrier, brings additional confusion. Although Chinese documents gave the first description of the grand mal epileptic attack already in the 8th century B. C. (ABSTRACT TRUNCATED)

  20. Management in refractory epilepsy: Beyond epilepsy surgery...

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    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.

  1. Recognizing and preventing epilepsy-related mortality: A call for action.

    Science.gov (United States)

    Devinsky, Orrin; Spruill, Tanya; Thurman, David; Friedman, Daniel

    2016-02-23

    Epilepsy is associated with a high rate of premature mortality from direct and indirect effects of seizures, epilepsy, and antiseizure therapies. Sudden unexpected death in epilepsy (SUDEP) is the second leading neurologic cause of total lost potential life-years after stroke, yet SUDEP may account for less than half of all epilepsy-related deaths. Some epilepsy groups are especially vulnerable: individuals from low socioeconomic status groups and those with comorbid psychiatric illness die more often than controls. Despite clear evidence of an important public health problem, efforts to assess and prevent epilepsy-related deaths remain inadequate. We discuss factors contributing to the underestimation of SUDEP and other epilepsy-related causes of death. We suggest the need for a systematic classification of deaths directly due to epilepsy (e.g., SUDEP, drowning), due to acute symptomatic seizures, and indirectly due to epilepsy (e.g., suicide, chronic effects of antiseizure medications). Accurately estimating the frequency of epilepsy-related mortality is essential to support the development and assessment of preventive interventions. We propose that educational interventions and public health campaigns targeting medication adherence, psychiatric comorbidity, and other modifiable risk factors may reduce epilepsy-related mortality. Educational campaigns regarding sudden infant death syndrome and fires, which kill far fewer Americans than epilepsy, have been widely implemented. We have done too little to prevent epilepsy-related deaths. Everyone with epilepsy and everyone who treats people with epilepsy need to know that controlling seizures will save lives.

  2. 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

  3. Adolescent Idiopathic Scoliosis

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    Safak Ekinci

    2014-06-01

    Full Text Available Scoliosis is called idiopathic when no other underlying disease can be identified. The etiology of adolescent idiopathic scoliosis (AIS is still unknown despite many years of research effort. Theories on AIS's etiology have included mechanical, hormonal, metabolic, neuromuscular, growth, and genetic abnormalities. Skeletally immature patients with adolescent idiopathic scoliosis are at risk of curve progression. The adolescent onset of severe idiopathic scoliosis has traditionally been evaluated using standing posteroanterior radiographs of the full spine to assess lateral curvature with the Cobb method. Scoliosis in children of school age and above primarily occurs in girls. The therapeutic goal in children is to prevent progression. In children, scoliosis of 20 and deg; or more should be treated with a brace, and scoliosis of 45 and deg; or more with surgery. [Arch Clin Exp Surg 2014; 3(3.000: 174-182

  4. Surgery for childhood epilepsy

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    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.

  5. 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.

  6. 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

  7. Accelerated cognitive decline in a rodent model for temporal lobe epilepsy

    NARCIS (Netherlands)

    Schipper, Sandra; Aalbers, Marlien W.; Rijkers, Kim; Lagiere, Melanie; Bogaarts, Jan G.; Blokland, Arjan; Klinkenberg, Sylvia; Hoogland, Govert; Vles, Johan S. H.

    2016-01-01

    Objective: Cognitive impairment is frequently observed in patients with temporal lobe epilepsy. It is hypothesized that cumulative seizure exposure causes accelerated cognitive decline in patients with epilepsy. We investigated the influence of seizure frequency on cognitive decline in a rodent

  8. Clinical variants of idiopathic torsion dystonia.

    Science.gov (United States)

    Fahn, S

    1989-06-01

    Some patients with dystonic movements and postures not known to be caused by environmental or degenerative disorders can be segregated from classical-appearing idiopathic torsion dystonia on the basis of distinctive clinical and pharmacologic features. Many of them should be considered within the family of dystonia, as clinical variants of idiopathic torsion dystonia, while others are better classified as being part of other families of dyskinesias. In the former group are paradoxical dystonia, myoclonic dystonia, diurnal dystonia, and dopa-responsive dystonia. The latter group consists of dystonic tics and the various entities comprising paroxysmal dystonia, namely kinesigenic, nonkinesigenic and hypnogenic dystonia.

  9. An unusual case of idiopathic gingival fibromatosis

    Directory of Open Access Journals (Sweden)

    Vikender S Yadav

    2013-01-01

    Full Text Available Idiopathic gingival fibromatosisis, a condition of undetermined cause can develop as an isolated disorder, but mostly it is associated with some syndrome. It usually begins at the time of eruption of permanent teeth but can develop with the eruption of deciduous dentition and rarely present at birth. This case report describes an unusual case of non-syndromic generalized idiopathic gingival fibromatosis in a 15-year-old male present since birth. Surgical treatment in the form of ledge and wedge procedure with internal bevel gingivectomy was performed. No recurrence of enlargement was seen after 2 years of follow-up.

  10. Capsaicin in Idiopathic Rhinitis A Hot Topic

    NARCIS (Netherlands)

    J.B. van Rijswijk

    2005-01-01

    textabstractIn chapter I the currently known causes for nonallergic noninfectious rhinitis and possible treatments are summarised. Also possible pathophysiological mechanisms underlying idiopathic rhinitis (IR) are discussed. In chapter II the aims of the studies are presented. This thesis comprises

  11. Idiopathic hepatic arterial malformation: a case report

    Institute of Scientific and Technical Information of China (English)

    郑蔚巍; 周康荣; 王佩芬; 陈祖望

    2003-01-01

    @@ Hepatic arterial malformation is a rare disorder which either origi nates idiopathically or may be associated with hereditary hemorrhagic telangiect asia (also known as Osler-Weber-Rendu disease). Although previous reports presented only descriptions of sonographic and angiographic findings,1-6 we present a case of splenic infarct caused by this disorder with CT and CTA findi ngs.

  12. Idiopathic first seizure in adult life

    NARCIS (Netherlands)

    C.A. van Donselaar (Cees)

    1990-01-01

    textabstractThis thesis is based on a prospective investigation of 226 patients aged 15 years and older, who were referred to one of the participating hospitals due to a possible idiopathic first seizure. Only those patients were admitted to the study in whom an obvious cause on clinical grounds

  13. Etiology and pathogenesis of adolescent idiopathic scoliosis

    NARCIS (Netherlands)

    Schlösser, Tom P C; Colo, Dino; Castelein, RM

    2015-01-01

    Despite many years of dedicated research into the etio-pathogenesis, not one single cause for adolescent idiopathic scoliosis has been identified. The purpose of this review is to give a comprehensive overview of the current evidence and main etiological theories. Intrinsic causal mechanisms are fou

  14. [Idiopathic pulmonary hemosiderosis with dendriform pulmonary ossification].

    Science.gov (United States)

    Barrera, Ana Madeleine; Vargas, Leslie

    2016-12-01

    Pulmonary ossification is a rare and usually asymptomatic finding reported as incidental in lung biopsies. Similarly, idiopathic pulmonary hemosiderosis is a rare cause of pulmonary infiltrates. We report the case of a 64-year old man with chronic respiratory symptoms in whom these two histopathological findings converged.

  15. Vitamin A and Idiopathic Intracranial Hypertension

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2002-11-01

    Full Text Available Vitamin A levels were measured in the cerebrospinal fluid of a total of 78 patients having idiopathic intracranial hypertension (IIH;n=20, elevated pressure of other causes (E-ICP;n=19, and normal pressure (N-ICP;n=39, in a study at the University of Utah, Salt Lake City, UT.

  16. Idiopathic intracranial hypertension is not benign

    DEFF Research Database (Denmark)

    Yri, Hanne M; Wegener, Marianne; Sander, Birgit

    2012-01-01

    Idiopathic intracranial hypertension (IIH) primarily affects young obese females, and potentially causes visual loss and severe headache. The aim of this experiment is to examine relapse rate and long-term outcome in IIH patients. The methods involved in this experiment include a prospective...

  17. Etiology and pathogenesis of adolescent idiopathic scoliosis

    NARCIS (Netherlands)

    Schlösser, Tom P C; Colo, Dino; Castelein, RM

    2015-01-01

    Despite many years of dedicated research into the etio-pathogenesis, not one single cause for adolescent idiopathic scoliosis has been identified. The purpose of this review is to give a comprehensive overview of the current evidence and main etiological theories. Intrinsic causal mechanisms are

  18. Idiopathic Circumscripta Calcinosis Cutis of the Fingers

    Directory of Open Access Journals (Sweden)

    Ömer Çalka

    2013-05-01

    Full Text Available Calcinosis cutis is an uncommon disorder characterized by deposition of insoluble calcium salts in the skin. Based on the etiology of the deposition calcinosis cutis may be devided into four major groups namely metastatic, dystrophic, idiopathic, and iatrogenic. The pathophysiology of calcinosis cutis remains unclear. The dystrophic form is the most common whereas the idiopathic one is the rarest. Idiopathic calcinosis cutis occurs in the absence of any identifiable causes and is not associated with drug use. Idiopathic calcinosis cutis has two major types called localized (circumscript and generalized (universalis. Localized type generally involves the vulva, scrotum, penis and breast. A definitive diagnosis requires the histologic demonstration of the accumulation of calcium in the skin and exclusion of other clinic types.There is not an effective treatment for the disease. A 47-year-old woman referred to our outpatient clinic for painless, yellowish-white nodules on her hand enduring for 30 years. A diagnosis of idiopathic calcinosis cutis was made by clinical and histological findings. We present this case because localization of lesions in our case was previously unreported in the literature to our knowledge.

  19. CLINICAL HISTORY AND OUTCOME OF 59 PATIENTS WITH IDIOPATHIC HYPERPROLACTINEMIA

    NARCIS (Netherlands)

    SLUIJMER, AV; LAPPOHN, RE

    1992-01-01

    Objective: To investigate the clinical course of hyperprolactinemia without demonstrable cause. Design: Prospective study of all patients with idiopathic hyperprolactinemia first seen between 1974 and 1985. Setting: Outpatient Department of University Hospital. Patients: Fifty-nine patients followed

  20. Stature and idiopathic scoliosis. A prospective study.

    Science.gov (United States)

    Archer, I A; Dickson, R A

    1985-03-01

    A study of 130 scoliotic children with curves measuring 10 degrees or more has been performed in order to elucidate the importance of stature, growth and development. Girls with adolescent idiopathic curves measuring 15 degrees or more were taller than girls with smaller idiopathic curves and taller than those whose scoliosis was secondary to leg-length inequality (pelvic tilt scoliosis). No differences were observed as regards growth velocity or development. The increased standing height may be genetic but the uncoiling effect of the normal kyphosis to give a flat lateral profile is a more likely cause. The familial trend in idiopathic scoliosis may therefore be explained by the genetically determined shape of the spine in the median (sagittal) plane.

  1. [Dentistry and epilepsy].

    Science.gov (United States)

    Pick, L; Bauer, J

    2001-12-01

    Epileptic seizures are the third most common medical incident in dental surgeries. Dentists should ask patients about a history of epilepsy and should know how to manage an epileptic seizure. Falls caused by seizures increase the risk of dental injuries, and fixed dental replacements (e.g., tooth implants) are recommended to reduce the risk of aspiration. Phenytoin induces gingival hyperplasia in 50% to 60% of patients, treatment options include a switch to alternative anticonvulsant drugs and improved dental hygiene. In addition to conventional dental care, the use of electric toothbrushes and the application of chlorhexidine and regular professional dental cleaning may prevent the development of gingival hyperplasia. Local anaesthetic agents without added adrenalin should be chosen (e.g., Mepivacain and Articain). There are case reports of reflex epileptic seizures caused by (prolonged) brushing of teeth.

  2. The Lombrosian prejudice in medicine. The case of epilepsy. Epileptic psychosis. Epilepsy and aggressiveness.

    Science.gov (United States)

    Granieri, Enrico; Fazio, Patrik

    2012-02-01

    In the nineteenth century, epilepsy became subject of experimental research. Lombroso established a relationship between epilepsy and criminality believing in the existence of epileptoid traits and atavism. He tried to demonstrate the common origin of epilepsy, criminality, and genius; factors deteriorating the CNS would act upon centers, which control behavior and ethics. This impairment would cause a lack of control on the lower nervous centers, reducing restraints of instincts and criminal behavior. He described developmental frontal cortex lesions in epileptic patients (today Taylor's dysplasia) and these observations supported the erroneous conviction of a relationship between criminality and epilepsy. Neurological, behavioral, and criminological sciences analyzed Lombroso's doctrine, whereas it was controversial that epileptic patients should be prone to violent actions and aggressive behavior. Today, there is an international panel of experts on epilepsy, which suggests five relevant criteria to determine if a crime committed with aggressiveness could result from epileptic seizures.

  3. Idiopathic non-specific interstitial pneumonia.

    Science.gov (United States)

    Belloli, Elizabeth A; Beckford, Rosemarie; Hadley, Ryan; Flaherty, Kevin R

    2016-02-01

    Non-specific interstitial pneumonia (NSIP) is an interstitial lung disease that may be idiopathic or secondary to connective tissue disease, toxins or numerous other causes. Idiopathic NSIP is a rare diagnosis and requires exclusion of these other possible causes. Patients typically present in mid-adulthood with dyspnoea, cough and often constitutional symptoms including fever and fatigue. The disease has a female predominance, and more than 50% of patients have never smoked. Physical exam features mild hypoxaemia and inspiratory rales. Pulmonary function tests demonstrate restriction and a low diffusing capacity for carbon monoxide. High-resolution computed tomography abnormalities include predominantly lower lobe subpleural reticular changes, traction bronchiectasis and ground-glass opacities; honeycombing is rarely seen. An evaluation of the underlying pathology is necessary for a firm diagnosis. Histologically, alveolar and interstitial mononuclear cell inflammation and fibrosis are seen in a temporally uniform pattern with preserved underlying alveolar architecture. NSIP must be differentiated from other parenchymal lung diseases including idiopathic pulmonary fibrosis and hypersensitivity pneumonitis. A thorough exposure history and assessment for underlying connective tissue diseases are highly important, as positive findings in these categories would likely denote a case of secondary NSIP. A multi-disciplinary discussion that includes pulmonologist(s), radiologist(s) and pathologist(s) assists in reaching a consensus diagnosis and improves diagnostic accuracy. Treatment of idiopathic NSIP, although not well proven, is generally instituted in the form of immunosuppression. Prognosis is favourable compared with idiopathic pulmonary fibrosis, although the diagnosis still carries an attributable mortality. Herein we will summarize the clinical characteristics and management of idiopathic NSIP.

  4. A cohort study of epilepsy among 665,000 insured dogs

    DEFF Research Database (Denmark)

    Heske, L.; Nødtvedt, A.; Jäderlund, K. Hultin

    2014-01-01

    The main objective of this study was to estimate the incidence and mortality rates of epilepsy in a large population of insured dogs and to evaluate the importance of a variety of risk factors. Survival time after a diagnosis of epilepsy was also investigated. The Swedish animal insurance database...... used in this study has previously been helpful in canine epidemiological investigations. More than 2,000,000 dog-years at-risk (DYAR) were available in the insurance database. In total, 5013 dogs had at least one veterinary care claim for epilepsy, and 2327 dogs were euthanased or died because...... of epilepsy. Based on veterinary care claims the incidence rate of epilepsy (including both idiopathic and symptomatic cases) was estimated to be 18 per 10,000 DYAR. Dogs were followed up until they were 10 (for life insurance claims) or 12 years of age (veterinary care claims). Among the 35 most common...

  5. 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.

  6. 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...

  7. Molecular Correlates of Age-Dependent Seizures in an Inherited Neonatal-Infantile Epilepsy

    Science.gov (United States)

    Liao, Yunxiang; Deprez, Liesbet; Maljevic, Snezana; Pitsch, Julika; Claes, Lieve; Hristova, Dimitrina; Jordanova, Albena; Ala-Mello, Sirpa; Bellan-Koch, Astrid; Blazevic, Dragica; Schubert, Simone; Thomas, Evan A.; Petrou, Steven; Becker, Albert J.; De Jonghe, Peter; Lerche, Holger

    2010-01-01

    Many idiopathic epilepsy syndromes have a characteristic age dependence, the underlying molecular mechanisms of which are largely unknown. Here we propose a mechanism that can explain that epileptic spells in benign familial neonatal-infantile seizures occur almost exclusively during the first days to months of life. Benign familial…

  8. Oxcarbazepine-induced myoclonic status epilepticus in juvenile myoclonic epilepsy.

    Science.gov (United States)

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

    2013-06-01

    Juvenile myoclonic epilepsy (JME) is a frequent idiopathic generalised epilepsy syndrome with typical clinical and EEG features that can usually be controlled by valproate monotherapy. JME may be underdiagnosed or misdiagnosed; in the latter case, it may be mistaken for partial epilepsy. The incorrect diagnosis of JME is likely to result in inappropriate therapy, which may, in turn, worsen the seizures. While a number of studies have documented that carbamazepine aggravates idiopathic generalised epilepsy, few have shown a worsening of symptoms following the administration of oxcarbazepine (OXC). We report the case of a 44-year-old male affected by JME in which the inappropriate use of OXC precipitated a dramatic worsening of myoclonic seizures. In this case, video-EEG monitoring documented myoclonic status epilepticus with positive and negative myoclonus, correlating with repetitive, continuous, rhythmic, generalised polyspike-and-wave discharges. This is the first case of myoclonic status epilepticus induced by OXC in a patient with JME which is clearly documented by video-EEG. A review of the literature with regards to OXC-induced worsening of seizures is also presented. [Published with video sequences].

  9. CLINICAL AND ELECTROENCEPHALOGRAPHIC CHANGES IN JUVENILE MYOCLONIC EPILEPSY (A LECTURE

    Directory of Open Access Journals (Sweden)

    K. Yu. Mukhin

    2014-01-01

    Full Text Available Juvenile myoclonic epilepsy (JME is a form of idiopathic generalized epilepsy characterized by adolescent onset with massive myoclonicseizures and, in most cases, convulsive seizures occurring mainly on awakening. According to the Proposed Diagnostic Schema for Peoplewith Epileptic Seizures and with Epilepsy (2001, JME is classified into a group of idiopathic generalized epilepsy with a variable phenotype. The authors give the genetic bases of the disease, describe its clinical picture in detail, including the atypical course of JME, and consider diagnostic criteria, approaches to patient management, and principles of medical therapy. By taking into account the most common precipitating factors, along with drug therapy, the sleep and wake regimen must be strictly adhered to and household photo stimulation be avoided. Complete medical remission is achieved in about 90 % of patients (on correctly chosen therapy, in most cases on monotherapy. However, the problem resides in high recurrence rates after withdrawal of antiepileptic drugs. The major predictors of increased risk for a recurrence aftertherapy discontinuation are considered.

  10. 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.

  11. 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...

  12. [The presurgical evaluation of epilepsies].

    Science.gov (United States)

    Bartolomei, F; Guye, M; Gavaret, M; Régis, J; Wendling, F; Raybaud, C; Chauvel, P

    2002-05-01

    In this article, we present an overview of the principles, practices and procedures of the presurgical evaluation of the epilepsies in use in our center and in the majority of French teams. Surgery for epilepsy is offered to patients presenting with severe epilepsy with partial seizures. Its aim is to stop the seizures, or to significantly reduce their frequency. To do that, the epileptogenic zone should theoretically be removed and/or the propagation pathways of the seizures should be cut. Discussion of these indications inevitably includes prior assessment of the functional sequels (sensory, motor, cognitive or behavioral) which surgery is liable cause. The presurgical evaluation involves a multidisciplinary approach involving epileptologists, neurophysiologists, neuroradiologists, neuropsychologists and neurosurgeons and is carried out in two phases. The phase I is based on non-invasive investigations, including functional and structural neuroimaging, neuropsychological assessment, source localization of interictal spike and video-EEG recordings of seizures. The phase II is often required and is aimed to precisely define the anatomical localization of the epileptogenic zone and the relationships with a structural lesion. This invasive phase is mainly based on stereoelectroencephalography (SEEG). Finally, the surgical procedure must be adapted according to the distribution and dynamics of the anatomical and functional abnormalities which individually define each case of epilepsy.

  13. Clinical characteristics of adult epilepsy patients in the 1997 Hong Kong epilepsy registry

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Objective To study the clinical characteristics of 2952 patients with epilepsy who had received drug treatment from the neurology outpatient clinics of eight major hospitals in Hong Kong. Methods Retrospective review of outpatient records. Results 1601 (54.3%) males and 1351 (45.7%) females with a median age of 35.8 years (range, 10-94.8) were studied. Seizure types included generalized tonic-clonic in 80.7% of patients, complex partial in 28.3%, simple partial in 14.4%, atypical absence in 2.6% and myoclonic in 1.4%, and 30.4% of patients had more than one seizure type. EEG, CT brain, MRI brain and neuropsychological evaluation were obtained in 81.2%, 61.7%, 17.0% and 2.2% of patients, respectively. The etiology of epilepsy was cryptogenic in 59.9%, symptomatic in 35.1% and idiopathic in 3.9%; the commonest were intracranial infection, cerebral vascular disease, cranial trauma and perinatal insult. Phenytoin, carbamazepine and valproate were the most frequently used drugs and 25.9% of patients were taking more than two drugs. 48.3% of patients had active seizures in the past six months and 26.4% were considered to have unsatisfactory control of their epilepsy. Medical refractoriness of epilepsy was associated with a history of perinatal insult, intracranial infection, congenital brain malformation, intracranial neoplasm, cerebral vascular disease, hippocampal sclerosis, mental retardation and a history of status epilepticus (P<0.05). Conclusion In this local cohort of adult patients with epilepsy under specialist care, there were a considerable number of patients falling into the category of cryptogenic epilepsy. Risk factors associated with medical refractoriness are similar to previous studies.

  14. Public awareness and attitudes towards epilepsy in Tehran, Iran

    Directory of Open Access Journals (Sweden)

    Helia Ghanean

    2013-12-01

    Full Text Available Background : Epilepsy is a prototypical, stigmatised disorder. Numerous studies have been conducted regarding the public perception of epilepsy, but they are primarily from high-income western countries; few studies have taken place in low- to middle-income countries with a traditional culture and a religious orientation. Objective : The public knowledge and attitudes towards epilepsy in Tehran, Iran, is studied. Design : A survey of 800 subjects ranging from 18 to 85 years was randomly chosen from households in Tehran in 2009. The questionnaire used was based on the Caveness and Gallup's studies conducted in the United States in 1949 and it has been used in numerous similar studies all over the world. The mean age of the participants was 37.5 years and 46.7% were female. Pearson's Chi-squared test was used for subgroup analyses. Results : The majority of subjects cited brain disorders as a cause of epilepsy, while 17% indicated the will of God as the cause. Most individuals were willing to work with a person with epilepsy, allow their children to play with a child with epilepsy, and allow people with epilepsy to use public transportation (78–82%. However, only 28% were willing to accept the marriage of a family member to someone with epilepsy. Conclusion : The knowledge and attitudes towards epilepsy are similar to those in Europe, with the exception of a much lower acceptance regarding marriage to a person with epilepsy. However, the low acceptance for marrying someone with epilepsy reveals the remaining misconceptions about the nature of epilepsy in Iran, despite the high educational level in the studied population. Therefore, informational efforts must be employed to change the perception of epilepsy.

  15. Atypical idiopathic inflammatory demyelinating lesions

    DEFF Research Database (Denmark)

    Wallner-Blazek, Mirja; Rovira, Alex; Fillipp, Massimo;

    2013-01-01

    Atypical lesions of a presumably idiopathic inflammatory demyelinating origin present quite variably and may pose diagnostic problems. The subsequent clinical course is also uncertain. We, therefore, wanted to clarify if atypical idiopathic inflammatory demyelinating lesions (AIIDLs) can be class...

  16. Analysis on the clinical symptoms and electroencephalograms of 100 epilepsy cases caused by cerebral cysticercus%100例脑囊尾蚴所致癫痫患者临床症状及脑电图分析

    Institute of Scientific and Technical Information of China (English)

    杨军

    2015-01-01

    Objective To study the characteristics of clinical systems and electroencephalograms in patients with epilepsy caused by cerebral cysticercus.Methods The clinical and electroencephalogram data from 100 epilepsy cases caused by cerebral cysticercus treated at Dali prefecture second people's hospital were retrospectively analyzed.The relationship between the form,frequency of epilepsy seizures and the parasitized location of cysticercus in brain as well as clinical types was then discussed.Results In a total of 100 cases,the electroencephalogram was normal in 6 cases (6%),abnormal in 94 cases (94%),among them mild abnormalities in 48 cases,moderately abnormal in 29 cases,and severe abnormalities in 17 cases.The main change in brain electroencephalogram of neurocysticercosis was the basic waves appearing paroxysmal high amplitude delta activities in a background of slow waves with moderate amplitude with deficiency of alpha waves.The electroencephalogram change process was not completely consistent with the severity of symptoms,but with the development course of the disease.Conclusion Electroencephalogram examination is of important value in the diagnosis and evaluation of curative effects of epilepsy caused by cerebral cysticercus.%目的 探讨脑囊尾蚴所致癫痫患者临床及脑电图特征. 方法 对大理州第二人民医院收治100例脑囊尾蚴所致癫痫患者的脑电图资料与临床资料进行回顾性分析.探讨癫痫发作形式、发作频率与其囊尾蚴在脑内的寄生部位、临床类型之间关系. 结果 100例患者中,6例(6%)正常,94例(94%)脑电图异常,其中48例轻度异常,29例中度异常,17例重度异常.脑囊尾蚴病患者的脑电图改变主要以基本波在各导联中的中幅慢波背景中出现阵发性高幅δ活动、α波基本缺如.脑电图改变的过程与症状的严重性并不完全一致,但与其病程的发展过程基本一致. 结论 脑电图检查对脑囊尾蚴所致癫痫的

  17. Point correlation dimension can reveal functional changes caused by gap junction blockers in the 4-aminopyridine in vivo rat epilepsy model

    Energy Technology Data Exchange (ETDEWEB)

    Jardanhazy, Anett [Department of Neurology, University of Szeged, Semmelweis u. 6, Szeged H-6725 (Hungary); Molnar, Mark [Department of Psychophysiology, Institute for Psychology of the Hungarian Academy of Sciences, P.O. Box 398, Budapest H-1394 (Hungary)], E-mail: molnar@cogpsyphy.hu; Jardanhazy, Tamas [Department of Neurology, University of Szeged, Semmelweis u. 6, Szeged H-6725 (Hungary)], E-mail: jt@nepsy.szote.u-szeged.hu

    2009-04-15

    The contribution of gap junction (GJ) blockers to seizure initiation was reexamined by means of an analysis on nonlinear dynamics with point correlation dimension (PD2i) at as well as around the primary focus, and mirror focus in an already active 4-aminopyridine-induced in vivo epilepsy model. From the data base of the ECoGs of anesthetized adult rats treated with quinine, a selective blocker of Cx36, and in combination with an additional broad-spectrum GJ blocker, carbenoxolone, 14 cases of each condition were reexamined with a stationarity insensitive nonlinear PD2i method. The blockade of the Cx36 channels decreased the usual drop of the point correlation dimension at the beginning of the seizures, and this was enhanced by the additional use of the global blocker carbenoxolone. The so-called characteristic DC shift just prior to seizure onset denotes a low dimensional seizure event and the recognizable seizures display very variable, rapidly changing dynamics, as revealed by the PD2i analysis. This nonlinear PD2i analysis demonstrated that the different GJ blockers in the already active epileptic model helped seizure initiation, but exerted inhibitory effects on the seizure onset itself, acting differently on the local components of the network organization generating seizure discharges, possibly changing the coupling strengths and time delays in the GJ-s.

  18. EPILEPSY IN ELDERLY PATIENTS (DIAGNOSTIC FEATURES

    Directory of Open Access Journals (Sweden)

    S. A. Gulyaev

    2014-01-01

    Full Text Available Physicians frequently consider that epilepsy is a disease in children and young adults; however, its incidence in elderly patients is not lower and commonly higher than those among children and young people. Among the causes of epilepsy in elderly patients, there is a predominance of acute and chronic cerebral circulatory disorders (50 % of all cases. Other causes of epilepsy (neurodegenerative processes, tumors, etc. are rarely encountered in the elderly. However, there is actually no real pattern of incidence of epilepsy in the elderly since the diversity and features of its clinical manifestations in these patients, as well as difficulties in describing their status make the diagnosis of the disease very hard in this category of patients. Seizures without loss of consciousness, which are especially associated with the development of transient muscle tone disorders and autonomic dysfunction, are commonly regarded as benign vertigo, autonomic or mental disorders. This study has indicated that the development of epilepsy in the elderly, which results from cerebrovascular and neurodegenerative pathology, is not a rare, but relatively common neurological disorder. By taking into account the aging tendency in economically developed countries, the increasing number of elderly patients with epilepsy is an important medical and economic problem that calls for in-depth investigation, timely diagnosis,and treatment.

  19. The MR detection of neuronal depolarization during 3-Hz spike-and-wave complexes in generalized epilepsy.

    Science.gov (United States)

    Liston, Adam D; Salek-Haddadi, Afraim; Kiebel, Stefan J; Hamandi, Khalid; Turner, Robert; Lemieux, Louis

    2004-12-01

    Previously, an analysis of activations observed in a patient with idiopathic generalized epilepsy using electroencephalogram-correlated functional magnetic resonance imaging (MRI) during runs of 3-Hz generalized spike-wave discharge (GSWD) was presented by Salek-Haddadi. Time-locked, bilateral, thalamic blood oxygenation level-dependent increases were reported to be accompanied by widespread, symmetric, cortical deactivation with a frontal maximum. In light of recent investigations into MRI detection of the magnetic field perturbations caused by neuronal current loops during depolarization, we revisited the analysis of the data of Salek-Haddadi as a preliminary search for a neuroelectric signal. We modeled the MRI response as the sum of a fast signal and a slower signal and demonstrated significant MRI activity at a time scale of the order of 30 ms associated with GSWDs. Further work is necessary before firm conclusions may be drawn about the nature of this signal.

  20. Male idiopathic oligoasthenoteratozoospermia

    Institute of Scientific and Technical Information of China (English)

    Giorgio Cavallini

    2006-01-01

    Idiopathic oligoasthenoteratozoospermia (iOAT) affects approximately 30% of all infertile men. This mini-review discussed recent data in this field. Age, non-inflammatory functional alterations in post-testicular organs, infective agents (Chlamydia trachomatis, herpes virus and adeno-associated viruses), alterations in gamete genome, mitochondrial alterations, environmental pollutants and "subtle" hormonal alterations are all considered possible causes of iOAT.Increase of reactive oxygen species in tubules and in seminal plasma and of apoptosis are reputed to affect sperm concentration, motility and morphology. iOAT is commonly diagnosed by exclusion, nevertheless spectral traces of the main testicular artery may be used as a diagnostic tool for iOAT. The following can be considered therapies for iOAT: 1) tamoxifen citrate (20 mg/d) + testosterone undecanoate (120 mg/d) (pregnancy rate per couple/month [prcm]:3.8%); 2) folic acid (66 mg/d) + zinc sulfate (5 mg/d); 3) L-carnitine (2 g/d) alone or in combination with acetyl-L-carnitine (1 g/d) (prcm: 2.3%); and 4) both carnitines + one 30 mg cinnoxicam suppository every 4 days (prcm: 8.5%).Alpha-blocking drugs improved sperm concentration but not morphology, motility or pregnancy rate. Tranilast (300 mg/d) increased sperm parameters and pregnancy rates in an initial uncontrolled study. Its efficacy on sperm concentration (but not on sperm motility, morphology or prcm) was confirmed in subsequent published reports. The efficacy of tamoxifen + testosterone undecanoate, tamoxifen alone, and recombinant follicle-stimulating hormone is still a matter for discussion.

  1. Male idiopathic oligoasthenoteratozoospermia.

    Science.gov (United States)

    Cavallini, Giorgio

    2006-03-01

    Idiopathic oligoasthenoteratozoospermia (iOAT) affects approximately 30% of all infertile men. This mini-review discussed recent data in this field. Age, non-inflammatory functional alterations in post-testicular organs, infective agents (Chlamydia trachomatis, herpes virus and adeno-associated viruses), alterations in gamete genome, mitochondrial alterations, environmental pollutants and "subtle" hormonal alterations are all considered possible causes of iOAT. Increase of reactive oxygen species in tubules and in seminal plasma and of apoptosis are reputed to affect sperm concentration, motility and morphology. iOAT is commonly diagnosed by exclusion, nevertheless spectral traces of the main testicular artery may be used as a diagnostic tool for iOAT. The following can be considered therapies for iOAT: 1) tamoxifen citrate (20 mg/d) + testosterone undecanoate (120 mg/d) (pregnancy rate per couple/month [prcm]: 3.8%); 2) folic acid (66 mg/d) + zinc sulfate (5 mg/d); 3) L-carnitine (2 g/d) alone or in combination with acetyl-L-carnitine (1 g/d) (prcm: 2.3%); and 4) both carnitines = one 30 mg cinnoxicam suppository every 4 days (prcm: 8.5%). Alpha-blocking drugs improved sperm concentration but not morphology, motility or pregnancy rate. Tranilast (300 mg/d) increased sperm parameters and pregnancy rates in an initial uncontrolled study. Its efficacy on sperm concentration (but not on sperm motility, morphology or prcm) was confirmed in subsequent published reports. The efficacy of tamoxifen + testosterone undecanoate, tamoxifen alone, and recombinant follicle-stimulating hormone is still a matter for discussion.

  2. Analysis on the Causes of Symptomatic Epilepsy in Elderly of Foshan%佛山地区老年症状性癫痫患者的病因构成分析

    Institute of Scientific and Technical Information of China (English)

    卢颖瑜; 王金良; 周庆昆; 巫碧佳; 黄秉文

    2014-01-01

    目的:回顾性收集佛山地区老年症状性癫痫患者的临床资料,分析患者的病因并了解病因构成。方法:收集2004年7月1日-2014年7月1日在本院就诊的老年症状性癫痫病例526例,将症状性癫痫病因按脑外伤、围产期损伤、中枢神经系统感染、脑血管疾病、脑肿瘤、脑皮质发育畸形、神经皮肤综合征和其他病因进行分类。采用非参数分析的多样本秩和检验比较癫痫家族史和热性惊厥在癫痫病因中的作用及诊断价值。结果:526例老年症状性癫痫患者中,脑血管病158例(30.0%),脑外伤95例(18.1%),中枢神经系统感染63例(12.0%),脑肿瘤56例(10.6%),围产期损伤36例(6.8%),脑皮质发育异常30例(5.7%),神经皮肤综合征12例(2.3%),其他76例(14.5%)。癫痫家族史在神经皮肤综合征比例最高,而热性惊厥在脑皮质发育畸形中最高。结论:在本研究中发现,脑血管病、脑外伤、中枢神经系统感染、脑肿瘤、围产期损伤为老年症状性癫痫最主要的病因。%Objective:To retrospectively survey and explore the common causes of symptomatic epilepsy in elderly of Foshan. Method:526 cases of elderly symptomatic epilepsy were collected in our hospital from July 2004 to July 2014,who were arranged into different categories of head trauma,perinatal injuries,infection in central nervous system,cerebral vascular disease,brain tumor,disorder of cortical development,neurocutaneous syndrome and others. The role and value of diagnosis about symptomatic epilepsy were that the ferile seizure and family history were contrasted in different categories of cases by Kruskal-Wallis test. Result:In 526 cases,158 cases were cerebral vascular disease, 95 cases were head trauma,63 cases were infection in central nervous system,56 cases were brain tumor,36 cases were perinatal injuries,30 cases were disorder of cortical development,12 cases were

  3. OCCIPITAL LOBE EPILEPSY OR MIGRAINE HEADACHE

    Directory of Open Access Journals (Sweden)

    Skrijelj Fadil E

    2016-12-01

    Full Text Available Introduction: Occipital lobe epilepsies are rarely met in clinical practice, but when they occur, they can be misdiagnosed as migraine-like headache. Their prevalence ranges from 5%to 10% of all epilepsies. Seizures can occur at any age; etiologically speaking they can be symptomatic, cryptogenic and idiopathic (most often onsetis in childhood. Clinical symptomatology is manifested by partial epileptic seizures in the sense of visual elementary and/or complex manifestations, palinopsia, amaurosis, tonic head deviation, bulbus, nistagmus and headache. Propagation discharge to neighbour areas (temporal, parietal and frontal is a frequent occurrence appearing with complex partial seizures frequently finishing with secondary generalized tonic-clonic (GTC seizures. Case report: We are presenting a17-year-old male patient who has suffered from attacks of visual problemswith headache since 10 years of age. All the time it is treated as a migraine headache. During the last attack of headache the patient also had a loss of consciousness, EEG that was performed for the first time evidenced epileptic discharges of the occipital area. The therapy also included treatment with antiepileptic drug pregabalin resulting in seizure withdrawal. Conclusion: The appearance of visual symptoms followed by headache is most frequently qualified as migraine triggered headache. However, when antimigraine therapy does not give favorable results epileptic headache should be suspected, with obligatory performance of EEG recording. Occipital lobe epilepsy often presents diagnostic dilemmas due to clinical manifestations that are similar to that of non-migraine headache.

  4. Epilepsy and restless legs syndrome.

    Science.gov (United States)

    Geyer, James D; Geyer, Emery E; Fetterman, Zachary; Carney, Paul R

    2017-03-01

    Restless legs syndrome (RLS) is a common neurological movement disorder occurring in approximately 10% of the general population. The prevalence of moderately severe RLS is 2.7% overall (3.7% for women and 1.7% for men). Epilepsy is also a common neurological disorder with significant associated morbidity and impact on quality of life. We evaluated the severity and frequency of primary RLS in patients with localization-related temporal lobe epilepsy (TLE) and investigated the role of prodromal RLS symptoms as a warning sign and lateralizing indicator. All epilepsy patients seen in the outpatient clinic were screened for movement disorders from 2005 to 2015. Ninety-eight consecutive patients with localization-related TLE (50 right TLE and 48 left TLE) who met inclusion criteria were seen in the outpatient clinic. The control group consisted of 50 individuals with no history or immediate family history of epilepsy. Each patient was evaluated with the International Restless Legs Study Group (IRLSSG) questionnaire, NIH RLS diagnostic criteria, ferritin level, and comprehensive sleep screening including polysomnography. Furthermore, patients with obstructive sleep apnea or a definite cause of secondary restless legs syndrome such as low serum ferritin or serum iron levels were also excluded from the study. There was a significant association between the type of epilepsy and whether or not patients had RLS χ(2) (1)=10.17, prestlessness was typically described as moderately severe. The RLS symptoms were more common and somewhat more severe in the right TLE group than the left TLE group. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. Anterior Cingulate epilepsy: mechanism and modulation

    Directory of Open Access Journals (Sweden)

    Bai-Chuang eShyu

    2014-01-01

    Full Text Available Epilepsy is a common neurological disorder, about 1% population worldwide suffered from this disease. In 1989, the International League Against Epilepsy (ILAE classified anterior cingulate epilepsy as a form of frontal lobe epilepsy (FLE. FLE is the second most common type of epilepsy. Previous clinical studies showed that FLE account an important cause in refractory epilepsy, therefore to find alternative approach to modulate FLE is very important. Basic research using animal models and brain slice have revealed some insights on the epileptogenesis and modulation of seizure in anterior cingulate cortex (ACC. Interneurons play an important role in the synchronization of cingulate epilepsy. Research has shown that the epileptogenesis of seizure originated from mesial frontal lobe might be caused by a selective increase in nicotine-evoked -aminobutyric acid (GABA inhibition, because the application of the GABAA receptor antagonist picrotoxin inhibited epileptic discharges. Gap junctions are also involved in the regulation of cingulate epilepsy. Previous studies have shown that the application of gap junction blockers could attenuate ACC seizures, while gap junction opener could enhance them in an in vitro preparation. -Opioid receptors have been shown to be involved in the epileptic synchronization mechanism in ACC seizures in a brain slice preparation. Application of the -Opioid agonist DAMGO significantly abolished the ictal discharges in a 4-aminopyridine (4-AP induced electrographic seizure model in ACC. Basic research has also found that thalamic modulation has an inhibitory effect on ACC seizures. Studies have shown that the medial thalamus may be a target for deep brain stimulation to cure ACC seizures.

  6. Epilepsy genetics: the ongoing revolution.

    Science.gov (United States)

    Lesca, G; Depienne, C

    2015-01-01

    Epilepsies have long remained refractory to gene identification due to several obstacles, including a highly variable inter- and intrafamilial expressivity of the phenotypes, a high frequency of phenocopies, and a huge genetic heterogeneity. Recent technological breakthroughs, such as array comparative genomic hybridization and next generation sequencing, have been leading, in the past few years, to the identification of an increasing number of genomic regions and genes in which mutations or copy-number variations cause various epileptic disorders, revealing an enormous diversity of pathophysiological mechanisms. The field that has undergone the most striking revolution is that of epileptic encephalopathies, for which most of causing genes have been discovered since the year 2012. Some examples are the continuous spike-and-waves during slow-wave sleep and Landau-Kleffner syndromes for which the recent discovery of the role of GRIN2A mutations has finally confirmed the genetic bases. These new technologies begin to be used for diagnostic applications, and the main challenge now resides in the interpretation of the huge mass of variants detected by these methods. The identification of causative mutations in epilepsies provides definitive confirmation of the clinical diagnosis, allows accurate genetic counselling, and sometimes permits the development of new appropriate and specific antiepileptic therapies. Future challenges include the identification of the genetic or environmental factors that modify the epileptic phenotypes caused by mutations in a given gene and the understanding of the role of somatic mutations in sporadic epilepsies.

  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. 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...

  9. Idiopathic pulmonary artery aneurysm.

    Science.gov (United States)

    Kotwica, Tomasz; Szumarska, Joanna; Staniszewska-Marszalek, Edyta; Mazurek, Walentyna; Kosmala, Wojciech

    2009-05-01

    Pulmonary artery aneurysm (PAA) is an uncommon lesion, which may be associated with different etiologies including congenital cardiovascular diseases, systemic vasculitis, connective tissue diseases, infections, and trauma. Idiopathic PAA is sporadically diagnosed by exclusion of concomitant major pathology. We report a case of a 56-year-old female with an idiopathic pulmonary artery dilatation identified fortuitously by echocardiography and confirmed by contrast-enhanced computed tomography. Neither significant pulmonary valve dysfunction nor pulmonary hypertension and other cardiac abnormalities which might contribute to the PAA development were found. Here, we describe echocardiographic and computed tomography findings and review the literature on PAA management.

  10. Active Epilepsy as Indicator of Neurocysticercosis in Rural Northwest India

    Directory of Open Access Journals (Sweden)

    Sunil Kumar Raina

    2012-01-01

    Full Text Available Objective. To determine the contribution of neurocysticercosis as a cause for active epilepsy and to establish Neurocysticercosis as major definable risk of epilepsy in our setup. Methods. We conducted a door-to-door survey of 2,209 individuals of Bhore Pind and Bhore Kullian villages in Chattah zone of district Jammu (Jumma and Kashmir, Northwest India to identify patients with symptomatic epilepsy. Patients with active epilepsy were investigated with neuroimaging techniques to establish diagnosis of NCC (neurocysticercosis. Results. Among 25 patients with epilepsy 10(40% had CT/MR evidence of past or recent NCC infection. This gave us the point prevalence of 4.5/1000 for Neurocysticercosis in our study population. Interpretation. The study shows a high prevalence of NCC accounting for symptomatic epilepsy in our part of India.

  11. Idiopathic arterial calcification in childhood

    Energy Technology Data Exchange (ETDEWEB)

    Patel, Maya [Department of Paediatric Radiology, Red Cross Children' s Hospital, Cape Town (South Africa); Red Cross Children' s Hospital, School of Child and Adolescent Health, University of Cape Town, Klipfontein Road, Rondebosch, Cape Town (South Africa); Andronikou, Savvas; Solomon, Rustum; Sinclair, Paul; McCulloch, Mignon [Department of Paediatric Radiology, Red Cross Children' s Hospital, Cape Town (South Africa)

    2004-08-01

    Idiopathic arterial calcification in infancy is usually fatal with death in early life and diagnosis at post mortem. This report describes a unique, late presentation with hypertension and cardiac failure in a child aged 33 months, found to have widespread arterial calcification at radiological imaging. The calcium-phosphate axis was normal and there was no other demonstrable cause for calcification. Additionally, the histological features of arterial calcification at renal biopsy paralleled the findings in infants with this disorder. The late presentation in this case is unusual and has not been previously reported. Ultrasound and CT are sensitive for calcification, and the disease should be suspected in children presenting with cardiac or respiratory manifestations and features of arterial calcification, where no metabolic cause is established. (orig.)

  12. 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.

  13. 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....

  14. Epilepsy and risk of death and sudden unexpected death in the young

    DEFF Research Database (Denmark)

    Holst, Anders Gaarsdal; Winkel, Bo Gregers; Risgaard, Bjarke

    2013-01-01

    Patients with epilepsy are at increased risk of premature death from all causes and likely also from sudden unexplained death (SUD). Many patients with epilepsy have significant comorbidity, and it is unclear how much of the increased risk can be explained by epilepsy itself. We aimed to chart th...

  15. PATTERN OF INHERITANCE OF IDIOPATHIC HYPERCALCIURIA IN TWO FAMILIES

    Directory of Open Access Journals (Sweden)

    A. Nickavar

    2006-09-01

    Full Text Available Idiopathic hypercalciuria is a leading cause of frequency-dysuria syndrome in childhood. Different modes of inheritance have been suggested in this disease. This article presents the occurrence of idiopathic hypercalciuria in all children of two families. In the first family, a 5.5 year old girl with a history of renal stones and dysuria due to hypercalciuria, had two involved brothers and one sister. In the second family, hypercalciuria and medullary nephrocalcinosis were detected in two siblings who were admitted for polyuria and dysuria. Idiopathic type of hypercalciuria was diagnosed in these two families by normal laboratory exams and exclusion of other causes of normocalcemic hypercalciuria. According to the involvement of all offsprings (both sexes in these two families, it is suggested that idiopathic hypercalciuria is an autosomal dominant disease with complete penetration.

  16. Many people with epilepsy want to know more: a qualitative study.

    Science.gov (United States)

    Prinjha, Suman; Chapple, Alison; Herxheimer, Andrew; McPherson, Ann

    2005-08-01

    To explore why, at the turn of the 21st century, many people with epilepsy still want more information. Qualitative study with a maximum variation sample in the UK. We interviewed 38 men and women, 35 with epilepsy and three carers of people with epilepsy, recruited through GPs, neurologists, support groups and charities. People with epilepsy obtained information via health professionals, epilepsy organisations, leaflets, books, and the Internet. Many people wanted much more information about treatment options. People wanted to discuss the advantages and disadvantages of different drugs with their consultants, who were sometimes too busy. People also wanted to know more about the causes of epilepsy, partly because they feared the stigma associated with it, and other matters, such as Sudden Unexpected Death in Epilepsy [SUDEP]. The UK government plans to provide better services for those with epilepsy but, without enough money to employ more specialists, the information needs of patients may not be met. For concordance to work effectively doctors need to be aware of what patients think about their drugs, and patients need more information about treatment options. They also need more time to discuss the causes of epilepsy in order to reduce stigma and fear. Since time in consultations is short, clinicians should inform patients about epilepsy organisations, and direct them to websites such as the DIPEx (Personal Experiences of Health and Illness) epilepsy website (www.dipex.org/epilepsy), which focuses on patients' experiences of epilepsy and provides reliable information about medicines, other treatments, and resources.

  17. 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

  18. 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 ...

  19. Mutation analysis of the inwardly rectifying K(+) channels KCNJ6 (GIRK2) and KCNJ3 (GIRK1) in juvenile myoclonic epilepsy.

    Science.gov (United States)

    Hallmann, K; Durner, M; Sander, T; Steinlein, O K

    2000-02-07

    Genetic factors play a major role in the etiology of idiopathic generalized epilepsy. However, in most syndromes, especially the common ones, multiple genetic factors seem to be involved. Mutations in K(+) channel genes have previously found to be associated with epilepsy both in humans and in mice. The weaver mice phenotype, characterized by ataxia, tremor, male infertility, and tonic-clonic seizures, is caused by a point mutation in the inwardly rectifier K(+) channel gene KCNJ6 (GIRK2). A knockout mouse model deprived of functional KCNJ6 protein is susceptible to spontaneous and provoked seizures without showing the histological signs of neuronal cell death found in the weaver mouse. Thus, the KCNJ6 gene seems to play an important role in seizure control. We therefore performed a mutation analysis of KCNJ6 and the related KCNJ3 gene in 38 patients with juvenile myoclonic epilepsy (JME). Two novel same-sense nucleotide exchanges were identified, but none of these changed the coding sequence. These results do not support a major role for the KCNJ6/KCNJ3 heteromeric receptor in the etiology of JME. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:8-11, 2000

  20. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

    DEFF Research Database (Denmark)

    Reinthaler, Eva M; Lal, Dennis; Lebon, Sebastien;

    2014-01-01

    ) and atypical (ARE; n = 54) RE compared with the prevalence in 65,046 European population controls (5/393 cases versus 32/65,046 controls; Fisher's exact test P = 2.83 × 10(-6), odds ratio = 26.2, 95% confidence interval: 7.9-68.2). In contrast, the 16p11.2 duplication was not detected in 1738 European epilepsy...... patients with either temporal lobe epilepsy (n = 330) and genetic generalized epilepsies (n = 1408), suggesting a selective enrichment of the 16p11.2 duplication in idiopathic focal childhood epilepsies (Fisher's exact test P = 2.1 × 10(-4)). In a subsequent screen among children carrying the 16p11.2 600......Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q13...

  1. Epilepsy Awareness (A Minute of Health with CDC)

    Centers for Disease Control (CDC) Podcasts

    2013-11-07

    Epilepsy is a brain disorder characterized by recurrent seizures. This podcast discusses known causes of epilepsy and how to decrease the risk of developing it.  Created: 11/7/2013 by MMWR.   Date Released: 11/7/2013.

  2. Medical and Educational Aspects of Epilepsy: A Review.

    Science.gov (United States)

    Yousef, Jamal M.

    1985-01-01

    Definitions, prevalence, the most common types, causes, diagnosis, and treatment of epilepsy are briefly described. Basic information about seizures, the most apparent recurrent symptoms of epilepsy, and their impact upon the student's educational performance is provided. The teacher's role in managing students with epileptic seizures is also…

  3. 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.

  4. 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....

  5. Idiopathic membranous nephropathy complicated with malignant hypertension: a case report

    Institute of Scientific and Technical Information of China (English)

    TAO Jian-ling; LI Hang; WEN Yu-bing; LI Xue-wang

    2007-01-01

    @@ Membranous nephropathy (MN) is the most common cause of nephrotic syndrome in adults. Its insidious onset and progression often hinder timely renal biopsy and early diagnosis delaying treatment while worsening prognosis. The complication of malignant hypertension(MHT) is rarely seen in idiopathic MN. To provide a better understanding of the disease we report a case of idiopathic MN diagnosed by biopsy six years after onset.

  6. Evidence for cognitive vestibular integration impairment in idiopathic scoliosis patients

    Directory of Open Access Journals (Sweden)

    Mercier Pierre

    2009-08-01

    Full Text Available Abstract Background Adolescent idiopathic scoliosis is characterized by a three-dimensional deviation of the vertebral column and its etiopathogenesis is unknown. Various factors cause idiopathic scoliosis, and among these a prominent role has been attributed to the vestibular system. While the deficits in sensorimotor transformations have been documented in idiopathic scoliosis patients, little attention has been devoted to their capacity to integrate vestibular information for cognitive processing for space perception. Seated idiopathic scoliosis patients and control subjects experienced rotations of different directions and amplitudes in the dark and produced saccades that would reproduce their perceived spatial characteristics of the rotations (vestibular condition. We also controlled for possible alteration of the oculomotor and vestibular systems by measuring the subject's accuracy in producing saccades towards memorized peripheral targets in absence of body rotation and the gain of their vestibulo-ocular reflex. Results Compared to healthy controls, the idiopathic scoliosis patients underestimated the amplitude of their rotations. Moreover, the results revealed that idiopathic scoliosis patients produced accurate saccades to memorized peripheral targets in absence of body rotation and that their vestibulo-ocular reflex gain did not differ from that of control participants. Conclusion Overall, results of the present study demonstrate that idiopathic scoliosis patients have an alteration in cognitive integration of vestibular signals. It is possible that severe spine deformity developed partly due to impaired vestibular information travelling from the cerebellum to the vestibular cortical network or alteration in the cortical mechanisms processing the vestibular signals.

  7. CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation

    Science.gov (United States)

    Liu, J; Gao, C; Chen, W; Ma, W; Li, X; Shi, Y; Zhang, H; Zhang, L; Long, Y; Xu, H; Guo, X; Deng, S; Yan, X; Yu, D; Pan, G; Chen, Y; Lai, L; Liao, W; Li, Z

    2016-01-01

    Mutations in SCN1A, the gene encoding the α subunit of Nav1.1 channel, can cause epilepsies with wide ranges of clinical phenotypes, which are associated with the contrasting effects of channel loss-of-function or gain-of-function. In this project, CRISPR/Cas9- and TALEN-mediated genome-editing techniques were applied to induced pluripotent stem cell (iPSC)-based-disease model to explore the mechanism of epilepsy caused by SCN1A loss-of-function mutation. By fluorescently labeling GABAergic subtype in iPSC-derived neurons using CRISPR/Cas9, we for the first time performed electrophysiological studies on SCN1A-expressing neural subtype and monitored the postsynaptic activity of both inhibitory and excitatory types. We found that the mutation c.A5768G, which led to no current of Nav1.1 in exogenously transfected system, influenced the properties of not only Nav current amount, but also Nav activation in Nav1.1-expressing GABAergic neurons. The two alterations in Nav further reduced the amplitudes and enhanced the thresholds of action potential in patient-derived GABAergic neurons, and led to weakened spontaneous inhibitory postsynaptic currents (sIPSCs) in the patient-derived neuronal network. Although the spontaneous excitatory postsynaptic currents (sEPSCs) did not change significantly, when the frequencies of both sIPSCs and sEPSCs were further analyzed, we found the whole postsynaptic activity transferred from the inhibition-dominated state to excitation in patient-derived neuronal networks, suggesting that changes in sIPSCs alone were sufficient to significantly reverse the excitatory level of spontaneous postsynaptic activity. In summary, our findings fill the gap of our knowledge regarding the relationship between SCN1A mutation effect recorded on exogenously transfected cells and on Nav1.1-expressing neurons, and reveal the physiological basis underlying epileptogenesis caused by SCN1A loss-of-function mutation. PMID:26731440

  8. Juvenile idiopathic arthritis

    NARCIS (Netherlands)

    Prakken, Berent; Albani, Salvatore; Martini, Alberto

    2011-01-01

    Juvenile idiopathic arthritis is a heterogeneous group of diseases characterised by arthritis of unknown origin with onset before age of 16 years. Pivotal studies in the past 5 years have led to substantial progress in various areas, ranging from disease classification to new treatments. Gene expres

  9. Idiopathic ophthalmodynia and idiopathic rhinalgia: two topographic facial pain syndromes.

    Science.gov (United States)

    Pareja, Juan A; Cuadrado, María L; Porta-Etessam, Jesús; Fernández-de-las-Peñas, César; Gili, Pablo; Caminero, Ana B; Cebrián, José L

    2010-09-01

    To describe 2 topographic facial pain conditions with the pain clearly localized in the eye (idiopathic ophthalmodynia) or in the nose (idiopathic rhinalgia), and to propose their distinction from persistent idiopathic facial pain. Persistent idiopathic facial pain, burning mouth syndrome, atypical odontalgia, and facial arthromyalgia are idiopathic facial pain syndromes that have been separated according to topographical criteria. Still, some other facial pain syndromes might have been veiled under the broad term of persistent idiopathic facial pain. Through a 10-year period we have studied all patients referred to our neurological clinic because of facial pain of unknown etiology that might deviate from all well-characterized facial pain syndromes. In a group of patients we have identified 2 consistent clinical pictures with pain precisely located either in the eye (n=11) or in the nose (n=7). Clinical features resembled those of other localized idiopathic facial syndromes, the key differences relying on the topographic distribution of the pain. Both idiopathic ophthalmodynia and idiopathic rhinalgia seem specific pain syndromes with a distinctive location, and may deserve a nosologic status just as other focal pain syndromes of the face. Whether all such focal syndromes are topographic variants of persistent idiopathic facial pain or independent disorders remains a controversial issue.

  10. [Epilepsy in literature, cinema and television].

    Science.gov (United States)

    Collado-Vázquez, Susana; Carrillo, Jesús María

    2012-10-01

    Literature, cinema and television have often portrayed stereotypical images of people that have epilepsy and have helped foster false beliefs about the disease. To examine the image of epilepsy presented by literature, cinema and television over the years. Epilepsy has frequently been portrayed in literary works, films and television series, often relating it with madness, delinquency, violent behaviours or possession by the divine or the diabolical, all of which has helped perpetuate our ancestral beliefs. The literary tales and the images that appear in films and on television cause an important emotional impact and, bearing in mind that many people will only ever see an epileptic seizure in a film or in a TV series or might gain some information about the disorder from a literary text, what they see on the screen or read in the novels will be their only points of reference. Such experiences will therefore mark the awareness and knowledge they will have about epilepsy and their attitudes towards the people who suffer from it. Novels and films are fiction, but it is important to show realistic images of the disease that are no longer linked to the false beliefs of the past and which help the general public to have a more correct view of epilepsy that is free from prejudices and stereotypes. Literature, cinema and television have often dealt with the subject of epilepsy, sometimes realistically, but in many cases they have only helped to perpetuate false beliefs about this disease.

  11. Seizures and epilepsy in cats

    Directory of Open Access Journals (Sweden)

    Moore SA

    2014-07-01

    Full Text Available Sarah A Moore Department of Veterinary Clinical Sciences, The Ohio State University, Columbus, OH, USA Abstract: Seizures are a common presenting complaint in cats, although causes and options for the treatment of seizures in this species have been historically poorly described in the veterinary literature. Seizure manifestation in cats may be different than what is typically seen in dogs, but the underlying causes of seizure activity are the same. These include primary epilepsies, structural epilepsies, and reactive seizures. Although primary epilepsy was once believed to be rare in cats, we now commonly appreciate this syndrome, albeit at a lower frequency than in dogs. Because of this, a complete diagnostic work-up is recommended for all cats presenting for initial evaluation of seizures. Symptomatic treatment of seizures in cats is similar to dogs, with only a few limitations related to species-specific antiepileptic drug toxicities. The goal of this review is to summarize the recent veterinary literature related to feline seizures, with a focus on seizure classification, clinical manifestation, diagnostic evaluation, and treatment options. Keywords: antiepileptic drug, seizure classification, levetiracetam, zonisamide, phenobarbital

  12. 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.

  13. [Epilepsy and reproductive health: Senegalese cohort].

    Science.gov (United States)

    Dadah, S M L; Ndiaye, M; Diop, M S; Seck, L B; Diagne, N S; Ba, E H M; Cisse, O; Gaye, N M; Basse, A M; Sow, A D; Toure, K; Diop, A G; Ndiaye, M M

    2014-10-01

    Epilepsy is a public health problem in Senegal and Africa because of its severity and its social importance. It occurs at any age sparing no sex. It can influence sexual life and reciprocally. Our aims were to study the effects of antiepileptic drugs on the sexual lives of women with epilepsy, the influence of these drugs on pregnancy and breastfeeding. We conducted a prospective study from 1st March to 31st August 2011 in the neurological department of the Fann-Dakar teaching hospital Senegal. Only women with epilepsy were included. We collected 120 patients aged 16-64years with a mean age of 30.58years, 45% married, 44.16% were uneducated preponderant. All patients were taking antiepileptic drugs, 89.16% was alone. Fifty-five percent of our patients had epilepsy for at least 6years; 45.83% had generalized epilepsy; 44.17% of partial seizures. In our cohort, 64.16% were under phenobarbital, 69.16% had good adherence. As side effects of drugs, 90% had sexual problems. Seventy-five percent enjoyed an active sex life. A decrease in the number of sex per week for the disease [31/55=56.66%] was noted. In addition, 51.17% were using contraception, including 38.7% of oral kind and 64.86% had noticed an increase in seizure frequency during their pregnancies. Of the 74 women who had contracted a pregnancy, 41.89% had premature infants, 16.21% have made abortions and 61.17% had psychosocial life affected. People with epilepsy often experience sexual problems that may be caused by epilepsy, antiepileptic and/or reactions of the partner and the other facing the diagnosis of epilepsy. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  14. Is routine electroencephalography (EEG) a useful biomarker for pharmacoresistant epilepsy?

    Science.gov (United States)

    Steinhoff, Bernhard J; Scholly, Julia; Dentel, Christel; Staack, Anke Maren

    2013-05-01

    People with seizure disorders who have been treated at the Kork Epilepsy Center over a prolonged time period and who thus provide data concerning the chronic course of epilepsy were investigated in order to address the potential role of electroencephalography (EEG) as a biomarker for pharmacoresistant epilepsy. Clinical course and the corresponding findings from their first recorded EEG, their first EEG following appropriate treatment, and their last EEG were compared. Furthermore, we investigated if interictal epileptiform discharges (IEDs) differ in amplitude and morphology if recorded in long-term seizure-free patients. The early cessation of IEDs was a relatively good marker for a good prognosis, especially in idiopathic generalized epilepsies. However, persistent IEDs had no major impact on the long-term prognosis. We found no differences between IEDs in seizure-free patients or patients with ongoing seizures. Therefore, in our hands, routine EEG was not an appropriate biomarker for the prediction of pharmacoresistant epilepsy. Additional factors such as etiology and pathophysiology also need to be considered.

  15. 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...

  16. Determinants of intelligence in childhood-onset epilepsy: a single-center study.

    Science.gov (United States)

    Park, Jungmee; Yum, Mi-Sun; Choi, Hae-won; Kim, Eun Hee; Kim, Hyo Won; Ko, Tae-Sung

    2013-10-01

    The purpose of this study was to quantify the intelligence of children with epilepsy and to determine the clinical factors associated with intellectual impairment. The medical records of patients diagnosed with childhood-onset epilepsy at a single tertiary medical center in Korea between 2006 and 2011 were retrospectively reviewed. The Korean Education Development Institute-Wechsler Intelligence Scale for Children or Korean Wechsler Intelligence Scale for adults was used to quantify the level of intelligence. Age at seizure onset, etiology, epilepsy duration, number of seizures in the last year, use of antiepileptic drugs, EEG/MRI findings, and epilepsy classification were recorded. The association between clinical factors and the intelligence was determined using logistic regression. Three hundred and twenty-two patients were included in the analysis. One hundred and seventy-six (54.7%) patients had low intelligence (intelligence quotient [IQ]intelligence in multivariate logistic regression (pintelligence in children with idiopathic epilepsy. The most important factors associated with low intelligence in childhood-onset epilepsy are the underlying etiology and, in cryptogenic and symptomatic epilepsy, seizure burden. The results of this study underscore the importance of seizure control to alleviate the harmful impact of epilepsy on cognition. © 2013.

  17. Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

    OpenAIRE

    2010-01-01

    PUBLISHED Deletions at 16p13.11 are associated with schizophrenia, mental retardation, and most recently idiopathic generalized epilepsy. To evaluate the role of 16p13.11 deletions, as well as other structural variation, in epilepsy disorders, we used genome-wide screens to identify copy number variation in 3812 patients with a diverse spectrum of epilepsy syndromes and in 1299 neurologically-normal controls. Large deletions (> 100 kb) at 16p13.11 were observed in 23 patients, whereas no c...

  18. Sudden cardiac arrest in people with epilepsy in the community

    Science.gov (United States)

    Lamberts, Robert J.; Blom, Marieke T.; Wassenaar, Merel; Bardai, Abdennasser; Leijten, Frans S.; de Haan, Gerrit-Jan; Sander, Josemir W.; Thijs, Roland D.

    2015-01-01

    Objective: To ascertain whether characteristics of ventricular tachycardia/fibrillation (VT/VF) differed between people with epilepsy and those without and which individuals with epilepsy were at highest risk. Methods: We ascertained 18 people with active epilepsy identified in a community-based registry of sudden cardiac arrest (SCA) with ECG-confirmed VT/VF (cases). We compared them with 470 individuals with VT/VF without epilepsy (VT/VF controls) and 54 individuals with epilepsy without VT/VF (epilepsy controls). Data on comorbidity, epilepsy severity, and medication use were collected and entered into (conditional) logistic regression models to identify determinants of VT/VF in epilepsy. Results: In most cases, there was an obvious (10/18) or presumed cardiovascular cause (5/18) in view of preexisting heart disease. In 2 of the 3 remaining events, near–sudden unexpected death in epilepsy (SUDEP) was established after successful resuscitation. Cases had a higher prevalence of congenital/inherited heart disease (17% vs 1%, p = 0.002), and experienced VT/VF at younger age (57 vs 64 years, p = 0.023) than VT/VF controls. VT/VF in cases occurred more frequently at/near home (89% vs 58%, p = 0.009), and was less frequently witnessed (72% vs 89%, p = 0.048) than in VT/VF controls. Cases more frequently had clinically relevant heart disease (50% vs 15%, p = 0.005) and intellectual disability (28% vs 1%, p epilepsy controls. Conclusion: Cardiovascular disease rather than epilepsy characteristics is the main determinant of VT/VF in people with epilepsy in the community. SCA and SUDEP are partially overlapping disease entities. PMID:26092917

  19. Evaluation of the Prevalence of Concomitant Idiopathic Cyclic Edema and Cellulite

    OpenAIRE

    José Maria Pereira de Godoy, Maria de Fátima Guerreiro de Godoy

    2011-01-01

    The aim of this study was to evaluate the prevalence of concomitant idiopathic cyclic edema with Grade II and III cellulite. All patients treated for Grade II and III cellulite were evaluated for idiopathic cyclic edema in a retrospective, quantitative and cross-sectional study. The study was carried out at the Godoy Clinic in the period from 2006 to 2010. All patients with body mass indexes > 25, Grade I cellulite and other causes of edema were excluded. The diagnosis of idiopathic cycli...

  20. Selenium and topiramate attenuates blood oxidative toxicity in patients with epilepsy: a clinical pilot study.

    Science.gov (United States)

    Yürekli, Vedat Ali; Nazıroğlu, Mustafa

    2013-05-01

    It is well known that oxidative stress plays an important role in the etiology of epilepsy. We investigated effects of selenium (Se) and topiramate (TPM) combination supplementation on antioxidant and oxidant values in control and patients with epilepsy and refractory epilepsy. For the aim, we used control (n = 19), epilepsy + TPM (n = 19), epilepsy + TPM + Se (n = 15) groups. We also used control (n = 15), refractory epilepsy (n = 15), and refractory epilepsy + Se (n = 8) groups. TPM (0.2 mg/daily) and Se, as sodium selenite (twice daily with 0.1 mg doses), were orally supplemented to the patients for 45 days. Erythrocyte lipid peroxidation levels were higher in refractory epilepsy groups than in control although its level and seizure numbers were decreased in TPM and TPM + Se supplemented groups of the patients. The erythrocyte reduced glutathione (GSH), glutathione peroxidase (GSH-Px), plasma total antioxidant status (TAS), and vitamin E concentration in refractory epilepsy group were lower than in control. However, the erythrocyte and plasma TAS, erythrocyte GSH and GSH-Px, and plasma vitamins A and C values were increased either by Se or Se + TPM in epilepsy and refractory epilepsy groups. There were no effects of TPM and Se on plasma β-carotene values in the groups. In conclusion, TPM and selenium caused protective effects on the epilepsy and refractory epilepsy-induced oxidative injury by inhibiting free radical production and supporting antioxidant redox system.

  1. A case of idiopathic omental hemorrhage

    Directory of Open Access Journals (Sweden)

    Toshimitsu Hosotani

    2016-05-01

    Full Text Available With the exception of trauma, intraperitoneal hemorrhage in young women is caused by the high frequency of ectopic pregnancy and ovarian bleeding. Here, we describe a case of idiopathic omental hemorrhage, which is a rare cause of intraperitoneal hemorrhage. Intraperitoneal hemorrhage was suspected in a 38-year-old Japanese woman based on contrast-enhanced computed tomography. Her last menstrual period was 23 days prior, and ovarian bleeding was considered based on bloody ascites revealed by culdocentesis. She underwent emergency surgery for hypovolemic shock. Although both ovaries were of normal size and no abnormal findings were observed, we performed a partial omentectomy because multiple clots were attached only to the greater omentum. Postoperatively, no rebleeding occurred, and she was discharged 11 days after the surgery. Because she did not have a clear history of trauma and underlying disease, idiopathic omental hemorrhage was diagnosed.

  2. 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.

  3. 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...

  4. 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...

  5. 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

  6. 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

  7. Idiopathic Renal Infarction Mimicking Appendicitis

    Science.gov (United States)

    Lisanti, Francesco; Scarano, Enrico

    2017-01-01

    Renal infarction is a rare cause of referral to the emergency department, with very low estimated incidence (0.004%–0.007%). Usually, it manifests in patients aged 60–70 with risk factors for thromboembolism, mostly related to heart disease, atrial fibrillation in particular. We report a case of idiopathic segmental renal infarction in a 38-year-old patient, presenting with acute abdominal pain with no previous known history or risk factors for thromboembolic diseases. Because of its aspecific clinical presentation, this condition can mimic more frequent pathologies including pyelonephritis, nephrolithiasis, or as in our case appendicitis. Here we highlight the extremely ambiguous presentation of renal infarct and the importance for clinicians to be aware of this condition, particularly in patients without clear risk factors, as it usually has a good prognosis after appropriate anticoagulant therapy. PMID:28203466

  8. Analysis of adult patients with epilepsy in the age continuum

    Directory of Open Access Journals (Sweden)

    V. A. Karlov

    2016-01-01

    Full Text Available Objective: to study the presence of comorbidities and to investigate quality of life in patients with main types of epilepsy in relation to age.Patients and methods. The investigation enrolled 150 patients aged 17 to 64 years with idiopathic, cryptogenic, and symptomatic types of epilepsy. The investigators studied the presence of sleep disorders using the questionnaires designed by the Somnology Center, Ministry of Health of Russia, and that of daytime sleepiness by the Epworth Sleepiness Scale, determined the level of anxiety and depression by the Hospital Anxiety and Depression Scale, and assessed the severity of seizures by the National Hospital Seizure Severity Scale. Quality of life was investigated using the QOLIE-89 questionnaire. A cluster analysis was carried out to divide all the patients into three age groups (mean age, 27.3; 30.7; and 37.7 years.Results and discussion. A positive relationship was obtained between some indicators of sleep disorders, level of anxiety, and age. There were significant differences between the above three age groups in the following indicators: sleep disorders; daytime sleepiness; level of anxiety, severity of seizures, and scores of the QOLIE-89 questionnaire (p<0.001. Since the patients suffer from different basic types of epilepsy (cryptogenic, idiopathic, and symptomatic, the findings testify to age as an independent factor that modifies quality of life in epileptic patients.

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. 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.

  14. Idiopathic internal resorption: Report of a case with unusual features

    Directory of Open Access Journals (Sweden)

    Santosh Hunasgi

    2012-01-01

    Full Text Available Tooth resorption can occur from the internal surface of a tooth or from the external surface of a tooth. Internal resorption is commonly termed to be "idiopathic" because of unknown cause. The aim is to report a case of idiopathic internal resorption showing unusual features. A 25-year-old female patient complains of mobility of tooth in right lower back tooth region since 2 months. Clinically, there was slight mobility in 48. Radiographically a resorptive area was seen in crown region of 48. The crown part was removed with gentle pressure using probe. A hollow crown with resorbed dentin and intact thin enamel was seen in gross specimen. A final diagnosis of idiopathic internal resorption was given. Early detection is essential for successful management of idiopathic internal resorption. This prevents further weakening of remaining tooth structure leading to crown or root perforations.

  15. POLG1 in idiopathic Parkinson disease.

    Science.gov (United States)

    Tiangyou, W; Hudson, G; Ghezzi, D; Ferrari, G; Zeviani, M; Burn, D J; Chinnery, P F

    2006-11-14

    We studied POLG1 in 140 UK patients with idiopathic Parkinson disease (PD) and 279 Italian patients with PD and compared them to a UK control group (n = 207) and an Italian control group (n = 285). Our observations do not support a role for common POLG1 genetic variants in PD and indicate that dominant POLG1 mutations are a rare cause of parkinsonism in the general population.

  16. Sialosis, Gout Induced or Idiopathic? Case Report.

    Science.gov (United States)

    Naik, Keyur; Mandel, Louis

    2017-02-01

    Sialosis is observed in relation to diabetes, alcoholism, and malnutrition. An assumed relation between gout and sialosis is probably based on confusion that originated from the therapeutic use of phenylbutazone for gout and the sialadenitis that the medication caused. This report describes a case of sialosis in a patient with a longstanding history of gout that was idiopathic in origin. Copyright © 2016 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  17. Genetics Home Reference: juvenile idiopathic arthritis

    Science.gov (United States)

    ... Home Health Conditions juvenile idiopathic arthritis juvenile idiopathic arthritis Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Juvenile idiopathic arthritis refers to a group of conditions involving joint ...

  18. Genetics Home Reference: adolescent idiopathic scoliosis

    Science.gov (United States)

    ... Home Health Conditions adolescent idiopathic scoliosis adolescent idiopathic scoliosis Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Adolescent idiopathic scoliosis is an abnormal curvature of the spine that ...

  19. [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.

  20. 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.

  1. Knowledge of, perceptions of, and attitudes toward epilepsy among university students in Kuwait.

    Science.gov (United States)

    Al-Rashed, Hessa; Al-Yahya, Dana; Al-Kandari, Ameena; Shehab, Ala'a; Al-Sabah, Reem; Al-Taiar, Abdullah

    2009-02-01

    The aim of this study was to explore, using a self-administered questionnaire, university students' knowledge of, perceptions of, and attitudes toward epilepsy. Approximately 1.7% considered epilepsy a contagious disease, and 10.5%, a form of insanity. About 25 and 34% of students thought that epilepsy is caused by an evil spirit and the evil eye, respectively, and 17.4% thought epilepsy is punishment from God. About 8% believed patients with epilepsy should not marry, and 12.5% thought they should not have children. Similarly, 11.7% thought patients with epilepsy cannot think or judge like people without epilepsy, and 26.2% would not employ someone with epilepsy in a clerical job. Approximately 56% objected to marrying someone with epilepsy, and 12.5% would not allow their child to play with a child with epilepsy. In conclusion, university students in Kuwait have a vague knowledge of the causes of epilepsy. Misconceptions about and negative attitudes toward epilepsy are unexpectedly high among these university students.

  2. 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.

  3. Genetics of Epilepsy: What for and How to Examine Children with Epilepsy E.D. Belousova

    Directory of Open Access Journals (Sweden)

    E. D. Belousova

    2014-01-01

    Full Text Available The paper focuses on problems of genetic examination of children with epilepsy. The major types of monogenic epilepsies in children are described; clinical and research justification of molecular-genetic examination in these patients is given. Priority in molecular diagnosis should be given to epileptic syndromes with clear phenotype. In individuals with Dravet syndrome, detection of a typical mutation allows one to clarify the diagnosis and provides important data concerning prognosis and treatment strategy. If the phenotype is less clear, diagnostic panels need to be used to determine the most frequent mutations that cause severe epilepsy (epileptic encephalopathies. Thus, genetic studies provide new insights into epileptic encephalopathies with prolonged spike-wave activity during sleep: the GRIN2A gene encoding the alpha subunit of NMDA receptors was muted in 17.6% of children with this syndrome. The need for supplementing the examination algorithm of a child with severe epilepsy with comparative genomic hybridization is emphasized. In practical terms, detection of an epilepsy-causing muta- tion allows one to refuse further expensive diagnostic procedures, to predict the disease course more accurately (in some cases, to optimize the therapeutic strategy, and to determine the prognosis of further reproductive potential in some cases. Scientifically, studies into the sequelae of the known mutations (and their effect on child's brain development allow one to refine the key processes of epileptogenesis. These data may be used to design new therapy methods (the so-called target therapy for epilepsy in future. 

  4. Epilepsy and music: practical notes.

    Science.gov (United States)

    Maguire, M

    2017-04-01

    Music processing occurs via a complex network of activity far beyond the auditory cortices. This network may become sensitised to music or may be recruited as part of a temporal lobe seizure, manifesting as either musicogenic epilepsy or ictal musical phenomena. The idea that sound waves may directly affect brain waves has led researchers to explore music as therapy for epilepsy. There is limited and low quality evidence of an antiepileptic effect with the Mozart Sonata K.448. We do not have a pathophysiological explanation for the apparent dichotomous effect of music on seizures. However, clinicians should consider musicality when treating patients with antiepileptic medication or preparing patients for epilepsy surgery. Carbamazepine and oxcarbazepine each may cause a reversible altered appreciation of pitch. Surgical cohort studies suggest that musical memory and perception may be affected, particularly following right temporal lobe surgery, and discussion of this risk should form part of presurgical counselling. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  5. Prevalence and etiology of epilepsy in a Norwegian county-A population based study.

    Science.gov (United States)

    Syvertsen, Marte; Nakken, Karl Otto; Edland, Astrid; Hansen, Gunnar; Hellum, Morten Kristoffer; Koht, Jeanette

    2015-05-01

    Epilepsy represents a substantial personal and social burden worldwide. When addressing the multifaceted issues of epilepsy care, updated epidemiologic studies using recent guidelines are essential. The aim of this study was to find the prevalence and causes of epilepsy in a representative Norwegian county, implementing the new guidelines and terminology suggested by the International League Against Epilepsy (ILAE). Included in the study were all patients from Buskerud County in Norway with a diagnosis of epilepsy at Drammen Hospital and the National Center for Epilepsy at Oslo University Hospital. The study period was 1999-2014. Patients with active epilepsy were identified through a systematic review of medical records, containing information about case history, electroencephalography (EEG), cerebral magnetic resonance imaging (MRI), genetic tests, blood samples, treatment, and other investigations. Epilepsies were classified according to the revised terminology suggested by the ILAE in 2010. In a population of 272,228 inhabitants, 1,771 persons had active epilepsy. Point prevalence on January 1, 2014 was 0.65%. Of the subjects registered with a diagnostic code of epilepsy, 20% did not fulfill the ILAE criteria of the diagnosis. Epilepsy etiology was structural-metabolic in 43%, genetic/presumed genetic in 20%, and unknown in 32%. Due to lack of information, etiology could not be determined in 4%. Epilepsy is a common disorder, affecting 0.65% of the subjects in this cohort. Every fifth subject registered with a diagnosis of epilepsy was misdiagnosed. In those with a reliable epilepsy diagnosis, every third patient had an unknown etiology. Future advances in genetic research will probably lead to an increased identification of genetic and hopefully treatable causes of epilepsy. Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

  6. Idiopathic facial pain related with dental implantation

    Directory of Open Access Journals (Sweden)

    Tae-Geon Kwon

    2016-06-01

    Full Text Available Chronic pain after dental implantation is rare but difficult issue for the implant practitioner. Patients with chronic pain who had been performed previous implant surgery or related surgical intervention sometimes accompany with psychological problem and difficult to adequately manage. According to the International Classification of Headache Disorders (ICHD 3rd eds, Cepalagia 2013, painful neuropathies and other facial pains are subdivided into the 12 subcategories; 13.1. Trigeminal neuralgia; 13.2 Glossopharyngeal neuralgia; 13.3 Nervus intermedius (facial nerve neuralgia; 13.4 Occipital neuralgia; 13.5 Optic neuritis; 13.6 Headache attributed to ischaemic ocular motor nerve palsy; 13.7 Tolosa-Hunt syndrome; 13.8 Paratrigeminal oculo-sympathetic (Raeder’s syndrome; 13.9 Recurrent painful ophthalmoplegic neuropathy; 13.10 Burning Mouth Syndrome (BMS; 13.11 Persistent Idiopathic Facial Pain (PIFP; 13.12 Central neuropathic pain. Chronic orofacial pain after dental implant surgery can be largely into the two main categories that can be frequently encountered in clinical basis ; 1 Neuropathic pain, 2 Idiopathic pain. If there is no direct evidence of the nerve injury related with the implant surgery, the clinician need to consider the central cause of pain instead of the peripheral cause of the pain. There might be several possibilities; 1 Anaesthesia dolorosa, 2 Central post-stroke pain, 3 Facial pain attributed to multiple sclerosis, 4 Persistent idiopathic facial pain (PIFP, 5 Burning mouth syndrome. In this presentation, Persistent idiopathic facial pain (PIFP, the disease entity that can be frequently encountered in the clinic would be discussed. Persistent idiopathic facial pain (PIFP can be defined as “persistent facial and/or oral pain, with varying presentations but recurring daily for more than 2 hours per day over more than 3 months, in the absence of clinical neurological deficit”. ‘Atypical’ pain is a diagnosis of

  7. Relativity analysis of arterosclerotic cerebral infarction of senile patients and secondary epilepsy%老年动脉硬化性脑梗死与继发性癫痫相关性分析

    Institute of Scientific and Technical Information of China (English)

    张英杰; 马艳

    2001-01-01

    @@Background: Acute cerebral vascular secondary epilepsy isn't uncommon in clinic.It can happen at any time of epilepsy,even as first- onset or main clinical manifestation.Main cause of stroke of senile patients is arteriosclerosis,which is main cause of old stage epilepsy. Objective:To analyze relativity of arterosclerotic cerebral infarction of senile patients and secondary epilepsy.

  8. Idiopathic Normal Pressure Hydrocephalus

    OpenAIRE

    2016-01-01

    Idiopathic normal pressure hydrocephalus (iNPH) is a potentially reversible neurodegenerative disease commonly characterized by a triad of dementia, gait, and urinary disturbance. Advancements in diagnosis and treatment have aided in properly identifying and improving symptoms in patients. However, a large proportion of iNPH patients remain either undiagnosed or misdiagnosed. Using PubMed search engine of keywords “normal pressure hydrocephalus,” “diagnosis,” “shunt treatment,” “biomarkers,” ...

  9. Idiopathic gingival fibromatosis

    Directory of Open Access Journals (Sweden)

    Sujata Rath

    2011-01-01

    This article presents a case report of a 14-year-old female patient with idiopathic gingival fibromatosis in the maxillary region with radiographic feature of congenitally missing maxillary permanent left lateral incisor, maxillary left and right permanent canine, mandibular right second premolar, all third molars along with overretained primary maxillary left lateral incisor and primary mandibular second molar. The treatment rendered in this patient comprised of surgical excision of the hyperplasia under general anesthesia.

  10. Idiopathic intracranial hypertension

    DEFF Research Database (Denmark)

    Yri, Hanne M; Jensen, Rigmor H

    2015-01-01

    AIMS: The aims of this article are to characterize the headache in idiopathic intracranial hypertension (IIH) and to field-test the ICHD diagnostic criteria for headache attributed to IIH. MATERIALS AND METHODS: We included 44 patients with new-onset IIH. Thirty-four patients with suspected...... tinnitus may suggest intracranial hypertension. Based on data from a well-defined IIH cohort, we propose a revision of the ICDH-3 beta diagnostic criteria with improved clinical applicability and increased sensitivity and specificity....

  11. Acute Idiopathic Scrotal Edema

    Directory of Open Access Journals (Sweden)

    Micheál Breen

    2013-01-01

    Full Text Available We report a case of acute idiopathic scrotal edema (AISE in a 4-year-old boy who presented with acute scrotal pain and erythema. The clinical features, ultrasound appearance, and natural history of this rare diagnosis are reviewed. In this report, we highlight the importance of good ultrasound technique in differentiating the etiology of the acute scrotum and demonstrate the color Doppler “Fountain Sign” that is highly suggestive of AISE.

  12. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

    DEFF Research Database (Denmark)

    Hardies, Katia; de Kovel, Carolien G F; Weckhuysen, Sarah

    2015-01-01

    . Occasionally recessive mutations are identified: a recent publication described a distinct neonatal epileptic encephalopathy (MIM 615905) caused by autosomal recessive mutations in the SLC13A5 gene. Here, we report eight additional patients belonging to four different families with autosomal recessive...

  13. 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.

  14. 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.

  15. 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.

  16. [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.

  17. 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.

  18. The burden of premature mortality of epilepsy in high-income countries: A systematic review from the Mortality Task Force of the International League Against Epilepsy.

    Science.gov (United States)

    Thurman, David J; Logroscino, Giancarlo; Beghi, Ettore; Hauser, W Allen; Hesdorffer, Dale C; Newton, Charles R; Scorza, Fulvio Alexandre; Sander, Josemir W; Tomson, Torbjörn

    2017-01-01

    Since previous reviews of epidemiologic studies of premature mortality among people with epilepsy were completed several years ago, a large body of new evidence about this subject has been published. We aim to update prior reviews of mortality in epilepsy and to reevaluate and quantify the risks, potential risk factors, and causes of these deaths. We systematically searched the Medline and Embase databases to identify published reports describing mortality risks in cohorts and populations of people with epilepsy. We reviewed relevant reports and applied criteria to identify those studies likely to accurately quantify these risks in representative populations. From these we extracted and summarized the reported data. All population-based studies reported an increased risk of premature mortality among people with epilepsy compared to general populations. Standard mortality ratios are especially high among people with epilepsy aged <50 years, among those whose epilepsy is categorized as structural/metabolic, those whose seizures do not fully remit under treatment, and those with convulsive seizures. Among deaths directly attributable to epilepsy or seizures, important immediate causes include sudden unexpected death in epilepsy (SUDEP), status epilepticus, unintentional injuries, and suicide. Epilepsy-associated premature mortality imposes a significant public health burden, and many of the specific causes of death are potentially preventable. These require increased attention from healthcare providers, researchers, and public health professionals. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

  19. 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.

  20. Distribution of GST-pi single nucleotide polymorphism in idiopathic epilepsy patients and its association with electroencephalogram%谷胱甘肽硫转移酶pi基因型在隐源性癫(癎)患者中的分布特征及其与脑电图的相关性

    Institute of Scientific and Technical Information of China (English)

    杨娟; 谢正祥; 王学峰; 张婧; 席志芹; 黄祖春

    2008-01-01

    Objective To study the distribution patterns of the SNPs for the 3 sites (Ⅱe105Val, Ala114Val and Asp147Tyr) of glutathione S-transferase pi (GST-pi) in epilepsy patients without definite etiological factors. Methods At the same time, the possible relationship of GST-pi gene mutation with the vulnerability of drug-resistant epilepsy, drug-responsive epilepsy and EEG feature were explored. The SNPs of GST-pi for healthy people, drug-responsive epilepsy patients and drug-resistant epilepsy patients were genotyped by sequence-specific primers (SSP)-based PCR technologies (PCR-SSP). Results In drugresponsive epilepsy group, the frequency for 3 sites of mutated SNP of GST-pi was 59.62%, 55.32% and 50.94%, while it was 58.33%, 51.19% and 45.92% in drug-resistant epilepsy group. The difference of genotype and allele between normal group and foregoing epilepsy group was significant ( P0.05 ). There was a difference of genotype distribution between groups with typical and untypical epilepsy EEG ( F = 0.0294, 8.867 × 10-6, 1.366 × 10-5, P<0.05 ). Conclusions The results indicate that the SNPs of GST-pi are associated with an increased risk of epilepsy, but not associated with an increased risk of drugresistant epilepsy. The patients present EEG characteristic of typical epilepsy.%目的 探讨谷胱甘肽硫转移酶(GST)-pi基因3个位点(lle105Val、Ala114Val、Asp147Tyr)的单核苷酸多态性(SNP)与癫(癎)及难治性癫(癎)易息性的相关性.方法 采用等位基因特异性引物PCR技术检测GST-pi SNP,分析其在隐源性癫(癎)患者中的频率分布特征及其相关性.结果 在非难治性癫(癎)组中GST-pi基因变异的SNP在3个位点分布频率分别为59.62%、55.32%、50.94%,在难治性癫(癎)组中为58.33%、51.19%、45.92%.两组中GST-pi的3个位点变异基因型及变异等位基因分布频率均较健康对照组高(P<0.01).典型癫(癎)波脑电图组与不典型的异常脑电图组的基因型频率分布比

  1. Epilepsy and cysticercosis in Northwest Cameroon: a serological study.

    Science.gov (United States)

    Elliott, Irene; Jerome, Ambanibe; Angwafor, Samuel A; Smith, Mary Lou; Takougang, Innocent; Noh, John; Tsang, Victor; Wilkins, Patricia; Cockburn, Lynn; Keystone, Jay; Njamnshi, Alfred K; Snead, O Carter

    2013-05-01

    The prevalence of epilepsy in Cameroon is higher than that of the industrialized world and other developing countries. Neurocysticercosis due to Taenia solium infestation has been reported as a major cause of epilepsy in some parts of Cameroon although there are some conflicting data. The prevalence of epilepsy is especially high in the Momo division of the North-West Province of Cameroon. We hypothesized that individuals with epilepsy in this region have a higher percentage of seropositivity to T. solium than matched controls. We conducted a case-control study in the Momo subdivision of Ngie. Individuals with epilepsy were recruited from the health centers in Ngie. Control subjects were selected from 19 Ngie villages. Potential cases of people with epilepsy (PWE) were identified through a questionnaire applied by trained field workers, using history of epileptic seizures as a key indicator. Blood samples were taken from all consenting individuals by finger prick, stored in StabilZyme Select, and assayed for antibodies to T. solium in an Atlanta based reference laboratory. We accrued 249 patients with epilepsy, of whom 237 met the inclusion criteria, and 245 age-matched controls. There was no significant difference in seropositivity to T. solium between those individuals with epilepsy (5%) and controls (4.9%). Our data do not support the hypothesis that epilepsy is associated with seropositivity to T. solium. It is highly unlikely that cysticercosis plays a causative role in the high prevalence of epilepsy in this region of Cameroon. Copyright © 2013 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  2. Idiopathic gingival enlargement and its management

    Directory of Open Access Journals (Sweden)

    Shetty Arvind

    2010-01-01

    Full Text Available Idiopathic gingival enlargement is a proliferative fibrous lesion of the gingival tissue that causes esthetic and functional problems. Both genetically and pharmacologically induced forms of gingival enlargement exist. This case report addresses the diagnosis and treatment of a case of idiopathic gingival enlargement in a 13-year-old female. The patient presented with generalized diffuse gingival enlargement involving the maxillary and mandibular arches extending on buccal and lingual/palatal surfaces and covering incisal / occlusal third of the tooth resulting in difficulty in speech and mastication since last three years. Patient also gave a history of surgical treatment being carried out four years back in upper anterior region suggesting of recurrence. Biopsy report confirmed the diagnosis of gingival hyperplasia. Gingivectomy was carried out in all four quadrants by using four different methods.

  3. "Idiopathic" mental retardation and new chromosomal abnormalities.

    Science.gov (United States)

    Galasso, Cinzia; Lo-Castro, Adriana; El-Malhany, Nadia; Curatolo, Paolo

    2010-02-14

    Mental retardation is a heterogeneous condition, affecting 1-3% of general population. In the last few years, several emerging clinical entities have been described, due to the advent of newest genetic techniques, such as array Comparative Genomic Hybridization. The detection of cryptic microdeletion/microduplication abnormalities has allowed genotype-phenotype correlations, delineating recognizable syndromic conditions that are herein reviewed. With the aim to provide to Paediatricians a combined clinical and genetic approach to the child with cognitive impairment, a practical diagnostic algorithm is also illustrated. The use of microarray platforms has further reduced the percentage of "idiopathic" forms of mental retardation, previously accounted for about half of total cases. We discussed the putative pathways at the basis of remaining "pure idiopathic" forms of mental retardation, highlighting possible environmental and epigenetic mechanisms as causes of altered cognition.

  4. Clinical characteristics of idiopathic portal hypertension

    Institute of Scientific and Technical Information of China (English)

    Ozgur Harmanci; Yusuf Bayraktar

    2007-01-01

    Idiopathic portal hypertension is one of the interesting causes of portal hypertension. Even in very developed medical centers, this disorder is still one of the most important misdiagnoses of clinical practice. To inexperienced physicians, presenting esophageal varices and upper gastrointestinal bleeding usually prompt an unfortunate diagnosis of cirrhosis. A heterogenous clinical presentation and progression of this disorder should be recognized by physicians, and management should be directed towards some specific problems confined to this disorder. Although a genetic basis and other factors are implicated in its pathogenesis, exact underlying mechanism(s) is (are) unknown. In this review, we discuss the heterogeneity of idiopathic portal hypertension, its etiopathogenesis, clinical presentation and management issues. With the expectation of an excellent prognosis, a practicing gastroenterologist should be aware that "not all varices mean cirrhosis".

  5. Epilepsy: An Overview for the Special Educator.

    Science.gov (United States)

    Nivens, Maryruth K.

    Intended to dispel myths concerning epilepsy, the paper discusses the history, symptoms and characteristics, possible causes and current medication approaches to the condition, theoretical assumptions are traced, and a definition explained. Charts depict the location of discharge; seizure patterns and accompanying physical/psychological symptoms;…

  6. 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). ...

  7. The misdiagnosis of epilepsy: Appraising risks and managing uncertainty.

    Science.gov (United States)

    Oto, Maria Meritxell

    2017-01-01

    To present evidence from the literature on the rates, underlying causes and consequences of the misdiagnosis of epilepsy and place these meaningfully within a practical framework of risk appraisal and managed diagnostic uncertainty towards informing a clinical practice that might make misdiagnosis less likely. Narrative review. Misdiagnosis of epilepsy remains common and the consequences for the individual significant. Evidence and critical appraisal are presented as regards the absolute level of risk associated with the false positive diagnosis epilepsy, and reasons as to why those risks need to be appraised against the risks associated to false negative diagnosis. Diagnostic error is not entirely avoidable and a degree of uncertainty, and perforce risk, is intrinsic to the diagnostic process of epilepsy. The risks of a false negative diagnosis of epilepsy must be appraised against the also significant risks of a false positive diagnosis. Crown Copyright © 2016. Published by Elsevier Ltd. All rights reserved.

  8. Gender issues in the neurobiology of epilepsy: a clinical perspective.

    Science.gov (United States)

    Koppel, Barbara S; Harden, Cynthia L

    2014-12-01

    A patient's hormonal milieu contributes to the timing of emergence of several epilepsy syndromes that are known to begin at puberty and recede with the end of reproductive potential. One's hormonal balance at any particular moment contributes to seizure occurrence in both men and women. The best studied condition, catamenial epilepsy, refers to seizure clusters occurring in a cyclical pattern related to menses. Treatment of epilepsy using hormones complements standard antiepileptic therapy and its use will be reviewed, along with some other medications unique to catamenial epilepsy, such as diuretics.Seizures and “silent” epileptiform discharges in turn affect the hypothalamic pituitary axis and can cause release of hormones at inappropriate times leading to sexual dysfunction, menstrual irregularity, infertility and premature termination of reproductive states. Combined with psychological consequences of epilepsy, this sexual dysfunction has deleterious effects on the quality of life in patients and their partners.

  9. Anticonvulsant-induced downbeat nystagmus in epilepsy

    Science.gov (United States)

    Wu, Dongyan; Thijs, Roland D.

    2015-01-01

    We report data from two patients who developed reversible downbeat nystagmus (DBN) while using AEDs within the therapeutic range. All previous reported cases of epilepsy with drug-induced DBN related to toxic levels of AEDs were summarized, and DBN was found mostly occurring in those using a sodium channel blocking AED. We propose that in our cases, the DBN with therapeutic AED levels may be explained by additive effects of sodium channel blockers. Adverse drug effects should be considered as a cause of DBN in people with epilepsy treated with multiple AEDs. PMID:26543808

  10. Anticonvulsant-induced downbeat nystagmus in epilepsy

    Directory of Open Access Journals (Sweden)

    Dongyan Wu

    2015-01-01

    Full Text Available We report data from two patients who developed reversible downbeat nystagmus (DBN while using AEDs within the therapeutic range. All previous reported cases of epilepsy with drug-induced DBN related to toxic levels of AEDs were summarized, and DBN was found mostly occurring in those using a sodium channel blocking AED. We propose that in our cases, the DBN with therapeutic AED levels may be explained by additive effects of sodium channel blockers. Adverse drug effects should be considered as a cause of DBN in people with epilepsy treated with multiple AEDs.

  11. [Social aspects of epilepsy: marriage, pregnancy, driving, antiepileptic drug withdrawal and against social stigma].

    Science.gov (United States)

    Tsuji, Sadatoshi

    2004-11-01

    Persons with epilepsy need adequate advice and effective counselling about issues such as marriage, pregnancy, risks of inheriting epilepsy, driving, employment and antiepileptic drug withdrawal, because these persons are not receiving important information and education about their condition and possible adverse effects of treatment. Furthermore, women with epilepsy have increased rates of pregnancy complications and poor fetal outcomes including congenital malformations and developmental delay related to both their epilepsy and antiepileptic drugs. However, approximately 90% of all women with epilepsy undergo normal pregnancy and give birth to children free of birth defects. Pregnancy is generally safe in women with epilepsy. The study of long-term prognosis of childhood-onset epilepsy in Japan shows that the majority of these patients have lower levels of educational background as well as employment and marital status compared with the general population (Wakamoto H. et al). Of patients with epilepsy, 60% to 70% achieve control with antiepileptic medication. However, several antiepileptic drug withdrawal studies show variable rates of success, with relapse rates ranging from 12% to 63% (Britton J.W.). Driving is listed as major problem in persons with epilepsy. However, the patients with seizure-free more than two years have been able to get the driver's license since June, 2002. Social attitudes towards epilepsy cause more distress to the patient than the disease itself. We should realize that persons with epilepsy are normal or near-normal. To ameliorate the social stigma against epilepsy, continuous and repetitive educational efforts would be needed.

  12. Adolescent Idiopathic Scoliosis: From Normal Spinal Anatomy To Three-Dimensional Deformity

    NARCIS (Netherlands)

    Schlösser, T.P.C.

    2014-01-01

    Adolescent idiopathic scoliosis is a three-dimensional deformity of the spine and trunk that primarily affects previously healthy children. It is a classic orthopedic disorder. Despite many years of dedicated research into the etio-pathogenesis of idiopathic scoliosis, there is not one distinct caus

  13. Human upright spinopelvic alignment and the etio-pathogenesis of idiopathic scoliosis

    NARCIS (Netherlands)

    Janssen, M.M.A.

    2011-01-01

    Idiopathic scoliosis is a classic and intriguing orthopedic disorder in which the spine, usually during the pubertal growth spurt, collapses into a three-dimensional deformity without any known cause. Despite many anatomical similarities between the human spine and other spines in nature, idiopathic

  14. Gain of function Nanu1.7 mutations in idiopathic small fiber neuropathy.

    NARCIS (Netherlands)

    Faber, C.G.; Hoeijmakers, J.G.; Ahn, H.S.; Cheng, X.; Han, C.; Choi, J.S.; Estacion, M.; Lauria, G.; Vanhoutte, E.K.; Gerrits, M.M.; Dib-Hajj, S.; Drenth, J.P.H.; Waxman, S.G.; Merkies, I.S.

    2012-01-01

    OBJECTIVE: Small nerve fiber neuropathy (SFN) often occurs without apparent cause, but no systematic genetic studies have been performed in patients with idiopathic SFN (I-SFN). We sought to identify a genetic basis for I-SFN by screening patients with biopsy-confirmed idiopathic SFN for mutations i

  15. Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy

    NARCIS (Netherlands)

    Stanescu, H.C.; Arcos-Burgos, M.; Medlar, A.; Bockenhauer, D.; Kottgen, A.; Dragomirescu, L.; Voinescu, C.; Patel, N.; Pearce, K.; Hubank, M.; Stephens, H.A.; Laundy, V.; Padmanabhan, S.; Zawadzka, A.; Hofstra, J.M.; Coenen, M.J.H.; Heijer, M. den; Kiemeney, L.A.L.M.; Bacq-Daian, D.; Stengel, B.; Powis, S.H.; Brenchley, P.; Feehally, J.; Rees, A.J.; Debiec, H.; Wetzels, J.F.M.; Ronco, P.; Mathieson, P.W.; Kleta, R.

    2011-01-01

    BACKGROUND: Idiopathic membranous nephropathy is a major cause of the nephrotic syndrome in adults, but its etiologic basis is not fully understood. We investigated the genetic basis of biopsy-proven cases of idiopathic membranous nephropathy in a white population. METHODS: We performed independent

  16. Brief Report: Sensorimotor Gating in Idiopathic Autism and Autism Associated with Fragile X Syndrome

    Science.gov (United States)

    Yuhas, Jennifer; Cordeiro, Lisa; Tassone, Flora; Ballinger, Elizabeth; Schneider, Andrea; Long, James M.; Ornitz, Edward M.; Hessl, David

    2011-01-01

    Prepulse inhibition (PPI) may useful for exploring the proposed shared neurobiology between idiopathic autism and autism caused by FXS. We compared PPI in four groups: typically developing controls (n = 18), FXS and autism (FXS+A; n = 15), FXS without autism spectrum disorder (FXS-A; n = 17), and idiopathic autism (IA; n = 15). Relative to…

  17. Neural circuit mechanisms of posttraumatic epilepsy

    Directory of Open Access Journals (Sweden)

    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.

  18. 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.

  19. [Drug resistant epilepsy. Clinical and neurobiological concepts].

    Science.gov (United States)

    Espinosa-Jovel, Camilo A; Sobrino-Mejía, Fidel E

    2015-08-16

    Drug-resistant epilepsy, is a condition defined by the International League Against Epilepsy as persistent seizures despite having used at least two appropriate and adequate antiepileptic drug treatments. Approximately 20-30% of patients with epilepsy are going to be resistant to antiepileptic drugs, with different patterns of clinical presentation, which are related to the biological basis of this disease (de novo resistance, relapsing-remitting and progressive). Drug resistant epilepsy, impacts negatively the quality of life and significantly increases the risk of premature death. From the neurobiological point of view, this medical condition is the result of the interaction of multiple variables related to the underlying disease, drug interactions and proper genetic aspects of each patient. Thanks to advances in pharmacogenetics and molecular biology research, currently some hypotheses may explain the cause of this condition and promote the study of new therapeutic options. Currently, overexpression of membrane transporters such as P-glycoprotein, appears to be one of the most important mechanisms in the development of drug resistant epilepsy. The objective of this review is to deepen the general aspects of this clinical condition, addressing the definition, epidemiology, differential diagnosis and the pathophysiological bases.

  20. 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.