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Sample records for myoclonus epilepsy epm1

  1. Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)

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    Lalioti, M.D.; Mirotsou, M.; Rossier, C. [Univ. Hospital of Geneva (Switzerland)] [and others

    1997-02-01

    Progressive myoclonus epilepsy (EPM1) is an autosomal recessive disorder, characterized by severe, stimulus-sensitive myoclonus and tonic-clonic seizures. The EPM1 locus was mapped to within 0.3 cM from PFKL in chromosome 21q22.3. The gene for the proteinase inhibitor cystatin B was recently localized in the EPM1 critical region, and mutations were identified in two EPM1 families. We have identified six nucleotide changes in the cystatin B gene of non-Finnish EPM1 families from northern Africa and Europe. The 426G{r_arrow}C change in exon 1 results in a Gly4Arg substitution and is the first missense mutation described that is associated with EPM1. Molecular modeling predicts that this substitution severely affects the contact of cystatin B with papain. Mutations in the invariant AG dinucleotides of the acceptor sites of introns 1 and 2 probably result in abnormal splicing. A deletion of two nucleotides in exon 3 produces a frameshift and truncates the protein. Therefore, these four mutations are all predicted to impair the production of functional protein. These mutations were found in 7 of the 29 unrelated EPM1 patients analyzed, in homozygosity in 1, and in heterozygosity in the others. The remaining two sequence changes, 431G{r_arrow}T and 2575A{r_arrow}G, probably represent polymorphic variants. In addition, a tandem repeat in the 5{prime} UTR (CCCCGCCCCGCG) is present two or three times in normal alleles. It is peculiar that in the majority of patients no mutations exist within the exons and splice sites of the cystatin B gene. 23 refs., 5 figs., 3 tabs.

  2. The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3

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    Lalioti, M.D.; Rossier, C.; Antonarakis, S.E. [Univ. of Geneva Medical School (Switzerland)] [and others

    1996-04-15

    We used targeted exon trapping to clone portions of genes from human chromosome 21q22.3. One trapped sequence showed complete homology with the cDNA of human U2AF{sup 35} (M96982; HGM-approved nomenclature U2AF1), which encodes for the small 35-kDa subunit of the U2 snRNP auxiliary factor. Using the U2AF1 cDNA as a probe, we mapped this gene to cosmid Q15D2, a P1, and YAC 350F7 of the Chumakov et al. contig, close to the cystathionine-{beta}-synthase gene (CBS) on 21q22.3. This localization was confirmed by PCR using oligonucleotides from the 3{prime} UTR and by FISH. As U2AF1 associated with a number of different factors during mRNA splicing, overexpression in trisomy 21 individuals could contribute to some Down syndrome phenotypes by interfering with the splicing process. Furthermore, because this gene maps in the critical region for the progressive myoclonus epilepsy I locus (EPM1), mutation analysis will be carried out in patients to evaluate the potential role of U2AF1 as a candidate for EPM1. 24 refs., 1 fig.

  3. Genetics Home Reference: Lafora progressive myoclonus epilepsy

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    ... Conditions Lafora progressive myoclonus epilepsy Lafora progressive myoclonus epilepsy Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures ( ...

  4. 3D texture analysis reveals imperceptible MRI textural alterations in the thalamus and putamen in progressive myoclonic epilepsy type 1, EPM1.

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    Sanna Suoranta

    Full Text Available Progressive myoclonic epilepsy type 1 (EPM1 is an autosomal recessively inherited neurodegenerative disorder characterized by young onset age, myoclonus and tonic-clonic epileptic seizures. At the time of diagnosis, the visual assessment of the brain MRI is usually normal, with no major changes found later. Therefore, we utilized texture analysis (TA to characterize and classify the underlying properties of the affected brain tissue by means of 3D texture features. Sixteen genetically verified patients with EPM1 and 16 healthy controls were included in the study. TA was performed upon 3D volumes of interest that were placed bilaterally in the thalamus, amygdala, hippocampus, caudate nucleus and putamen. Compared to the healthy controls, EPM1 patients had significant textural differences especially in the thalamus and right putamen. The most significantly differing texture features included parameters that measure the complexity and heterogeneity of the tissue, such as the co-occurrence matrix-based entropy and angular second moment, and also the run-length matrix-based parameters of gray-level non-uniformity, short run emphasis and long run emphasis. This study demonstrates the usability of 3D TA for extracting additional information from MR images. Textural alterations which suggest complex, coarse and heterogeneous appearance were found bilaterally in the thalamus, supporting the previous literature on thalamic pathology in EPM1. The observed putamenal involvement is a novel finding. Our results encourage further studies on the clinical applications, feasibility, reproducibility and reliability of 3D TA.

  5. Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy

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    Otto Manninen

    2015-12-01

    Full Text Available Progressive myoclonus epilepsy of Unverricht–Lundborg type (EPM1 is an autosomal recessively inherited disorder characterized by incapacitating stimulus-sensitive myoclonus and tonic-clonic epileptic seizures with onset at the age of 6 to 16 years. EPM1 patients also exhibit a range of skeletal changes, e.g., thickened frontal cranial bone, arachnodactyly and scoliosis. Mutations in the gene encoding cystatin B (CSTB underlie EPM1. CSTB is an inhibitor of cysteine cathepsins, including cathepsin K, a key enzyme in bone resorption by osteoclasts. CSTB has previously been shown to protect osteoclasts from experimentally induced apoptosis and to modulate bone resorption in vitro. Nevertheless, its physiological function in bone and the cause of the bone changes in patients remain unknown. Here we used the CSTB-deficient mouse (Cstb−/− model of EPM1 to evaluate the contribution of defective CSTB protein function on bone pathology and osteoclast differentiation and function. Micro-computed tomography of hind limbs revealed thicker trabeculae and elevated bone mineral density in the trabecular bone of Cstb−/− mice. Histology from Cstb−/− mouse bones showed lower osteoclast count and thinner growth plates in long bones. Bone marrow-derived osteoclast cultures revealed lower osteoclast number and size in the Cstb−/− group. Cstb−/− osteoclasts formed less and smaller resorption pits in an in vitro assay. This impaired resorptive capacity was likely due to a decrease in osteoclast numbers and size. These data imply that the skeletal changes in Cstb−/− mice and in EPM1 patients are a result of CSTB deficiency leading to impaired osteoclast formation and consequently compromised resorptive capacity. These results suggest that the role of CSTB in osteoclast homeostasis and modulation of bone metabolism extends beyond cathepsin K regulation.

  6. Myoclonus epilepsy and ataxia due to KCNC1 mutation

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    Oliver, Karen L; Franceschetti, Silvana; Milligan, Carol J

    2017-01-01

    OBJECTIVE: To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever. METHODS: We analyzed clinical, electroclinical, and neuroimaging...

  7. Genetics Home Reference: PRICKLE1-related progressive myoclonus epilepsy with ataxia

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    ... with ataxia PRICKLE1-related progressive myoclonus epilepsy with ataxia Printable PDF Open All Close All Enable Javascript ... boxes. Description PRICKLE1 -related progressive myoclonus epilepsy with ataxia is a rare inherited condition characterized by recurrent ...

  8. The history of progressive myoclonus epilepsies.

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    Genton, Pierre; Striano, Pasquale; Minassian, Berge A

    2016-09-01

    The history of the progressive myoclonus epilepsies (PMEs) spans more than a century. However, the recent history of PMEs begins with a consensus statement published in the wake of the Marseille PME workshop in 1989 (Marseille Consensus Group, 1990). This consensus helped define the various types of PME known at the time and set the agenda for a new era of genetic research which soon lead to the discovery of many PME genes. Prior to the Marseille meeting, and before the molecular era, there had been much confusion and controversy. Because investigators had but limited and biased experience with these rare disorders due to the uneven, skewed distribution of PMEs around the world, opinions and nosologies were based on local expertise which did not match well with the experiences of other researchers and clinicians. The three major areas of focus included: (1) the nature and limits of the concept of PME in varying scopes, which was greatly debated; (2) the description of discrete clinical entities by clinicians; and (3) the description of markers (pathological, biological, neurophysiological, etc.) which could lead to a precise diagnosis of a given PME type, with, in the best cases, a reliable correlation with clinical findings. In this article, we shall also examine the breakthroughs achieved in the wake of the 1989 Marseille meeting and recent history in the field, following the identification of several PME genes. As in other domains, the molecular and genetic approach has challenged some established concepts and has led to the description of new PME types. However, as may already be noted, this approach has also confirmed the existence of the major, established types of PME, which can now be considered as true diseases.

  9. Unmasking of myoclonus by lacosamide in generalized epilepsy.

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    Birnbaum, Daniel; Koubeissi, Mohamad

    2017-01-01

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

  10. The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy : an observational prospective open-label study

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    van Egmond, Martje E.; Weijenberg, Amerins; van Rijn, Margreet E.; Elting, Jan Willem J.; Gelauff, Jeannette M.; Zutt, Rodi; Sival, Deborah A.; Lambrechts, Roald A.; Tijssen, Marina A. J.; Brouwer, Oebele F.; de Koning, Tom J.

    2017-01-01

    Background: North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myoclonus epilepsies, the efficacy of antiepileptic

  11. The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy : an observational prospective open-label study

    NARCIS (Netherlands)

    van Egmond, Martje E; Weijenberg, Amerins; van Rijn, Margreet E; Elting, Jan Willem J; Gelauff, Jeannette M; Zutt, Rodi; Sival, Deborah A; Lambrechts, Roald A; Tijssen, Marina A J; Brouwer, Oebele F; de Koning, Tom J

    2017-01-01

    BACKGROUND: North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myoclonus epilepsies, the efficacy of antiepileptic d

  12. The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy : an observational prospective open-label study

    NARCIS (Netherlands)

    van Egmond, Martje E.; Weijenberg, Amerins; van Rijn, Margreet E.; Elting, Jan Willem J.; Gelauff, Jeannette M.; Zutt, Rodi; Sival, Deborah A.; Lambrechts, Roald A.; Tijssen, Marina A. J.; Brouwer, Oebele F.; de Koning, Tom J.

    2017-01-01

    Background: North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myoclonus epilepsies, the efficacy of antiepileptic d

  13. Human stefin B normal and patho-physiological role: molecular and cellular aspects of amyloid-type aggregation of certain EPM1 mutants.

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    Mira ePolajnar

    2012-08-01

    Full Text Available Epilepsies are characterised by abnormal electrophysiological activity of the brain. Among various types of inherited epilepsies different epilepsy syndromes, among them progressive myoclonus epilepsies with features of ataxia and neurodegeneration, are counted. The progressive myoclonus epilepsy of type 1 (EPM1, also known as Unverricht-Lundborg disease presents with features of cerebellar atrophy and increased oxidative stress. It has been found that EPM1 is caused by mutations in human cystatin B gene (human stefin B. We first describe the role of protein aggregation in other neurodegenerative conditions. Protein aggregates appear intraneurally but are also excreted, such as is the case with senile plaques of amyloid- β (Aβ that accumulate in the brain parenchyma and vessel walls. A common characteristic of such diseases is the change of the protein conformation towards β secondary structure that accounts for the strong tendency of such proteins to aggregate and form amyloid fibrils. Second, we describe the patho-physiology of EPM1 and the normal and aberrant roles of stefin B in a mouse model of the disease. Furthermore, we discuss how the increased protein aggregation observed with some of the mutants of human stefin B may relate to the neurodegeneration that occurs in rare EPM1 patients. Our hypothesis (Ceru et al., 2005 states that some of the EPM1 mutants of human stefin B may undergo aggregation in neural cells, thus gaining additional toxic function (apart from loss of normal function. Our in vitro experiments thus far have confirmed that 4 mutants undergo increased aggregation relative to the wild-type protein. It has been shown that the R68X mutant forms amyloid-fibrils very rapidly, even at neutral pH and forms perinuclear inclusions, whereas the G4R mutant exhibits a prolonged lag phase, during which the toxic prefibrillar aggregates accumulate and are scattered more diffusely over the cytoplasm. Initial experiments on the G50E

  14. Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME: Probable first family from India

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    Chandra Mohan Sharma

    2014-01-01

    Full Text Available Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME is an extremely rare syndrome characterized by familial occurrence of postural and action-induced tremors of the hands but showing electrophysiologic findings of cortical reflex myoclonus. Patients also have cognitive decline and tonic-clonic seizures, often precipitated by sleep deprivation or photic stimulation. We describe probably the first family from India of this ill-defined syndrome.

  15. Myoclonus

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    ... Translational Research Research at NINDS Focus on Research Alzheimer's & Related Dementias Bioengineering Epilepsy Health Disparities Neural Interfaces Parkinson's Disease Spinal Cord Injury Stem Cells Traumatic Brain Injury Trans-Agency Activities Interagency Research ...

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

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    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.

  17. The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study.

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    van Egmond, Martje E; Weijenberg, Amerins; van Rijn, Margreet E; Elting, Jan Willem J; Gelauff, Jeannette M; Zutt, Rodi; Sival, Deborah A; Lambrechts, Roald A; Tijssen, Marina A J; Brouwer, Oebele F; de Koning, Tom J

    2017-03-07

    North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myoclonus epilepsies, the efficacy of antiepileptic drugs is disappointingly limited in North Sea Progressive Myoclonus Epilepsy. The ketogenic diet and the less restrictive modified Atkins diet have been proven to be effective in other drug-resistant epilepsy syndromes, including those with myoclonic seizures. Our aim was to evaluate the efficacy of the modified Atkins diet in patients with North Sea Progressive Myoclonus Epilepsy. Four North Sea Progressive Myoclonus Epilepsy patients (aged 7-20 years) participated in an observational, prospective, open-label study on the efficacy of the modified Atkins diet. Several clinical parameters were assessed at baseline and again after participants had been on the diet for 3 months. The primary outcome measure was health-related quality of life, with seizure frequency and blinded rated myoclonus severity as secondary outcome measures. Ketosis was achieved within 2 weeks and all patients completed the 3 months on the modified Atkins diet. The diet was well tolerated by all four patients. Health-related quality of life improved considerably in one patient and showed sustained improvement during long-term follow-up, despite the progressive nature of the disorder. Health-related quality of life remained broadly unchanged in the other three patients and they did not continue the diet. Seizure frequency remained stable and blinded rating of their myoclonus showed improvement, albeit modest, in all patients. This observational, prospective study shows that some North Sea Progressive Myoclonus Epilepsy patients may benefit from the modified Atkins diet with sustained health-related quality of life improvement. Not all our patients continued on the diet, but nonetheless we show that the modified

  18. When should MERRF (myoclonus epilepsy associated with ragged-red fibers be the diagnosis?

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    Paulo José Lorenzoni

    2014-10-01

    Full Text Available Myoclonic epilepsy associated with ragged red fibers (MERRF is a rare mitochondrial disorder. Diagnostic criteria for MERRF include typical manifestations of the disease: myoclonus, generalized epilepsy, cerebellar ataxia and ragged red fibers (RRF on muscle biopsy. Clinical features of MERRF are not necessarily uniform in the early stages of the disease, and correlations between clinical manifestations and physiopathology have not been fully elucidated. It is estimated that point mutations in the tRNALys gene of the DNAmt, mainly A8344G, are responsible for almost 90% of MERRF cases. Morphological changes seen upon muscle biopsy in MERRF include a substantive proportion of RRF, muscle fibers showing a deficient activity of cytochrome c oxidase (COX and the presence of vessels with a strong reaction for succinate dehydrogenase and COX deficiency. In this review, we discuss mainly clinical and laboratory manifestations, brain images, electrophysiological patterns, histology and molecular findings as well as some differential diagnoses and treatments.

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

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    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.

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

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    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.

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

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    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

  2. A study on epileptic negative myoclonus in atypical benign partial epilepsy of childhood.

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    Yang, Zhixian; Liu, Xiaoyan; Qin, Jiong; Zhang, Yuehua; Bao, Xinhua; Chang, Xingzhi; Wang, Shuang; Wu, Ye; Xiong, Hui

    2009-04-01

    To investigate the clinical and neurophysiological characteristics, particularly therapeutic considerations, of epileptic negative myoclonus (ENM) in atypical benign partial epilepsy (ABPE) of childhood. From 1998 to 2006, 14/242 patients with benign children epilepsy with centrotemporal spikes (BECTS) were diagnosed as having ABPE with ENM. In all 14 patients, we performed video-EEG monitoring along with tests with the patient's arms outstretched; 6/14 patients were also simultaneously underwent surface electromyogram (EMG). ENM manifestations, electrophysiological features, and responses to antiepileptic drugs were analyzed. In all cases, ENM developed after the onset of epilepsy and during antiepileptic drug therapy, and the appearance of ENM were corresponding to EEG findings of high-amplitude spikes followed by a slow wave in the contralateral motor areas with secondary generalization. This was further confirmed by time-locked silent EMG. During ENM occurrence or recurrence, habitual seizures and interictal discharges were exaggerated. In some patients, the changes in antiepileptic drug regimens in relation to ENM appearance included add-on therapy with carbamazepine, oxcarbazepine, and phenobarbital or withdrawal of valproate. ENM was controlled in most cases by administration of various combinations of valproate, clonazepam, and corticosteroids. The incidence of ENM or ABPE in our center was approximately 5.79%. A combination of video-EEG monitoring with the patient's arms outstretched and EMG is essential to identify ENM. The aggravation of habitual seizures and interictal discharges indicate ENM. Some antiepileptic drugs, such as carbamazepine, oxcarbazepine, and phenobarbital, may be related to ENM occurrence during spontaneous aggravation of ABPE. Various combinations of valproate, benzodiazepines, and corticosteroids are relatively effective for treating ENM that occurs in ABPE.

  3. Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.

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    Oliver, Karen L; Franceschetti, Silvana; Milligan, Carol J; Muona, Mikko; Mandelstam, Simone A; Canafoglia, Laura; Boguszewska-Chachulska, Anna M; Korczyn, Amos D; Bisulli, Francesca; Di Bonaventura, Carlo; Ragona, Francesca; Michelucci, Roberto; Ben-Zeev, Bruria; Straussberg, Rachel; Panzica, Ferruccio; Massano, João; Friedman, Daniel; Crespel, Arielle; Engelsen, Bernt A; Andermann, Frederick; Andermann, Eva; Spodar, Krystyna; Lasek-Bal, Anetta; Riguzzi, Patrizia; Pasini, Elena; Tinuper, Paolo; Licchetta, Laura; Gardella, Elena; Lindenau, Matthias; Wulf, Annette; Møller, Rikke S; Benninger, Felix; Afawi, Zaid; Rubboli, Guido; Reid, Christopher A; Maljevic, Snezana; Lerche, Holger; Lehesjoki, Anna-Elina; Petrou, Steven; Berkovic, Samuel F

    2017-05-01

    To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever. We analyzed clinical, electroclinical, and neuroimaging data for 20 patients with MEAK due to recurrent KCNC1 p.R320H mutation. In vitro electrophysiological studies were conducted using whole cell patch-clamp to explore biophysical properties of wild-type and mutant KV 3.1 channels. Symptoms began at between 3 and 15 years of age (median = 9.5), with progressively severe myoclonus and rare tonic-clonic seizures. Ataxia was present early, but quickly became overshadowed by myoclonus; 10 patients were wheelchair-bound by their late teenage years. Mild cognitive decline occurred in half. Early death was not observed. Electroencephalogram (EEG) showed generalized spike and polyspike wave discharges, with documented photosensitivity in most. Polygraphic EEG-electromyographic studies demonstrated a cortical origin for myoclonus and striking coactivation of agonist and antagonist muscles. Magnetic resonance imaging revealed symmetrical cerebellar atrophy, which appeared progressive, and a prominent corpus callosum. Unexpectedly, transient clinical improvement with fever was noted in 6 patients. To explore this, we performed high-temperature in vitro recordings. At elevated temperatures, there was a robust leftward shift in activation of wild-type KV 3.1, increasing channel availability. MEAK has a relatively homogeneous presentation, resembling Unverricht-Lundborg disease, despite the genetic and biological basis being quite different. A remarkable improvement with fever may be explained by the temperature-dependent leftward shift in activation of wild-type KV 3.1 subunit-containing channels, which would counter the loss of function observed for mutant channels, highlighting KCNC1 as a potential target for precision therapeutics. Ann Neurol 2017

  4. Opsoclonus Myoclonus

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    ... unsteady, trembling gait, myoclonus (brief, shock-like muscle spasms), and opsoclonus (irregular, rapid eye movements). Other symptoms ... unsteady, trembling gait, myoclonus (brief, shock-like muscle spasms), and opsoclonus (irregular, rapid eye movements). Other symptoms ...

  5. Symptomatic myoclonus.

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    Borg, M

    2006-01-01

    A huge number of neurological disorders are associated with myoclonus. This paper describes these disorders whose diagnosis partly relies on the presence of myoclonus. The diagnostic approach is related to certain clinical features of myoclonus, which, after their integration in the clinical context, help orientate towards diagnosis. Myoclonus is frequent during dementia. Although its presence is well-known to take part in the diagnosis of Creutzfeldt-Jakob disease (CJD), myoclonus can also be present to a significant degree in Alzheimer's disease and Lewy body dementia (LBD), which raises a diagnostic issue. Both its clinical and electrophysiological features may help differential diagnosis, given that myoclonus with fast-evolving dementia and focal neurological signs should favor the diagnosis of CJD. Myoclonus in a context of progressive ataxia suggests one clinical form of the Ramsay-Hunt syndrome (progressive myoclonic ataxia, PMA), whose most frequent causes are: coeliac disease, mitochondriopathies, some spino-cerebellar degenerations, and some late metabolic disorders. In addition to ataxia and myoclonus, the presence of opsoclonus directs diagnosis toward the opsoclonus-myoclonus syndrome (OMS), whose origin, in adult, is idiopathic or paraneoplastic. Palatal tremor (myoclonus) with ataxia may represent either a sporadic pattern, which often reflects the evolution of degenerative or lesional disorders, or a familial pattern in some degenerative affections or metabolic diseases. Of more recent knowledge is the association of progressive ataxia, myoclonus, and renal failure, which corresponds to a recessive autosomic disease. In a context of encephalopathy, myoclonus is frequent in metabolic or hydro-electrolytic disorders, and in brain anoxia. One should distinguish these various forms of myoclonus which may occur in the acute post-anoxic phase, from those occurring as sequels at a later stage, i.e. the Lance and Adams syndrome whose clinical aspects are

  6. SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.

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    Liao, Y; Anttonen, A-K; Liukkonen, E; Gaily, E; Maljevic, S; Schubert, S; Bellan-Koch, A; Petrou, S; Ahonen, V E; Lerche, H; Lehesjoki, A-E

    2010-10-19

    Inherited and de novo mutations in sodium channel genes underlie a variety of channelopathies. Mutations in SCN2A, encoding the brain sodium channel Na(V)1.2, have previously been reported to be associated with benign familial neonatal infantile seizures, febrile seizures plus, and intractable epilepsy of infancy. We evaluated the clinical characteristics in a patient with a neonatal-onset complex episodic neurologic phenotype. We screened SCN2A for mutations and carried out in vitro electrophysiologic analyses to study the consequences of the identified mutation. We studied the developmental expression of Na(V)1.2 in cerebellum by immunohistochemical analysis. The patient presented with neonatal-onset seizures and variable episodes of ataxia, myoclonia, headache, and back pain after 18 months of age. The patient carries a de novo missense mutation (p.Ala263Val) in SCN2A, which leads to a pronounced gain-of-function, in particular an increased persistent Na(+) current. Immunohistochemical studies suggest a developmentally increasing expression of Na(V)1.2 in granule cell axons projecting to Purkinje neurons. These results can explain a neuronal hyperexcitability resulting in seizures and other episodic symptoms extending the spectrum of SCN2A-associated phenotypes. The developmentally increasing expression of Na(V)1.2 in cerebellum may be responsible for the later onset of episodic ataxia.

  7. [Myoclonus in the adult: diagnostic approach].

    Science.gov (United States)

    Vercueil, L; Krieger, J

    2001-02-01

    Myoclonus, defined as shock-like involuntary movement, may be physiological or caused by a very wide variety of hereditary and acquired conditions. Because myoclonus can originate from different disorders and lesions affecting quite varied levels of the central and peripheral nervous systems, it represents from many points of view a diagnostic challenge. Moreover, new entities have been recently individualized, such as cortical tremor, which deserve renewed attention. The aim of this review is to propose a rationale for a diagnostic approach based on clinical and electrophysiological grounds. In this setting, we successively address 1) the clinical features allowing a positive diagnosis of myoclonus; 2) the clinical clues to the etiology; 3) the relevance of the clinical context to the diagnosis; and 4) the contribution of neurophysiology. Differentiating myoclonus from tics, spasm, chorea and dystonia can be difficult, and a careful reappraisal of clinical features allowing precise identification is presented. Moreover, the topographical distribution of myoclonus, the temporal pattern of muscle recruitment, the condition of occurrence and the rhythm of the event, may provide clinical clues relevant to the diagnosis. Myoclonus without associated epilepsy, myoclonus with epilepsy, myoclonus with encephalopathy, parkinsonism and/or dementia represent overlapping clinical categories, although they remain useful for the diagnostic approach. Using electrophysiology (including back-averaging EEG, MEG, SEP, C-reflex studies) to determine the origin of myoclonus may not allow us to focus on the underlying condition. Indeed, in many instances, the myoclonus is cortical in origin, but the pathology is found elsewhere.

  8. Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2.

    Science.gov (United States)

    Guerrini, R; Bonanni, P; Patrignani, A; Brown, P; Parmeggiani, L; Grosse, P; Brovedani, P; Moro, F; Aridon, P; Carrozzo, R; Casari, G

    2001-12-01

    We describe a pedigree in which eight individuals presented with a non-progressive disorder with onset between the ages of 12 and 50 years. It was characterized by predominantly distal, semi-continuous rhythmic myoclonus (all patients), generalized tonic-clonic seizures (all patients) and complex partial seizures (three patients). Most individuals had rarely suffered seizures and had a normal cognitive level, but three individuals with intractable seizures had mild mental retardation. The pattern of inheritance was autosomal dominant with high penetrance. We defined this disorder as autosomal dominant cortical myoclonus and epilepsy (ADCME). All patients had frontotemporal as well as generalized interictal EEG abnormalities. A neurophysiological study of the myoclonus suggested a cortical origin. Back-averaging of the data generated a series of waves with a frequency that mirrored the frequency of EMG bursts. Frequency analysis identified significant peaks with coherence between EMG and EEG, which were recorded over the contralateral rolandic area in five patients. The frequency of coherence was 8-25 Hz and phase spectra confirmed that EEG activity preceded EMG activity by 8-15 ms. In two individuals there was also significant coherence between the ipsilateral EEG and EMG, consistent with the transcallosal spread of myoclonic activity. The C-reflex at rest was enhanced and somatosensory and visual evoked potentials were of high amplitude. The resting motor threshold intensity to transcranial magnetic stimulation was significantly reduced (38%; SD +/- 7; P = 0.01) and the post-motor evoked potential silent period (101 ms; SEM +/- 10) was significantly shortened compared with the controls (137 ms; SEM +/- 18). These clinical and neuro- physiological characteristics suggest diffuse cortical hyperexcitability and high propensity for intra-hemispheric and inter-hemispheric cortical spread, as well as rhythmic myoclonic activity. Genome-wide linkage analysis identified a

  9. Piracetam relieves symptoms in progressive myoclonus epilepsy: a multicentre, randomised, double blind, crossover study comparing the efficacy and safety of three dosages of oral piracetam with placebo

    Science.gov (United States)

    Koskiniemi, M.; Van Vleymen, B.; Hakamies, L.; Lamusuo, S.; Taalas, J.

    1998-01-01

    OBJECTIVE—To compare the efficacy, tolerability, and safety of three daily dosage regimens of oral piracetam in patients with progressive myoclonus epilepsy.
METHODS—Twenty patients (12 men, eight women), aged 17-43 years, with classical Unverricht-Lundborg disease were enrolled in a multicentre, randomised, double blind trial of crossover design in which the effects of daily doses of 9.6 g, 16.8 g, and 24 g piracetam, given in two divided doses, were compared with placebo. The crossover design was such that patients received placebo and two of the three dosage regimens of piracetam, each for two weeks, for a total treatment period of six weeks and thus without wash out between each treatment phase. The primary outcome measure was a sum score representing the adjusted total of the ratings of six components of a myoclonus rating scale in which stimulus sensitivity, motor impairment, functional disability, handwriting, and global assessments by investigators and patients were scored. Sequential clinical assessments were made by the same neurologist in the same environment at the same time of day.
RESULTS—Treatment with 24 g/day piracetam produced significant and clinically relevant improvement in the primary outcome measure of mean sum score (p=0.005) and in the means of its subtests of motor impairment (p=0.02), functional disability (p=0.003), and in global assessments by both investigator (p=0.002) and patient (p=0.01). Significant improvement in functional disability was also found with daily doses of 9.6 g and 16.8 g. The dose-effect relation was linear and significant. More patients showed clinically relevant improvement with the highest dosage and, in individual patients, increasing the dose improved response. Piracetam was well tolerated and adverse effects were few, mild, and transient.
CONCLUSIONS—This study provides further evidence that piracetam is an effective and safe medication in patients with Unverricht-Lundborg disease. In addition

  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. Cortical myoclonus and cerebellar pathology

    NARCIS (Netherlands)

    Tijssen, MAJ; Thom, M; Ellison, DW; Wilkins, P; Barnes, D; Thompson, PD; Brown, P

    2000-01-01

    Objective To study the electrophysiologic and pathologic findings in three patients with cortical myoclonus. In two patients the myoclonic ataxic syndrome was associated with proven celiac disease. Background: The pathologic findings in conditions associated with cortical myoclonus commonly involve

  13. Epileptic palatal myoclonus

    Energy Technology Data Exchange (ETDEWEB)

    Tatum, W.O.; Sperling, M.R.; Jacobstein, J.G. (Graduate Hospital, Philadelphia, PA (USA))

    1991-08-01

    Palatal myoclonus (PM) is usually caused by lesions of the brainstem. The authors report a case of PM of focal cortical origin in a patient with epilepsia partialis continua. The PM sometimes occurred in isolation, and at other times was accompanied by unilateral face, neck, and arm twitching. This was documented by both EEG and SPECT.

  14. 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 ...

  15. 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, ...

  16. 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 ...

  17. Spinal myoclonus resembling belly dance.

    Science.gov (United States)

    Kono, I; Ueda, Y; Araki, K; Nakajima, K; Shibasaki, H

    1994-05-01

    A 63-year-old man presented with an 11-month history of progressive myoclonus in the right abdominal wall. Administration of clonazepam reduced the frequency and amplitude. When the therapy was discontinued, the frequency and amplitude of the myoclonus increased, and synchronous and weak myoclonus also was observed in the left abdomen. The trunk was twisted just after the appearance of the abdominal myoclonus associated with myoclonic jerks spreading from the rostral to caudal paraspinal muscles. Later in the clinical course, the myoclonus became stimulus sensitive and was induced by tendon tap given anywhere on the body, with the latency ranging from 50 to 150 ms irrespective of the sites of tapping. Myoclonus seen in the abdominal wall was segmental and considered to be of spinal origin. The reflex myoclonus had a 150-ms refractory period. It can be postulated that increased excitability of anterior horn cells at a certain segment might make a spino-bulbo-spinal reflex manifest at the corresponding segment. This myoclonus is considered to be a new form of spinal reflex myoclonus, because the abdominal myoclonic jerk seems to trigger another myoclonic jerk involving the paraspinal muscles.

  18. 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....

  19. A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome

    DEFF Research Database (Denmark)

    Drivenes, Bergitte; Born, Alfred Peter; Ek, Jakob

    2015-01-01

    INTRODUCTION: DYT11 is an autosomal dominant inherited movement disorder characterized by myoclonus and dystonia. CLINICAL PRESENTATION: We present a case with atypical symptoms and with episodes of ataxia and myoclonus preceded by infections. Atypical presentation of opsoclonus myoclonus syndrome...

  20. 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

  1. 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,

  2. Cortical myoclonus in Huntington's disease.

    Science.gov (United States)

    Thompson, P D; Bhatia, K P; Brown, P; Davis, M B; Pires, M; Quinn, N P; Luthert, P; Honovar, M; O'Brien, M D; Marsden, C D

    1994-11-01

    We describe three patients with Huntington's disease, from two families, in whom myoclonus was the predominant clinical feature. The diagnosis was confirmed at autopsy in two cases and by DNA analysis in all three. These patients all presented before the age of 30 years and were the offspring of affected fathers. Neurophysiological studies documented generalised and multifocal action myoclonus of cortical origin that was strikingly stimulus sensitive, without enlargement of the cortical somatosensory evoked potential. The myoclonus improved with piracetam therapy in one patient and a combination of sodium valproate and clonazepam in the other two. Cortical reflex myoclonus is a rare but disabling component of the complex movement disorder of Huntington's disease, which may lead to substantial diagnostic difficulties.

  3. A Case of Hemiabdominal Myoclonus.

    Science.gov (United States)

    Nociti, Viviana; Servidei, Serenella; Luigetti, Marco; Iorio, Raffaele; Lo Monaco, Mauro; Mirabella, Massimiliano; Frisullo, Giovanni; Della Marca, Giacomo

    2015-10-01

    Myoclonus consists of sudden, brief, involuntary jerky muscular contractions. Central and peripheral nervous system lesions are involved in the pathogenesis of this movement disorder. Symptomatic or secondary spinal myoclonus is the most common form. A 68-year-old woman was diagnosed with hemiabdominal spinal myoclonus. Occasional and very mild involuntary repetitive movements of the hemiabdomen began immediately after surgery for uterine cancer. After surgery for laparocele, secondary to the uterine cancer surgery, performed under spinal anesthesia, there was severe worsening of movements. Neuroradiological investigations failed to demonstrate spinal injury, while neurophysiological studies showed impairment of the right central somatosensory pathway. Considering the low resolution of magnetic resonance imaging in the evaluation of thoracic level, we suggest an extensive neurophysiological evaluation in patients with spinal myoclonus.

  4. 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

  5. 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.

  6. Progressive myoclonic epilepsy type 1: Report of an Emirati family and literature review

    Directory of Open Access Journals (Sweden)

    Mohammed Saadah

    2014-01-01

    Conclusions: This is the first to report a family with EPM1 in UAE. Our study emphasized a particular phenotype expressed as earlier disease onset, severe myoclonus, and generalized seizures. Cognitive, cerebellar, motor, and autonomic dysfunctions and brain atrophy were also earlier at onset and more severe than previously reported. Recurrent viral infections are another unique feature. This constellation in tout à fait was not previously reported in the literature.

  7. Familial cortical tremor with epilepsy and cerebellar pathological findings

    NARCIS (Netherlands)

    van Rootselaar, AF; Aronica, E; Steur, ENHJ; Rozemuller-Kwakkel, JM; de Vos, RAI; Tijssen, MAJ

    The clinical and neuropathological findings in a patient with familial cortical tremor with epilepsy (FCTE) are described. Clinically, the patient showed cortical myoclonus, tremor, and generalized seizures. Pathological investigation showed cerebellar degeneration and somal sprouting and loss of

  8. Electroencephalographic Findings in Posthypoxic Myoclonus

    NARCIS (Netherlands)

    van Zijl, J C; Beudel, M; van der Hoeven, H J; Lange, F; Tijssen, M A J; Elting, J W J

    2015-01-01

    The physical examination findings of early posthypoxic myoclonus (PHM) are associated with poor prognosis. Recent findings indicate that patients with multifocal PHM, assumed to have a cortical origin, have a comparable outcome to resuscitated patients without PHM. Generalized PHM, assumed to have a

  9. FOCAL EPILEPTIC MYOCLONUS: DIFFERENTIAL DIAGNOSIS AND PROGNOSIS

    Directory of Open Access Journals (Sweden)

    N. E. Kvaskova

    2014-01-01

    Full Text Available The paper describes the clinical, electroencephalographic (EEG, and neuroimaging features of focal epileptic myoclonus (FEM and the results of therapy in patients with this type of seizure. The latter was identified in 2.5 % of the cases of epilepsy with onset beyond the age of 18 years (n = 1261. The age of onset of FЕМ was from 5 months to 23 years (mean 8.1 ± 1.6 years. The addition of secondary generalized seizures was stated in 90.3% of cases; that of focal motor seizures, epileptic aura, and negative FЕМ was seen in 64.5, 25.8, and 12.8 %, respectively. FЕМ was most commonly located in the flexor muscles of the upper extremities (22.6 % and facial and upper limb muscles (25.6 %. The regional epileptoformactivity maximally located in the frontocentroparietal leads is a typical EEG pattern of FЕМ in all the patients. Magnetic resonance imaging most frequently revealed diffuse cortical and subcortical atrophy (29 % and total cortical hemiatrophy (32 %. There was no case of complete remission of FЕМ. Monotherapy with antiepileptic drugs (AEDs resulted in reduction of FЕМ in only 6.4 % of cases. During duo therapy, there was more than a 50 % reduction in FЕМ in 67.7 %. Our investigation has indicated that active FЕМ is a seizure type resistant to AEDs. This fact necessitates the detection of FЕМ at its early stages in order to predict the course of the disease and search for new therapies for epileptic syndromes associated with this type of seizures.

  10. Elemental mercury poisoning probably causes cortical myoclonus.

    Science.gov (United States)

    Ragothaman, Mona; Kulkarni, Girish; Ashraf, Valappil V; Pal, Pramod K; Chickabasavaiah, Yasha; Shankar, Susarla K; Govindappa, Srikanth S; Satishchandra, Parthasarthy; Muthane, Uday B

    2007-10-15

    Mercury toxicity causes postural tremors, commonly referred to as "mercurial tremors," and cerebellar dysfunction. A 23-year woman, 2 years after injecting herself with elemental mercury developed disabling generalized myoclonus and ataxia. Electrophysiological studies confirmed the myoclonus was probably of cortical origin. Her deficits progressed over 2 years and improved after subcutaneous mercury deposits at the injection site were surgically cleared. Myoclonus of cortical origin has never been described in mercury poisoning. It is important to ask patients presenting with jerks about exposure to elemental mercury even if they have a progressive illness, as it is a potentially reversible condition as in our patient.

  11. Myoclonus

    Science.gov (United States)

    ... have shown that doses of 5-hydroxytryptophan (5-HTP), a building block of serotonin, leads to improvement ... and PME. However, other studies indicate that 5-HTP therapy is not effective in all people with ...

  12. Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia

    NARCIS (Netherlands)

    Foncke, E M J; Gerrits, M C F; van Ruissen, F; Baas, F; Hedrich, K; Tijssen, C C; Klein, C; Tijssen, M A J

    2006-01-01

    We report a large myoclonus-dystonia (M-D) pedigree with a two-base pair deletion in Exon 5 of the epsilon-sarcoglycan gene. Three individuals had onset after age 40 years. Distal myoclonus of the arms was present in all 20 symptomatic mutation carriers. These findings expand the known phenotype of

  13. Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia

    NARCIS (Netherlands)

    Foncke, E M J; Gerrits, M C F; van Ruissen, F; Baas, F; Hedrich, K; Tijssen, C C; Klein, C; Tijssen, M A J

    2006-01-01

    We report a large myoclonus-dystonia (M-D) pedigree with a two-base pair deletion in Exon 5 of the epsilon-sarcoglycan gene. Three individuals had onset after age 40 years. Distal myoclonus of the arms was present in all 20 symptomatic mutation carriers. These findings expand the known phenotype of

  14. A novel diagnostic approach to patients with myoclonus

    NARCIS (Netherlands)

    Zutt, Rodi; van Egmond, Martje E.; Elting, Jan Willem; van Laar, Peter Jan; Brouwer, Oebele F.; Sival, Deborah A.; Kremer, Hubertus P.; de Koning, Tom J.; Tijssen, Marina A.

    2015-01-01

    Myoclonus is a hyperkinetic movement disorder characterized by brief, involuntary muscular jerks. Recognition of myoclonus and determination of the underlying aetiology remains challenging given that both acquired and genetically determined disorders have varied manifestations. The diagnostic work-u

  15. Therapeutic Developments for Tics and Myoclonus.

    Science.gov (United States)

    Jankovic, Joseph

    2015-09-15

    Tics and myoclonus are phenomenologically similar given that both are jerk-like movements, but, in contrast to myoclonus, tics are often preceded by premonitory sensations and are typically associated with a variety of behavioral comorbidities, including attention deficit and obsessive-compulsive disorder. There are many other clinical features that help differentiate these two hyperkinetic disorders. Whereas behavioral and antidopaminergic therapies are most effective in the management of tics, clonazepam, other anticonvulsants, and serotonergic drugs are often used to control myoclonic movements. Botulinum toxin may also be helpful in focal tics and in segmental forms of myoclonus. DBS plays an increasingly important role in the treatment of these disorders, particularly when they are generalized and are disabling despite optimal medical therapy.

  16. Spinal myoclonus: report of four cases

    Directory of Open Access Journals (Sweden)

    James Pitágoras de Mattos

    1993-11-01

    Full Text Available Four cases of spinal myoclonus are described, three males and one female. The mean age was 51 years (28-75 years. The mean time between the onset of the myelopathy and the myoclonic jerks was 4.3 months (1-8 months. The involuntary movements were determined by trauma, Devic's disease, tuberculous myelopathy and tumor. Three patients had spastic paraplegia with bilateral myoclonus more evident on the right side. The fourth patient had a flaccid paraplegia with symmetrical jerks. The data suggest that different processes (trauma, demyelinating, infection and tumor affecting the spinal cord may cause the same type of involuntary movements.

  17. Acute posthypoxic myoclonus after cardiopulmonary resuscitation

    NARCIS (Netherlands)

    Bouwes, Aline; van Poppelen, Daniel; Koelman, Johannes H. T. M.; Kuiper, Michael A.; Zandstra, Durk F.; Weinstein, Henry C.; Tromp, Selma C.; Zandbergen, Eveline G. J.; Tijssen, Marina A. J.; Horn, Janneke

    2012-01-01

    Background: Acute posthypoxic myoclonus (PHM) can occur in patients admitted after cardiopulmonary resuscitation (CPR) and is considered to have a poor prognosis. The origin can be cortical and/or subcortical and this might be an important determinant for treatment options and prognosis. The aim of

  18. The prognosis of idiopathic generalized epilepsy.

    Science.gov (United States)

    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.

  19. Ligation of the left renal vein in epm1-wistar rats: functional and morphologic alterations in the kidneys, testes and suprarenal glands

    Directory of Open Access Journals (Sweden)

    José Carlos Costa Baptista-Silva

    Full Text Available OBJECTIVE: The ligation of the left renal vein (LLVR in man is a contraversial procedure in view of the risks of lesion to the renal parenchyma. With the objective of studying the morphologic and functional alterations caused by these lesions, we conducted experimental research with rats. MATERIAL AND METHODS: 64 male adult EPM1-WISTAR rats were used, divided into 8 groups - 4 for LLRV and four for control. Each LLRV group and corresponding control group were sacrificed progressively on the 7th, 15th, 30th and 60th day after the initial surgery. RESULTS: We found morphofunctional alterations only in animals that underwent LLRV in the four periods of sacrifice.The proteinuria creatinine in serum, testosterone in serum and serum corticosterone in serum showed practically no alteration in relation to the normal values for rats. Statistically significant severe histological lesions were found in the kidneys and testes of the LLRV groups. Lesions in the suprarenal glands were also present in these groups, but no sufficient to demonstrate statistical significance CONCLUSION: Based on these results we can conclude that the ligation of the left renal vein is a procedure of high risk in these animals.

  20. Levetiracetam reduces myoclonus in corticobasal degeneration: report of two cases.

    Science.gov (United States)

    Kovács, Tibor; Farsang, Marianna; Vitaszil, Edina; Barsi, Péter; Györke, Tamás; Szirmai, Imre; Kamondi, Anita

    2009-12-01

    Levetiracetam (LEV) has been shown to suppress myoclonus of various origins. Corticobasal degeneration (CBD), a progressive neurodegenerative disorder with Parkinsonian syndrome, is frequently accompanied by myoclonus. We investigated the effect of LEV on myoclonus in two CBD patients. LEV remarkably decreased the myoclonic activity in both patients already at 1,500 mg/day dose. This is the first report on LEV alleviating myoclonus in CBD. Our data indicate that it might be worthwhile to assess this effect in an appropriately designed study.

  1. Familial cortical myoclonic tremor with epilepsy : A single syndromic classification for a group of pedigrees bearing common features

    NARCIS (Netherlands)

    van Rootselaar, AF; van Schaik, IN; van den Maagdenberg, AMJM; Koelman, JHTM; Callenbach, PMC; Tijssen, MAJ

    2005-01-01

    Fifty Japanese and European families with cortical myoclonic tremor and epilepsy have been reported under various names. Unfamiliarity with the syndrome often leads to an initial misdiagnosis of essential tremor or progressive myoclonus epilepsy. A detailed overview of the literature is lacking and

  2. Psychiatric disorders, myoclonus dystonia and SGCE : an international study

    NARCIS (Netherlands)

    Peall, Kathryn J; Dijk, Joke M; Saunders-Pullman, Rachel; Dreissen, Yasmine E M; van Loon, Ilke; Cath, Danielle|info:eu-repo/dai/nl/194111423; Kurian, Manju A; Owen, Michael J; Foncke, Elisabeth M J; Morris, Huw R; Gasser, Thomas; Bressman, Susan; Asmus, Friedrich; Tijssen, Marina A J

    OBJECTIVE: Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder, typically alcohol-responsive upper body myoclonus and dystonia. The majority of autosomal dominant familial cases are caused by epsilon-sarcoglycan gene (SGCE) mutations. Previous publications have observed increased rates of

  3. Psychiatric disorders, myoclonus dystonia and SGCE : an international study

    NARCIS (Netherlands)

    Peall, Kathryn J; Dijk, Joke M; Saunders-Pullman, Rachel; Dreissen, Yasmine E M; van Loon, Ilke; Cath, Danielle; Kurian, Manju A; Owen, Michael J; Foncke, Elisabeth M J; Morris, Huw R; Gasser, Thomas; Bressman, Susan; Asmus, Friedrich; Tijssen, Marina A J

    2016-01-01

    OBJECTIVE: Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder, typically alcohol-responsive upper body myoclonus and dystonia. The majority of autosomal dominant familial cases are caused by epsilon-sarcoglycan gene (SGCE) mutations. Previous publications have observed increased rates of p

  4. SCA13 causes dominantly inherited non-progressive myoclonus ataxia.

    Science.gov (United States)

    Montaut, Solveig; Apartis, Emmanuelle; Chanson, Jean-Baptiste; Ewenczyk, Claire; Renaud, Mathilde; Guissart, Claire; Muller, Jean; Legrand, André Pierre; Durr, Alexandra; Laugel, Vincent; Koenig, Michel; Tranchant, Christine; Anheim, Mathieu

    2017-05-01

    Spinocerebellar ataxia 13 (SCA13) is a rare autosomal dominant cerebellar ataxia. To our knowledge, its association to movement disorders has never been described. We aimed at reporting 8 new SCA13 cases with a focus on movement disorders especially myoclonus. We performed a detailed neurological examination and neurophysiological recording in 8 patients consecutively diagnosed with SCA13 between December 2013 and October 2015 and followed up in two French tertiary centers. We identified mild subcortical myoclonus in all patients, with a homogenous clinical and electrophysiological pattern. Myoclonus ataxia was very slowly progressive, like the other symptoms of the disease, whatever the age of onset. Patients with R423H mutation had an earlier age of onset than patients with R420H mutation. Myoclonus appears to be frequent in SCA13. SCA13 should be considered facing non-progressive autosomal dominant myoclonus ataxia, and polymyographic recording should be included in the diagnosis work. Copyright © 2017 Elsevier Ltd. All rights reserved.

  5. 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: ...

  6. "Selfie-epilepsy": A novel photosensitivity.

    Science.gov (United States)

    Brna, P M; Gordon, K G

    2017-04-01

    Photosensitivity is a well-described phenomenon; affecting a relatively small proportion of individuals with epilepsy. Typically people with photosensitive epilepsies are at risk of seizures induced by shimmering natural light, strobe lights and with particular patterns or flicker frequencies on television and video games. We present a novel case of photosensitivity captured during video EEG monitoring showing reproducible photosensitivity with the ever-popular social phenomenon; the "selfie." The patient had previously demonstrated photosensitive myoclonus with intermittent photic stimulation on routine EEG. This case suggests that taking "selfies" may represent a new area of caution for those with photosensitive epilepsies. Copyright © 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  7. Spinal myoclonus following a peripheral nerve injury: a case report

    Directory of Open Access Journals (Sweden)

    Erkol Gokhan

    2008-08-01

    Full Text Available Abstract Spinal myoclonus is a rare disorder characterized by myoclonic movements in muscles that originate from several segments of the spinal cord and usually associated with laminectomy, spinal cord injury, post-operative, lumbosacral radiculopathy, spinal extradural block, myelopathy due to demyelination, cervical spondylosis and many other diseases. On rare occasions, it can originate from the peripheral nerve lesions and be mistaken for peripheral myoclonus. Careful history taking and electrophysiological evaluation is important in differential diagnosis. The aim of this report is to evaluate the clinical and electrophysiological characteristics and treatment results of a case with spinal myoclonus following a peripheral nerve injury without any structural lesion.

  8. Non-epileptic myoclonus and mitochondrial encephalomyopathy

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    A. Cukiert

    1989-09-01

    Full Text Available Two brothers presented to us with a progressive myoclonic syndrome with slight cerebellar symptoms. Neurological examination disclosed moderate cerebellar signs and pale optic discs; asymmetric, asynchronous and arhythmic myoclonus, an arthresthesic deficit and no muscular weakness. EEG background activity was moderately slow with no irritative discharges. CT was normal in both cases, Intermitent photic stimulation increased the frequency of the myoclonic jerks, which became bilateral and synchronous, progressing to a generalized tonic-clonic seizure. EPs and MRI in one case were normal. Anticonvulsant drugs were ineffective. The diagnosis of mitochondrial encephalomyopathy was based on the finding, in muscle specimens, of thickened basement membranes with myofibrillary degeneration and increased number of mitochondria peripherally distributed and with a dense granular matrix and some vacuoles. The clinical and EEG data suggest a. subcortical origin for this type of myoclonic syndrome.

  9. Essential palatal myoclonus following dental surgery: a case report

    OpenAIRE

    Lam, Jeff H; Fullarton, Mairi E; Bennett, Alex MD

    2013-01-01

    Introduction Various presentations of essential palatal myoclonus, a condition characterized by clicking noises and palatal muscle spasm, have been reported in the literature. We are reporting the first case of essential palatal myoclonus following dental treatment. Case presentation A 31-year-old Caucasian man presented to our Ear, Nose and Throat department complaining of objective clicking tinnitus occurring immediately after he had undergone root canal treatment on his right lower third m...

  10. Adult-onset opsoclonus-myoclonus syndrome.

    Science.gov (United States)

    Klaas, James P; Ahlskog, J Eric; Pittock, Sean J; Matsumoto, Joseph Y; Aksamit, Allen J; Bartleson, J D; Kumar, Rajeev; McEvoy, Kathleen F; McKeon, Andrew

    2012-12-01

    BACKGROUND Little is known about adult-onset opsoclonus-myoclonus syndrome (OMS) outside of individual case reports. OBJECTIVE To describe adult-onset OMS. DESIGN Review of medical records (January 1, 1990, through December 31, 2011), prospective telephone surveillance, and literature review (January 1, 1967, through December 31, 2011). SETTING Department of Neurology, Mayo Clinic, Rochester, Minnesota. PATIENTS Twenty-one Mayo Clinic patients and 116 previously reported patients with adult-onset OMS. MAIN OUTCOME MEASURES Clinical course and longitudinal outcomes. RESULTS The median age at onset of the 21 OMS patients at the Mayo Clinic was 47 years (range, 27-78 years); 11 were women. Symptoms reported at the first visit included dizziness, 14 patients; balance difficulties, 14; nausea and/or vomiting, 10; vision abnormalities, 6; tremor/tremulousness, 4; and altered speech, 2. Myoclonus distribution was extremities, 15 patients; craniocervical, 8; and trunk, 4. Cancer was detected in 3 patients (breast adenocarcinoma, 2; and small cell lung carcinoma, 1); a parainfectious cause was assumed in the remainder of the patients. Follow-up of 1 month or more was available for 19 patients (median, 43 months; range, 1-187 months). Treatment (median, 6 weeks) consisted of immunotherapy and symptomatic therapy in 16 patients, immunotherapy alone for 2, and clonazepam alone for 1. Of these 19 patients, OMS remitted in 13 and improved in 3; 3 patients died (neurologic decline, 1; cancer, 1; and myocardial infarction, 1). The cause of death was of paraneoplastic origin in 60 of 116 literature review patients, with the most common carcinomas being lung (33 patients) and breast (7); the most common antibody was antineuronal nuclear antibody type 2 (anti-Ri, 15). Other causes were idiopathic in origin, 38 patients; parainfectious, 15 (human immunodeficiency virus, 7); toxic/metabolic, 2; and other autoimmune, 1. Both patients with N -methyl-D-aspartate receptor antibody had

  11. A case of primary spinal myoclonus: clinical presentation and possible mechanisms involved

    OpenAIRE

    Campos Cynthia Resende; Limongi João Carlos Papaterra; Machado Flávia Costa Nunes; Brotto Mário Wilson Iervolino

    2003-01-01

    Spinal myoclonus is a rare movement disorder characterized by myoclonic involvement of a group of muscles supplied by a few contiguous segments of the spinal cord. Structural lesions are usually the cause, but in primary spinal myoclonus the etiology remains unknown. We present the case of a 26-year-old woman with cervical spinal myoclonus in which both clinical and electromyographic findings pointed to the segment C1-C3 as the origin of the myoclonus. Laboratorial examinations were normal an...

  12. 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 ...

  13. Electrophysiologic Assessments of Involuntary Movements: Tremor and Myoclonus

    Directory of Open Access Journals (Sweden)

    Hyun-Dong Park

    2009-05-01

    Full Text Available Tremor is defined as a rhythmical, involuntary oscillatory movement of a body part. Although neurological examination reveals information regarding its frequency, regularity, amplitude, and activation conditions, the electrophysiological investigations help in confirming the tremor, in differentiating it from other hyperkinetic disorders like myoclonus, and may provide etiological clues. Accelerometer with surface electromyogram (EMG can be used to document the dominant frequency of a tremor, which may be useful as certain frequencies are more characteristic of specific etiologies than others hyperkinetic disorders. It may show rhythmic bursts, duration and activation pattern (alternating or synchronous. Myoclonus is a quick, involuntary movement. Electrophysiological studies may helpful in the evaluation of myoclonus, not only for confirming the clinical diagnosis but also for understanding the underlying physiological mechanisms. Electroencephalogram (EEG-EMG correlates can give us important information about myoclonus. Jerk-locked back-averaging and evoked potentials with recording of the long-latency, long-loop reflexes are currently available to study the pathophysiology of myoclonus.

  14. Treatment of Myoclonus-Dystonia Syndrome with Tetrabenazine

    Science.gov (United States)

    Luciano, Angelo Y.; Jinnah, H. A.; Pfeiffer, Ronald F.; Truong, Daniel D.; Nance, Martha A.; LeDoux, Mark S.

    2014-01-01

    Background Many cases of myoclonus-dystonia (M-D) are due to mutations in SGCE (DYT11). For the majority of patients, myoclonus is relatively more severe than dystonia and can lead to significant functional disability. Deep brain stimulation has been chosen as a treatment option in some patients given that M-D often responds poorly to oral pharmacotherapy. Methods Two siblings with M-D due to the same SGCE deletion mutation were evaluated with the Global Dystonia Rating Scale (GDRS), Fahn-Marsden Rating Scale (FM) and Unified Myoclonus Rating Scale (UMRS) on and off tetrabenazine. Results Both subjects showed marked improvement in myoclonus and mild-to-moderate improvement in dystonia with tetrabenazine. In addition, the response to tetrabenazine has been sustained for years. Conclusions A therapeutic trial of tetrabenazine should be considered in patients with M-D, especially before consideration of deep brain stimulation. An adequately powered multi-center, double-blind study of tetrabenazine will be required to determine the relative contributions of tetrabenazine therapy to myoclonus, dystonia, quality of life, and activities of daily living in patients with M-D. PMID:25406829

  15. Spinal myoclonus associated with vitamin B12 deficiency.

    Science.gov (United States)

    Dogan, Ebru Apaydin; Yuruten, Betigul

    2007-11-01

    We report a 85-year-old female patient with involuntary and regular movements restricted to abdominal muscles, resembling belly dance, with additional clinical features; ataxia, impaired cognition, neuropathy and glossitis. We initially excluded the possible cortical and spinal structural abnormalities with magnetic resonance imagings and performed routine blood analysis which revealed that serum vitamin B12 (vB12) level was under normal ranges. The relation of low serum vB12 level and myoclonus is speculative and very few studies have demonstrated such patients. In this case report, serum vB12 deficiency is discussed in the context of its probable role in the generation of spinal myoclonus.

  16. Segmental myoclonus and basilar artery giant aneurysm case report

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    J. Pitágoras de Mattos

    1992-12-01

    Full Text Available A 70 years-old man was admitted at our hospital because of unstable angina pectoris. He had essential hypertension and right hemiplegia from a ischemic stroke two years before admission. On neurologic examination, it was found mental disorientation, unstable emotionality, right spastic hemiparesis with right Babinski sign, and segmental myoclonus affecting the superior lip and the palate (palatal nystagmus on the right side. On the CT scan, a giant aneurysm of the basilar artery was detected. We conclude that the segmental myoclonus could be explained by ischemic lesions in the Guillain - Mollaret triangle.

  17. Myoclonus during prolonged treatment with sertraline in an adolescent patient.

    Science.gov (United States)

    Ghaziuddin, N; Iqbal, A; Khetarpal, S

    2001-01-01

    A 15-year-old female adolescent with depression developed myoclonus after uninterrupted treatment with sertraline over 6 years. She was also receiving methylphenidate. Withdrawal of sertraline and continuation of methylphenidate did not result in any improvement. Treatment with valproic acid resulted in improvement of the movement disorder. This report suggests that myoclonus may be a side effect of sertraline in some adolescents. Further, we hypothesized that extended treatment over several years, young age, and a compromised central nervous system due to underlying disorders may be risk factors for the development of this side effect.

  18. Top of the basilar artery embolic stroke and neonatal myoclonus

    NARCIS (Netherlands)

    Govaert, Paul; Dudink, Jeroen; Visser, Gerhard; Breukhoven, Petra; Vanhatalo, Sampsa; Lequin, Maarten

    2009-01-01

    Cerebellar stroke has been virtually unreported in the living newborn infant. A term newborn male weighing 3380g at birth suffered myoclonic seizures within 24 hours of birth by spontaneous vaginal delivery. Apgar scores were 3 and 4 at 1 and 5 minutes. Myoclonus persisted for 9 days, responding poo

  19. Normal cortical excitability in Myoclonus-Dystonia - A TMS study

    NARCIS (Netherlands)

    van der Salm, S. M. A.; van Rootselaar, A. F.; Foncke, E. M. J.; Koelman, J. H. T. M.; Bour, L. J.; Bhatia, K. P.; Rothwell, J. C.; Tijssen, M. A. J.

    2009-01-01

    Objective: The aim of the present study is to investigate cortical excitability in patients with DYT 11 positive Myoclonus-Dystonia (M-D), using transcranial magnetic stimulation (TMS). Methods: Silent period, motor evoked potential (MEP) recruitment curve short interval intracortical, inhibition (S

  20. Propriospinal myoclonus : clinical reappraisal and review of literature

    NARCIS (Netherlands)

    van der Salm, Sandra M A; Erro, Roberto; Cordivari, Carla; Edwards, Mark J; Koelman, Johannes H T M; van den Ende, Tom; Bhatia, Kailash P; van Rootselaar, Anne-Fleur; Brown, Peter; Tijssen, Marina A J

    2014-01-01

    OBJECTIVE: Propriospinal myoclonus (PSM) is a rare disorder with repetitive, usually flexor arrhythmic brief jerks of the trunk, hips, and knees in a fixed pattern. It has a presumed generation in the spinal cord and diagnosis depends on characteristic features at polymyography. Recently, a historic

  1. Effect of pretreatment with midazolam on etomidate-induced myoclonus: A meta-analysis.

    Science.gov (United States)

    Zhou, Chengmao; Zhu, Yu; Liu, Zhen; Ruan, Lin

    2017-04-01

    Objective To investigate the effect of pretreatment with midazolam on myoclonus induced by etomidate injection. Methods A meta-analysis was performed using Review Manager software, version 5.2. Two researchers independently searched PubMed, Cochrane Library, and Embase® databases for randomized controlled trials involving patients who underwent etomidate induced general anaesthesia with or without midazolam pretreatment, published between 1990 and 2016. Outcome measures comprised overall myoclonus incidence rate and incidence rate classified by degree of myoclonus following etomidate injection. Data were assessed using a fixed effects model. Results Five studies, comprising 302 patients, were included for analysis. Overall incidence rate of etomidate injection-induced myoclonus was significantly lower in the pooled midazolam group versus controls (relative risk [RR] 0.34, 95% confidence interval [CI] 0.26, 0.44); Results subgrouped by degree of myoclonus showed significantly lower incidence in midazolam groups versus control groups for mild myoclonus (RR 0.56, 95% CI 0.39, 0.80); moderate myoclonus (RR 0.20, 95% CI 0.10, 0.41); and severe myoclonus (RR 0.12, 95% CI 0.04, 0.39). Conclusion Midazolam can effectively prevent etomidate-induced myoclonus, and alleviate the degree of etomidate-induced myoclonus.

  2. MYOCLONUS IN CHILDREN: DEFINITIONS AND CLASSIFICATIONS, DIFFERENTIAL DIAGNOSIS, APPROACHES TO THERAPY (A LECTURE

    Directory of Open Access Journals (Sweden)

    M. Yu. Bobylova

    2014-01-01

    Full Text Available Myoclonus is a manifestation of many neurological diseases, by differing in etiology and pathogenesis. The high prevalence of myoclonus in children with cardinally different prognoses of diseases of not only the nervous system, but also other organs and systems causes to resume investigations into myoclonus as a syndrome, to specify its terminology and classification, to improve diagnostic criteria, and to optimize additional diagnostic schemes.

  3. Effect of dexmedetomidine in preventing etomidate-induced myoclonus: a meta-analysis

    Science.gov (United States)

    Du, Xueke; Zhou, Chengmao; Pan, Linghui; Li, Changlong

    2017-01-01

    Objective To investigate the effect of dexmedetomidine in the prevention of etomidate-induced myoclonus. Methods We searched for randomized controlled trials (RCTs) regarding the use of dexmedetomidine in preventing etomidate-induced myoclonus in the databases PubMed, EMBASE, the Cochrane Library, and CNKI. We extracted data and assessed the quality of the literature and adopted RevMan 5.2 to conduct meta-analysis on each effective index and employed funnel plot to test publication bias. Results The results showed that the incidence of etomidate-induced myoclonus in the dexmedetomidine treated groups was significantly lower than that of the control groups (risk ratio [RR]=0.27, 95% confidence interval [CI] [0.15, 0.47], P<0.00001). With regard to the severity of etomidate-induced myoclonus, incidences of etomidate-induced myoclonus in the dexmedetomidine treated groups resulting in mild myoclonus (RR=0.37, 95% CI [0.19, 0.75], P=0.006), moderate myoclonus (RR=0.21, 95% CI [0.12, 0.37], P<0.00001), or severe myoclonus (RR=0.18, 95% CI [0.08, 0.38], P<0.00001) were significantly lower than those of the control groups. No statistically significant difference was found (RR=0.70, 95% CI [0.47, 1.04], P=0.08) between etomidate-induced myoclonus in the dexmedetomidine treated groups and that of the midazolam treated groups. Conclusion Dexmedetomidine can effectively prevent the incidence of etomidate-induced myoclonus and reduce the severity of etomidate-induced myoclonus. In addition, there were no significant differences between the effects of dexmedetomidine and midazolam in preventing etomidate-induced myoclonus. PMID:28223779

  4. Epilepsy kills

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    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.

  5. Spinal segmental myoclonus as an unusual presentation of multiple sclerosis

    OpenAIRE

    Alroughani, Raed Abdullah; Ahmed, Samar Farouk; Khan, Riyadh Ahmed; Al-Hashel, Jasem Yousef

    2015-01-01

    Background Unusual presentations of multiple sclerosis (MS) at onset may post a diagnostic dilemma to the treating neurologists. Spinal myoclonus is rare in MS and may lead to perform extensive investigations to rule out other etiologies affecting the spinal cord. Case presentation We described a 31-year-old male who presented with involuntary brief jerky movements of the left shoulder and arm with significant wasting of shoulder muscles. In retrospect, the patient had a progressive right leg...

  6. Essential Segmental Myoclonus Responding Well To Fluoxetine A case Report

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    Bhattacharyya K B

    1999-01-01

    Full Text Available We report a case of essential segmental myoclonus a 10 year old girl who presented with continuing movement of both the shoulder girdle muscles for 6 months. The movements were exacerbated with the hands raised above the head or in the outstretched posture and were persisting during sleep. There was no abnormal palatal movement. Additionally there was a rhythmical clicking sound arising from the shoulders that could be felt and ausculated with the stethoscope. CT scan of brain and MRI of cervical spine were non-contributory, EMG showed muscle activates at about 50 per second in the shoulder girdle muscles. Cine-radiography of shoulder joints showed the head of humerus hitting against the spine of the scapula rhythmically. Spinal tap was non-contributory. The diagnosis or essential segmental myoclonus was entertained and the subject with fluoxetine, a selective serotonin reuptake inhibitor with remarkable response. The possible mechanism of action of agents modulating the serotonergic system in the brain for the management of myoclonus has been reviewed and their role suggested.

  7. Treatment of Palatal Myoclonus with Botulinum Toxin Injection

    Directory of Open Access Journals (Sweden)

    Mursalin M. Anis

    2013-01-01

    Full Text Available Palatal myoclonus is a rare cause of pulsatile tinnitus in patients presenting to the otolaryngology office. Rhythmic involuntary contractions of the palatal muscles produce the pulsatile tinnitus in these patients. Treatment of this benign but distressing condition with anxiolytics, anticonvulsants, and surgery has been largely unsuccessful. A few investigators have obtained promising results with botulinum toxin injection into the palatal muscles. We present a patient with palatal myoclonus who failed conservative treatment with anxiolytics. Unilateral injection of botulinum toxin into her tensor veli palatini muscle under electromyographic guidance resolved pulsatile tinnitus in her ipsilateral ear and unmasked pulsatile tinnitus in the contralateral ear. A novel method of following transient postinjection symptoms using a diary is presented in this study. Botulinum toxin dose must be titrated to achieve optimal results in each individual patient, analogous to titrations done for spasmodic dysphonia. Knowledge of the temporal onset of postinjection side effects and symptomatic relief may aid physicians in dose titration and surveillance. We present suggestions on titrating the botulinum toxin dose to optimal levels. A review of the literature on the use of botulinum toxin for palatal myoclonus and some common complications are discussed.

  8. Cortico-muscular coupling in a patient with postural myoclonus.

    Science.gov (United States)

    Kristeva, Rumyana; Popa, Traian; Chakarov, Vihren; Hummel, Sibylla

    2004-08-19

    We investigated the cortico-muscular coherence in a patient with posturally induced cortically originating negative myoclonus. We recorded simultaneously 50 channels EEG and EMG from quadriceps and biceps femoris muscles of the left upper leg. Three experimental conditions were investigated with the patient in a seated position: (i) recording during rest (Rest), (ii) recording while the patient had to hold his left leg horizontally stretched out (Postural), and (iii) recording while the patient had to hold his left leg horizontally stretched out against a vertical force (Postural against force). Coherence, phase difference and cumulant density were computed as indicators for cortico-muscular coupling. The cortical component preceding the silent period was shown by averaging and was reconstructed. During postural and postural against force conditions, the EEG over the vertex was significantly coherent with EMG, in alpha (7-15 Hz) and beta range (15-30 Hz). The strongest coherence peak was at 21 Hz. No high-frequency coherence was observed. The phase difference and the cumulant density estimate corresponded to a 32 ms time lag between motor cortex and muscles, with EEG leading. The broadening of the coherence spectrum at which the motor cortex drives the muscles together with the excessive coherence levels and the giant SEP could reflect the hyperexcitability of the sensorimotor cortex. The frequency content of the coherence may be characteristic for this type of myoclonus. The results lend support to the view that the frequency analysis may have some diagnostic potential in cortical myoclonus.

  9. Response of spinal myoclonus to a combination therapy of autogenic training and biofeedback

    Directory of Open Access Journals (Sweden)

    Kempuraj Duraisamy

    2007-10-01

    Full Text Available Abstract Introduction Clinical evidence indicates that certain types of movement disorders are due to psychosomatic factors. Patients with myoclonic movements are usually treated by a variety of therapeutic agents. Autogenic training (AT, a recognized form of psychosomatic therapies, is suitable for certain types of neurological diseases. We describe a patient with myoclonus who failed to respond to conventional medical therapy. His symptoms were exaggerated by psychogenic factors, especially anger. Case presentation A 42-year-old man was admitted to our hospital, Preventive Welfare Clinic, for severe paroxysmal axial myoclonus of the left shoulder and abdominal muscles. The initial diagnosis was "combination of spinal segmental myoclonus and propriospinal myoclonus". The myoclonic movements did not occur during sleep but were aggravated by bathing, alcohol drinking, and anger. Psychological examination indicated hostile attribution. Although considered not to be a case of psychogenic myoclonus, a "psychogenic factor" was definitely involved in the induction of the organic myoclonus. The final diagnosis was "combination of spinal segmental myoclonus and propriospinal myoclonus accompanied by features of psychosomatic disorders". The patient underwent psychosomatic therapy including AT and surface electromyography (EMG-biofeedback therapy and treatment with clonazepam and carbamazepine. Results AT and EMG-biofeedback resulted in shortening the duration and reducing the amplitude and frequency of the myoclonic discharges. Conclusion Psychosomatic therapy with AT and surface EMG-biofeedback produced excellent improvement of myoclonic movements and allowed the reduction of the dosage of conventional medications.

  10. Central neuraxial anaesthesia presenting with spinal myoclonus in the perioperative period: a case series

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    Bamgbade Olumuyiwa A

    2009-06-01

    Full Text Available Abstract Introduction Perioperative spinal myoclonus is extremely rare. Many anaesthetists and perioperative practitioners may not diagnose or manage this complication appropriately when it occurs. This case report of unusual acute spinal myoclonus following regional anaesthesia highlights certain aspects of this rare complication that have not previously been published. Case presentations A series of four consecutive patients who developed acute lower-limb myoclonus following spinal or epidural anaesthesia are described. The case series occurred at three different hospitals and involved four anaesthetists over a 3-year period. Two Caucasian men, aged 90-years-old and 67-years-old, manifested unilateral myoclonus. Two Caucasian women, aged 64-years-old and 53-years-old, developed bilateral myoclonus. Myoclonus was self-limiting in one patient, treated with further regional anaesthesia in one patient and treated with intravenous midazolam in two patients. The overall outcome was good in all patients, with no recurrence or sequelae in any of the patients. Conclusion This case series emphasizes that spinal myoclonus following regional anaesthesia is rare, has diverse pathophysiology and can have diverse presentations. The treatment of perioperative spinal myoclonus should be directed at the aetiology. Anaesthetists and perioperative practitioners who are unfamiliar with this rare complication should be reassured that it may be treated successfully with midazolam.

  11. Ramsay Hunt Syndrome : Clinical Characterization of Progressive Myoclonus Ataxia Caused by GOSR2 Mutation

    NARCIS (Netherlands)

    van Egmond, Martje E.; Verschuuren - Bemelmans, Cornelia; Nibbeling, Esther A.; Elting, Jan Willem J.; Sival, Deborah A.; Brouwer, Oebele F.; de Vries, Jeroen J.; Kremer, Hubertus P.; Sinke, Richard J.; Tijssen, Marina A.; de Koning, Tom J.

    2014-01-01

    BACKGROUND: Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-on

  12. EATING EPILEPSY

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    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. Myoclonus in Creutzfeldt-Jakob disease: polygraphic and video-electroencephalography assessment of 109 patients.

    Science.gov (United States)

    Binelli, Simona; Agazzi, Pamela; Canafoglia, Laura; Scaioli, Vidmer; Panzica, Ferruccio; Visani, Elisa; Di Fede, Giuseppe; Giaccone, Giorgio; Bizzi, Alberto; Bugiani, Orso; Avanzini, Guiliano; Tagliavini, Fabrizio; Franceschetti, Silvana

    2010-12-15

    We used electroencephalography (EEG)-polygraphic recordings to classify myoclonus in 109 patients with Creutzfeldt-Jakob disease (CJD) on the basis of its electromyography (EMG) pattern, time course, distribution, and EEG correlates. We recorded myoclonic jerks in 55 patients (50.4%), and we classified them as periodic myoclonus in 28, rhythmic in 13, and irregular in 20 (6 patients showed two types of myoclonus). Myoclonus occurred as a prominently negative event (interrupting the EMG discharge) in 10. Periodic sharp-wave complexes (PSWCs) were present in all but one patient with myoclonic jerks but were time-locked with EMG-bursts only in case of periodic myoclonus. Jerk-locked back averaging revealed a variable EEG-EMG transfer-time commonly exceeding that characterizing cortical myoclonus. Myoclonus was frequently associated with Met/Met polymorphism at codon 129 of the prion protein gene, but it was also observed in association with Met/Val or Val/Val polymorphisms provided that the EEG showed the presence of the PSWC pattern. The presence of enlarged somatosensory evoked potentials significantly correlated with the myoclonic presentation, as did MR signal hyperintensity involving the cortical mantle. Our observations on the basis of standard polygraphic criteria suggest that CJD associates with a remarkable variety of myoclonic jerks, and therefore different brain structures are probably involved as generators. The significant association between the presence of all myoclonus types with PSWCs suggests that hyperexcitable corticosubcortical loops are always required to generate (or allow) both myoclonus and the EEG complexes, either they are time locked or not.

  14. PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease.

    Directory of Open Access Journals (Sweden)

    Julie Turnbull

    2011-04-01

    Full Text Available Lafora disease is the most common teenage-onset neurodegenerative disease, the main teenage-onset form of progressive myoclonus epilepsy (PME, and one of the severest epilepsies. Pathologically, a starch-like compound, polyglucosan, accumulates in neuronal cell bodies and overtakes neuronal small processes, mainly dendrites. Polyglucosan formation is catalyzed by glycogen synthase, which is activated through dephosphorylation by glycogen-associated protein phosphatase-1 (PP1. Here we remove PTG, one of the proteins that target PP1 to glycogen, from mice with Lafora disease. This results in near-complete disappearance of polyglucosans and in resolution of neurodegeneration and myoclonic epilepsy. This work discloses an entryway to treating this fatal epilepsy and potentially other glycogen storage diseases.

  15. 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

  16. 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...

  17. 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 ...

  18. 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 ...

  19. 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.

  20. Startle Response in Progressive Myoclonic Epilepsy.

    Science.gov (United States)

    Kızıltan, Meral E; Gündüz, Ayşegül; Coşkun, Tülin; Delil, Şakir; Pazarcı, Nevin; Özkara, Çiğdem; Yeni, Naz

    2017-03-01

    Cortical reflex myoclonus is a typical feature of progressive myoclonic epilepsy (PME) in which it is accompanied by other types of mostly drug-resistant seizures and progressive neurological signs. Although PME is characterized by cortical hyperexcitability, studies have demonstrated atrophy and degenerative changes in the brainstem in various types of PME. Thus, we have questioned whether any stimuli may trigger a hyperactive response of brainstem reticular formation in PME and investigated the startle reflex in individuals with PME. We recorded the auditory startle response (ASR) and the startle response to somatosensory inputs (SSS) in patients with PME, and compared the results with healthy volunteers and patients with other types of drug-resistant epilepsy. All patients were using antiepileptic drugs (AEDs), 12 were on multiple AEDs. The probability of ASR was significantly lower and mean onset latency was longer in patients with PME compared with other groups. SSS responses over all muscles were low in both the PME and drug-resistant epilepsy groups; however, the differences were not statistically significant. The presence of a response over the biceps brachii muscle was zero in the PME group and showed a borderline difference compared with the other groups. Decreased probability and prolonged latencies of ASR in PME indicate inhibition of reflex circuit. A trend for decreased responses of SSS suggests hypoactive SSS in both PME and other epilepsy groups. Hypoactive ASR in PME and hypoactive SSS in both PME and other epilepsies may be attributed to the degeneration of pontine reticular nuclei in PME and functional inhibition by AEDs in both disorders.

  1. [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.

  2. Myoclonus in renal failure: Two cases of gabapentin toxicity

    Directory of Open Access Journals (Sweden)

    Kenneth R. Kaufman

    2014-01-01

    Full Text Available Gabapentin, an AED approved for the adjunctive treatment of partial seizures with/without secondary generalization and for the treatment of postherpetic neuralgia, is frequently used off-label for the treatment of both psychiatric and pain disorders. Since gabapentin is cleared solely by renal excretion, dosing requires consideration of the patient's renal function. Myoclonic activity may occur as a complication of gabapentin toxicity, especially with acute kidney injury or end-stage renal disease. We report 2 cases of myoclonic activity associated with gabapentin toxicity in the setting of renal disease which resolved with discontinuation of gabapentin and treatment with hemodialysis and peritoneal dialysis. As gabapentin has multiple indications and off-label uses, an understanding of myoclonus, neurotoxicity, and renal dosing is important to clinicians in multiple specialties.

  3. Efficacy of lacosamide on seizures and myoclonus in a patient with epilepsia partialis continua.

    Science.gov (United States)

    Spalletti, Maddalena; Comanducci, Angela; Vagaggini, Alessandro; Bucciardini, Luca; Grippo, Antonello; Amantini, Aldo

    2013-06-01

    A 39-year-old male with epilepsia partialis continua, refractory to first- and second-line antiepileptic drugs, is described. Lacosamide produced a progressive antiepileptic effect on Jacksonian motor seizures and subsequently on positive myoclonus, which developed into negative myoclonus before complete resolution. Our report confirms the efficacy of lacosamide on focal motor refractory status epilepticus and documents a unique effect of lacosamide on seizure semiology.

  4. A patient with reflex myoclonus and muscle rigidity: "jerking stiff-man syndrome".

    OpenAIRE

    Leigh, P N; J. C. Rothwell; Traub, M.; Marsden, C. D.

    1980-01-01

    A patient with progressive muscular rigidity associated with reflex myoclonus is described. The muscular rigidity was predominantly axial, and the myoclonic jerks affected axial and leg muscles. Jerks occurred either spontaneously, or in response to touch to the perioral region, or to stretch of head and neck muscles. Physiological investigations suggested that the myoclonus originated in the medulla and was mediated by fast-conducting pathways upwards through the brainstem and down the spina...

  5. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

    DEFF Research Database (Denmark)

    Muona, M.; Berkovic, S. F.; Dibbens, L. M.

    2015-01-01

    determinants of high-frequency neuronal firing. Functional analysis of the Arg320His mutant channel showed a dominant-negative loss-of-function effect. Ten cases had pathogenic mutations in known PME-associated genes (NEU1, NHLRC1, AFG3L2, EPM2A, CLN6 and SERPINI1). Identification of mutations in PRNP, SACS...

  6. Report of progressive myoclonus ataxia (PMA) in two Chinese pedigrees.

    Science.gov (United States)

    Sun, Lichao; Wu, Jianguo; Liu, Chunlan; Lin, Weihong

    2016-10-01

    To describe the clinical characteristics of patients diagnosed with progressive myoclonus ataxia (PMA) from two Chinese pedigrees. An analysis of clinical data is presented and inferences drawn. The propositus from pedigree-I (9-year-old female) could not walk stably and had a history of frequent falls. The symptoms aggravated over time until she lost the ability to take care of herself. Her physical and mental development (including cognitive ability) was normal. She had an ataxic gait, ataxic dysarthria, bilateral horizontal nystagmus and visible limb myoclonus. She failed the bilateral finger-to-nose and heel-knee-tibia tests and could not walk in a straight line. Babinski signs were not observed. EEG tracing during sleep showed low-amplitude spikes and spike-and-slow waves in the bilateral frontal and mid-frontal areas. Her magnetic resonance imaging scan was normal. In pedigree-II, the propositus (a 54-year-old male) could not walk stably and had a history of occasional falls for the past 34 years. The symptoms aggravated gradually until he lost the ability to perform routine daily activities. There was no history of convulsions. His physical and mental faculties, as well as the neurological findings were similar to those of the pedigree-I. Both proposituses did not respond well to symptomatic treatment. A novel mutation has been identified in SGCE gene (NM_003919:exon3:c.360delT:p.A120fs) using exome sequencing. PMA patients from the two pedigrees had autosomal dominant mode of inheritance, with variability in the age of onset and disease severity. The cardinal symptoms were myoclonic seizures and ataxia without mental retardation.

  7. The development of glossopharyngeal breathing and palatal myoclonus in a 29 year old after scuba diving

    Directory of Open Access Journals (Sweden)

    Thomas AR

    2011-02-01

    Full Text Available Palatal myoclonus is a rare movement disorder characterized by brief, rhythmic involuntary movements of the soft palate. Palatal myoclonus is further subdivided into “essential palatal tremor” (EPT and “symptomatic palatal tremor” (SPT. EPT is characterized by involvement of the tensor veli palatini, myoclonus that might persist during sleep, as well as ear clicks, usually the patient’s presenting complaint. The MRI and neurological exam are normal in EPT. SPT is characterized by involvement of the levator veli palatini and myoclonus which consistently perseveres during sleep. The MRI shows olivary hypertrophy and clinical features may include ataxia, dysarthria and nystagmus, depending on the size of the lesion1. Glossopharyngeal breathing is a technique used by deep-sea divers to increase lung vital capacity, which is also useful in patients with ventilator dependence from poliomyelitis and Duchenne muscular dystrophy. To date there have been no reported cases of palatal myoclonus and glossopharyngeal breathing occurring simultaneously. We present the case of a 29 year-old female with palatal myoclonus and glossopharyngeal breathing after scuba-diving.

  8. Effect of Increased Immunosuppression on Developmental Outcome of Opsoclonus Myoclonus Syndrome (OMS).

    Science.gov (United States)

    Mitchell, Wendy G; Wooten, Amelia A; O'Neil, Sharon H; Rodriguez, Jenny G; Cruz, Rosa E; Wittern, Rachael

    2015-07-01

    Opsoclonus myoclonus syndrome (OMS) produces long-term cognitive, behavioral, and motor deficits. Objective was to see if more aggressive treatment improved outcome. Assessment included opsoclonus myoclonus syndrome rating, developmental/cognitive and motor assessment, and adaptive behavior. Fourteen subjects completed testing. Nine had neuroblastoma. Onset was at 10 to 35 months; onset to diagnosis: 2 days to 14 months, and onset to first treatment: 5 days to 15 months. Initial treatment was corticotropin (12), oral steroids (3), plus intravenous immunoglobulin in all. Ten received rituximab, 5 cyclophosphamide. Age at testing ranged from 2.5 to 10.3 years. Adaptive Behavior Score (11 subjects), mean 93.5; estimated Intelligence Quotient/Developmental Quotient mean 93.5; Motor: mean 92.8. Residual opsoclonus myoclonus syndrome symptoms at the time of the evaluation were generally minor; opsoclonus myoclonus syndrome scores ranged from 0 to 6. Comparison to previously reported opsoclonus myoclonus syndrome subjects showed improved outcomes: Adaptive behavior, cognitive and motor scores were significantly higher (P < .001) in new subjects. Outcomes have improved with more aggressive immunosuppression, with most opsoclonus myoclonus syndrome survivors now functioning at or near normal.

  9. Effect of different dose of lidocaine on etomidate-induced myoclonus during general anesthesia induction

    Institute of Scientific and Technical Information of China (English)

    Xiao-Li Yang

    2016-01-01

    Objective:To study the effect of different dose of lidocaine on etomidate-induced myoclonus during general anesthesia induction. Methods:A total of 105 cases who received surgery under general anesthesia were selected for study and randomly divided into A, B and C group who received intravenous injection of 20 mg, 40 mg and 0 mg lidocaine during anesthesia induction respectively, then number of cases and degree of myoclonus were compared among three groups, and hemodynamic indexes, inflammation indexes and stress indexes during induction process were evaluated. Results:The number of cases of myoclonus 0 grade of A group and B group was significantly more than that of C group, the number of cases of myoclonus 1 grade, 2 grade and 3 grade was significantly less than that of C group, and the number of cases of myoclonus 0 grade, 1 grade, 2 grade and 3 grade of A group was not sinificantly different from that of B group. There was no difference in HR and MBP at T1-T4 points in time within A group, HR and MBP at T2-T4 points in time within B group were significantly lower than those at T1 point in time, and HR and MBP at T2-T4 points in time within C group were significantly higher than those at T1 point in time. During anesthesia induction, serum hs-CRP, HMGB-1, NE and E contents all showed increasing trend, and the increasing trend of hs-CRP, HMGB-1, NE and E contents of A group and B group was weaker than that of C group. Conclusions:Both 20 mg and 40 mg lidocaine can effectively reduce the incidence of etomidate-induced myoclonus and also alleviate inflammatory and stress response during anesthesia induction;20 mg lidocaine has less influence on hemodynamics and is a more ideal dose for prevention of etomidate-induced myoclonus.

  10. Paraneoplastic epilepsy.

    Science.gov (United States)

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

    2016-08-01

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

  11. The Benefit of Neuromuscular Blockade in Patients with Postanoxic Myoclonus Otherwise Obscuring Continuous Electroencephalography (CEEG)

    Science.gov (United States)

    Hornik, Alejandro; Guerch, Meziane; Veripuram, Anantha; Yerram, Sushma; Ardelt, Agnieszka

    2017-01-01

    Introduction. Myoclonus status epilepticus is independently associated with poor outcome in coma patients after cardiac arrest. Determining if myoclonus is of cortical origin on continuous electroencephalography (CEEG) can be difficult secondary to the muscle artifact obscuring the underlying CEEG. The use of a neuromuscular blocker can be useful in these cases. Methods. Retrospective review of CEEG in patients with postanoxic myoclonus who received cisatracurium while being monitored. Results. Twelve patients (mean age: 53.3 years; 58.3% male) met inclusion criteria of clinical postanoxic myoclonus. The initial CEEG patterns immediately prior to neuromuscular blockade showed myoclonic artifact with continuous slowing (50%), burst suppression with myoclonic artifact (41.7%), and continuous myogenic artifact obscuring CEEG (8.3%). After intravenous administration of cisatracurium (0.1 mg–2 mg), reduction in artifact improved quality of CEEG recordings in 9/12 (75%), revealing previously unrecognized patterns: continuous EEG seizures (33.3%), lateralizing slowing (16.7%), burst suppression (16.7%), generalized periodic discharges (8.3%), and, in the patient who had an initially uninterpretable CEEG from myogenic artifact, continuous slowing. Conclusion. Short-acting neuromuscular blockade is useful in determining background cerebral activity on CEEG otherwise partially or completely obscured by muscle artifact in patients with postanoxic myoclonus. Fully understanding background cerebral activity is important in prognostication and treatment, particularly when there are underlying EEG seizures. PMID:28265468

  12. The Benefit of Neuromuscular Blockade in Patients with Postanoxic Myoclonus Otherwise Obscuring Continuous Electroencephalography (CEEG

    Directory of Open Access Journals (Sweden)

    Christopher R. Newey

    2017-01-01

    Full Text Available Introduction. Myoclonus status epilepticus is independently associated with poor outcome in coma patients after cardiac arrest. Determining if myoclonus is of cortical origin on continuous electroencephalography (CEEG can be difficult secondary to the muscle artifact obscuring the underlying CEEG. The use of a neuromuscular blocker can be useful in these cases. Methods. Retrospective review of CEEG in patients with postanoxic myoclonus who received cisatracurium while being monitored. Results. Twelve patients (mean age: 53.3 years; 58.3% male met inclusion criteria of clinical postanoxic myoclonus. The initial CEEG patterns immediately prior to neuromuscular blockade showed myoclonic artifact with continuous slowing (50%, burst suppression with myoclonic artifact (41.7%, and continuous myogenic artifact obscuring CEEG (8.3%. After intravenous administration of cisatracurium (0.1 mg–2 mg, reduction in artifact improved quality of CEEG recordings in 9/12 (75%, revealing previously unrecognized patterns: continuous EEG seizures (33.3%, lateralizing slowing (16.7%, burst suppression (16.7%, generalized periodic discharges (8.3%, and, in the patient who had an initially uninterpretable CEEG from myogenic artifact, continuous slowing. Conclusion. Short-acting neuromuscular blockade is useful in determining background cerebral activity on CEEG otherwise partially or completely obscured by muscle artifact in patients with postanoxic myoclonus. Fully understanding background cerebral activity is important in prognostication and treatment, particularly when there are underlying EEG seizures.

  13. 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 ...

  14. 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].

  15. Sensory Processing Difficulties in Opsoclonus-Myoclonus Syndrome: A Pilot Project of Presentation and Possible Prevalence.

    Science.gov (United States)

    Green, Dido; Lim, Ming; Lang, Bethan; Pohl, Keith; Turk, Jeremy

    2016-07-01

    Opsoclonus-myoclonus syndrome is a rare but serious neurological condition resulting in loss of control of eye movements, often accompanied by difficulties in posture and movement control with reports of sensory sensitivities potentially impacting on behavior. This pilot study characterizes the presence of atypical sensory behaviors in opsoclonus-myoclonus syndrome through questionnaire survey of a cohort of families. The Short Sensory Profile, Vineland Adaptive Behavior Scale, and Developmental Behaviour Checklist were distributed to 30 families; 16 were returned anonymously. Atypical sensory behaviors were identified in a large proportion (62.5%). Children reported as being more anxious showed greater sensitivity to auditory stimuli, U(14) 11, P = .026. This is consistent with recent recognition of more extensive disease neurocognitive effects in Opsoclonus-myoclonus syndrome. Further research is needed to increase understanding of the complex pathology of this disease and to provide indicators for sensory and behavioral as well as pharmacological interventions. © The Author(s) 2016.

  16. Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation.

    Science.gov (United States)

    Maréchal, Lucie; Raux, Grégory; Dumanchin, Cécile; Lefebvre, Guillaume; Deslandre, Emmanuelle; Girard, Carole; Campion, Dominique; Parain, Dominique; Frebourg, Thierry; Hannequin, Didier

    2003-05-15

    Myoclonus-dystonia syndrome (MDS) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions, associated with psychiatric manifestations. MDS is usually considered as a benign disease. In most of the families, MDS is linked to chromosome 7q21 and mutations within epsilon-sarcoglycan (SGCE) gene have been recently described. We report a MDS family with a severe and heterogeneous phenotype, including myoclonus with important functional impact and several psychiatric features, characterized by obsessive-compulsive disorder, depression, and anxiety. This phenotype was shown to be associated with a novel truncating mutation located within exon 4 of SGCE.

  17. An analysis of epileptic negative myoclonus by magnetoencephalography.

    Science.gov (United States)

    Yoshimura, Masaki; Zhang, Shouwen; Ueda, Yuki; Matsuda, Kazumi; Imai, Katsumi; Takahashi, Yukitoshi; Inoue, Yushi

    2015-02-01

    To clarify the neurophysiologic mechanism of epileptic negative myoclonus (ENM), we analyzed the magnetoencephalography (MEG) of a patient with ENM. The 52-year-old right-handed male had frequent ENM in the right upper limb during awake and monthly seizures with sudden tonic stiffening of the right forearm during sleep. MRI demonstrated a focal cortical dysplasia in the cortex of the posterior portion of the left superior frontal sulcus. Whole-head type MEG, electroencephalography and electromyography were simultaneously recorded during ENM. Single equivalent currents dipoles (ECDs) were calculated for each spike component followed by silent period (SP) in the right deltoid muscle. These MEG spike components were averaged with respect to their peaks, and single ECD was also calculated for the averaged spike component. Furthermore, we analyzed the MEG with the silent-period-locked-averaging (SPLA) method. Twenty MEG signal data were averaged with respect to the onset of SP. Twenty epochs in each of five separate periods of recording were repeatedly averaged. ECDs were calculated for spike components observed in each averaged epoch. ECDs of each spike followed by SP were clustered near the cortex of the left central sulcus. In MEG spike averaging and SPLA method, ECDs at the peak of spike components were located near the right shoulder division of the primary sensorimotor cortex reproducibly. ECDs on the ascending phase before the peak were located lateral to the above ECD location in MEG spike averaging method. ENM was produced by an inhibitory action on the primary sensorimotor cortex corresponding to the body segment in which ENM occurs. Copyright © 2014 Elsevier B.V. All rights reserved.

  18. 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...

  19. Severity of dystonia is correlated with putaminal gray matter changes in Myoclonus-Dystonia

    NARCIS (Netherlands)

    Beukers, R. J.; van der Meer, J. N.; van der Salm, S. M.; Foncke, E. M.; Veltman, D. J.; Tijssen, M. A. J.

    Background: Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder characterized by myoclonic jerks and dystonic postures or movements. Morphometric studies have been performed in other, mainly heterogenous, types of dystonia producing conflicting results. However, all these

  20. Is development of hyperalgesia, allodynia and myoclonus related to morphine metabolism during long-term administration?

    DEFF Research Database (Denmark)

    Sjøgren, P; Thunedborg, L P; Christrup, Lona Louring

    1998-01-01

    Recently, clinical reports have suggested a relationship between the occurrence of hyperalgesia, allodynia and/or myoclonus and treatment with high doses of morphine in humans. Although few clinical descriptions of these phenomena are available, experimental work supports the notion that high doses...... of morphine may play a pathogenetic role in the observed behavioural syndrome....

  1. Management of patients with myoclonus : available therapies and the need for an evidence-based approach

    NARCIS (Netherlands)

    Dijk, Joke M.; Tijssen, Marina A. J.

    2010-01-01

    Myoclonus is a hyperkinetic movement disorder characterised by quick and involuntary jerks. Therapy should focus on cure of an underlying disorder; however, symptomatic treatment is often needed when treatment of an underlying cause is impossible or ineffective. The appropriate treatment for a speci

  2. Opsoclonus myoclonus ataxia syndrome due to falciparum malaria in two Indian children

    Directory of Open Access Journals (Sweden)

    Kallol Bose

    2016-01-01

    Full Text Available Opsoclonus-myoclonus ataxia (OMA syndrome is rare in children, mostly caused by neuroblastoma. Here, we present two very rare cases presenting with OMA due to falciparum malaria. Both of them responded to a high dose of adrenocorticotrophin hormone and intravenous immunoglobulin without recurrence and complication.

  3. Opsoclonus myoclonus ataxia syndrome due to falciparum malaria in two Indian children.

    Science.gov (United States)

    Bose, Kallol; Saha, Sudip; Islam, Md Rahiul; Chakraborty, Chayan; Laskar, Mustakim

    2016-11-01

    Opsoclonus-myoclonus ataxia (OMA) syndrome is rare in children, mostly caused by neuroblastoma. Here, we present two very rare cases presenting with OMA due to falciparum malaria. Both of them responded to a high dose of adrenocorticotrophin hormone and intravenous immunoglobulin without recurrence and complication.

  4. Reflex epilepsy induced by playing oriental card or board games.

    Science.gov (United States)

    Lee, Sang Ahm; Choi, Eun Jung; Kang, Joong Koo

    2006-12-01

    There are currently few studies on clinical profiles of reflex epilepsy induced by thinking and spatial tasks. We studied the clinical characteristics of reflex epilepsy induced by playing oriental card and board games. This study included 17 patients who presented with seizures that occur predominantly while playing games. We collected clinical data via protocol-based interviews. EEGs and brain MRI were performed. All of the subjects were men, and all of them were older than 30 years at the onset of seizure. Thirteen patients (76%) experienced their seizures while playing the oriental card game "Go-stop" and the remaining four patients (24%) experienced them while playing the oriental board game "Baduk". Generalized tonic-clonic seizures were frequently preceded by prodromal symptoms, but myoclonus was not evident. Most patients had no spontaneous seizures and generalized epileptiform discharges on EEGs, and infrequent seizures that were well controlled. Our patients exhibited some features that differ from those described previously in the literature, suggesting that the clinical spectrum of reflex epilepsy induced by thinking and spatial tasks is wide.

  5. Video game epilepsy.

    Directory of Open Access Journals (Sweden)

    Singh R

    2001-10-01

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

  6. Belly dancer's myoclonus and chronic abdominal pain: pain-related dysinhibition of a spinal cord central pattern generator?

    Science.gov (United States)

    Tamburin, Stefano; Idone, Domenico; Zanette, Giampietro

    2007-07-01

    We report on a patient with segmental rhythmic myoclonus resembling belly dance. This patient developed the myoclonus in temporal and anatomical association with chronic abdominal pain. No structural or metabolic abnormalities were found. EMG recordings suggested the presence of a spinal cord central pattern generator (CPG). We hypothesize that pain-related spinal plasticity might have contributed to the hyperactivity of a spinal CPG, thus leading to the myoclonic jerks in our patient.

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

    Directory of Open Access Journals (Sweden)

    Roop Gursahani

    2008-01-01

    Full Text Available Although definititions of refractory epilepsy vary, about 40% of prevalent cases of epilepsy are not controlled by anti-epileptic drugs. A substantial proportion of this population requires palliative therapy since only a minority are candidates for epilepsy surgery. Drug therapy can be optimised after accurate classification of the epilepsy. Monotherapy is often as effective as polytherapy with fewer adverse effects. Depression and CNS adverse effects significantly impact quality of life and must be systematically screened for and treated. The ketogenic diet and vagal nerve stimulation provide substantial seizure control in a significant number of cases and may be used synergistically. Deep brain stimulation is another promising modality.

  8. Surgery for childhood epilepsy

    Directory of Open Access Journals (Sweden)

    Sita Jayalakshmi

    2014-01-01

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

  9. 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.

  10. 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.

  11. 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

  12. Palatal-Myoclonus as a Presentation of Hashimoto Encephalopathy: an Interesting case Report

    Directory of Open Access Journals (Sweden)

    Esmaeel Ghoreishi

    2013-09-01

    Full Text Available Objective: Hashimoto encephalopathy (HE is known as a steroid-responsive encephalopathy associated with autoimmune thyroiditis or nonvascular inflammation-related autoimmune meningoencephalitis. The average age of onset of HE is approximately 50 years; and it is more common in women. The onset of HE may be acute or subacute. The course of most HE cases is relapsing and remitting, which is similar to that of vasculitis and stroke.Methods: In this article, we present a previously healthy 32 years old; veterinarian male with palatal myoclonus, as a rare presentation of this disorder, and review the neurologic aspects of hashimoto encephalitis . Results:The clinical presentation of HE is characterized by progressive cognitive decline tremor, transient aphasia, seizures, abnormal gait, sleep disorder and stroke-like episodes .Myoclonus, either generalized or multifocal, and tremor, often of the bilateral upper extremities, is the most frequently observed involuntary movements in HE.Conclusion:The rapidly progressive cognitive dysfunction and encephalopathies observed.

  13. Lamotrigine in the treatment of nocturnal myoclonus syndrome (NMS): two case reports.

    Science.gov (United States)

    Staedt, J; Stoppe, G; Riemann, H; Hajak, G; Rüther, E; Riederer, P

    1996-01-01

    In previous investigations we found an increase of D2 dopamine receptors in the striatum of patients with nocturnal myoclonus syndrome (NMS) after treatment with dopamimetics. Under the hypothesis, that, according to animal experiments, the glutamatergic system could be involved in this atypical dopaminergic up-regulation in NMS. The glutamate release inhibitor lamotrigine was tested in up to now two NMS patients. The results and the success of this approach and its implications are discussed.

  14. Axial jerks: a clinical spectrum ranging from propriospinal to psychogenic myoclonus

    OpenAIRE

    van der Salm, S.M.A.; Koelman, J.H.T.M.; Henneke, S.; van Rootselaar, A. F.; Tijssen, M.A.J.

    2010-01-01

    Propriospinal myoclonus (PSM) is a rare disorder with repetitive flexor, arrhythmic jerks of the trunk, hips and knees. Its generation is presumed to relay in the spinal cord. We report a case series of 35 consecutive patients with jerks of the trunk referred as possible PSM to a tertiary referral center for movement disorders. We review classical PSM features as well as psychogenic and tic characteristics. In our case series, secondary PSM was diagnosed in one patient only. 34 patients showe...

  15. Changes in spinal cord excitability in a patient with rhythmic segmental myoclonus.

    OpenAIRE

    Di Lazzaro, V; Restuccia, D; Nardone, R; Oliviero, A; P. Profice; Insola, A.; TONALI, P.; J. C. Rothwell

    1996-01-01

    Paired stimulation of the common peroneal and posterior tibial nerve was used to study the recovery cycle of lumbosacral somatosensory evoked potentials in 10 control subjects and in one patient with rhythmic segmental myoclonus of the leg involving the L2-L4 myotomes. In normal subjects the peripheral nerve volley in the cauda equina had recovered at an interstimulus interval of 3 ms whereas the postsynaptic dorsal horn potential was reduced to about 60% of its control size. Similar results ...

  16. Objective tinnitus from palatal myoclonus. Use of botulinum toxin: a case report.

    Science.gov (United States)

    Conill Tobías, Noemi; de Paula Vernetta, Carlos; García Callejo, Francisco Javier; Marco Algarra, Jaime

    2012-01-01

    Objective tinnitus can have many different etiologies, palatal myoclonus being one of the less frequent. This type of tinnitus is generated by involuntary rhythmic contraction of the soft palate, which generates an audible click for the patient and for the explorer. Botulinum toxin achieves temporary muscle paralysis through presynaptic inhibition of the acetylcholine level at the neuromuscular union. We present a patient with long-term objective tinnitus, along with this patient's response to botulinum toxin injection.

  17. 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.

  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. 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...

  20. A case of primary spinal myoclonus: clinical presentation and possible mechanisms involved Um caso de mioclonia espinhal primária: apresentação clínica e possíveis mecanismos envolvidos

    OpenAIRE

    Cynthia Resende Campos; João Carlos Papaterra Limongi; Flávia Costa Nunes Machado; Mário Wilson Iervolino Brotto

    2003-01-01

    Spinal myoclonus is a rare movement disorder characterized by myoclonic involvement of a group of muscles supplied by a few contiguous segments of the spinal cord. Structural lesions are usually the cause, but in primary spinal myoclonus the etiology remains unknown. We present the case of a 26-year-old woman with cervical spinal myoclonus in which both clinical and electromyographic findings pointed to the segment C1-C3 as the origin of the myoclonus. Laboratorial examinations were normal an...

  1. [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.

  2. 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 ...

  3. 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...

  4. 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.

  5. 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....

  6. 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 ...

  7. 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.

  8. 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.

  9. 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....

  10. 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.

  11. 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.)

  12. A case of Dravet syndrome with cortical myoclonus indicated by jerk-locked back-averaging of electroencephalogram data.

    Science.gov (United States)

    Kobayashi, Yoshinori; Hanaoka, Yoshiyuki; Akiayma, Tomoyuki; Ohmori, Iori; Ouchida, Mamoru; Yamamoto, Toshiyuki; Oka, Makio; Yoshinaga, Harumi; Kobayashi, Katsuhiro

    2017-01-01

    We report a female patient with Dravet syndrome (DS) with erratic segmental myoclonus, the origin of which was first identified in the cerebral cortex by the detection of myoclonus-associated cortical discharges. The discharges were disclosed through jerk-locked back-averaging of electroencephalogram (EEG) data using the muscle activity of myoclonus as triggers. The detected spikes on the contralateral parieto-central region preceded myoclonic muscle activity in the forearms by 28-46ms. The patient was six months old at the time of examination, and was developing normally before seizure onset at two months of age. She suffered from recurrent afebrile or febrile generalized tonic-clonic seizures that often developed into status epilepticus. Interictal EEG and brain magnetic resonance imaging (MRI) showed no significant findings. The amplitudes of the somatosensory-evoked potentials were not extremely large. She has a chromosomal microdeletion involving SCN1A and adjacent genes.

  13. Familial cortical myoclonic tremor and epilepsy: Description of a new South African pedigree with 30 year follow up.

    Science.gov (United States)

    van Coller, Riaan; van Rootselaar, Anne-Fleur; Schutte, Clara; van der Meyden, C H

    2017-05-01

    The aims of this study were to report the index case of a South African family with cortical myoclonic tremor and epilepsy, to describe the pedigree with the clinical findings and results of additional investigations, and to report the unique follow-up evaluation of affected and unaffected family members after 30 years. The index case led to evaluation of the clinical files of patients from 1978/1979 and clinical assessment and investigation of patients from this cohort as well as newly identified family members. Patients were examined clinically; cortical myoclonic tremor severity was scored by using the Fahn-Tolosa- Marin-Tremor Rating Scale and the Myoclonus Rating Scale. Cortical origin of myoclonus was proven. Statistical analyses were done to assess the impact of cortical myoclonic tremor on quality of life. Clinical data was available for 23 patients. Increase in cortical myoclonic tremor and age showed a statistically significant correlation with worsening of the sub-score for Quality of Life (FTMTRS) and myoclonus rating scale. After 30 years eleven of fourteen patients could be followed up. Progression of cortical myoclonic tremor severity was noted but epilepsy control was adequate with all patients reporting less than two seizures per year. No clinical features of neurodegeneration were found. We describe the initial presentation and 30 year follow-up of a four generation South African family with FCMTE. The unique long term follow up of this pedigree supports previous findings that the condition does not cause additional progressive neurological deterioration and quality of life is mostly influenced by worsening of the cortical myoclonic tremor with age. Copyright © 2017 Elsevier Ltd. All rights reserved.

  14. 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...

  15. Early deep brain stimulation in patients with myoclonus-dystonia syndrome.

    Science.gov (United States)

    Rocha, Helena; Linhares, Paulo; Chamadoira, Clara; Rosas, Maria José; Vaz, Rui

    2016-05-01

    Myoclonus-dystonia (MD) is a rare movement disorder which is disabling and frequently refractory to medical treatment. Deep brain stimulation (DBS) of the globus pallidus interna (GPi) has been used to treat some patients. Although there is significant motor improvement with DBS, the impact on disability and on quality of life has been infrequently reported. Also, the benefit of the procedure is not established in patients without ε-sarcoglycan gene (SGCE) mutations. We present two patients with severe MD treated with GPi-DBS, one of the patients without a SGCE mutation. Motor improvements (rest/action/total subscores of the Unified Myoclonus Rating Scale and movement subscore of the Burke-Fahn-Marsden Dystonia Rating Scale [BFMRS]) and disability (BFMRS disability subscore) were carefully evaluated preoperatively and at 6 and 12months after surgery. Quality of life (addressed using the Portuguese version of the Medical Outcomes Study 36-item Short-Form General Health Survey, version 2.0 [SF-36v2]) was tested preoperatively and 12months after DBS. At 12-month follow-up, myoclonus improved 78.6% in Patient 1 and 80.7% in Patient 2, while dystonia improved 37% and 86.7%, respectively. Improvements in disability ranged from 71.4% to 75%. With regard to quality of life, all parameters addressed by the SF-36v2 improved or stabilized in both patients. No major adverse effects were noticed. Improvements in motor symptoms are consistent with reports in the literature and were obtained regardless of the identification of a SGCE gene mutation. There were also significant benefits on disability and quality of life. DBS should be considered for MD.

  16. [Whole-body magnetic resonance imaging in a patient with an occult abdominal neuroblastoma and opsoclonus-myoclonus syndrome].

    Science.gov (United States)

    Miras Azcón, F; Culiañez Casas, M; Pastor Pons, E

    2014-01-01

    Opsoclonus-myoclonus syndrome is a rare neurological disorder. In children, the etiology varies, although it is a paraneoplastic manifestation (mainly of neuroblastoma) in 40% to 80% of cases. Whole-body MRI promises to be a powerful tool in the search for a possible primary tumor in this condition for which the diagnostic algorithm is yet to be established. We present the case of a two-year-old boy with signs of opsoclonus-myoclonus syndrome in whom a retroperitoneal neuroblastoma was detected by whole-body MRI. Copyright © 2012 SERAM. Published by Elsevier Espana. All rights reserved.

  17. No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations1

    DEFF Research Database (Denmark)

    Hjermind, L.E.; Vissing, J.; Asmus, F.;

    2008-01-01

    Mutations in the epsilon-sarcoglycan gene (SGCE) can cause autosomal dominant inherited myoclonus-dystonia (M-D). Defects in other sarcoglycans; alpha-, beta-, gamma-, and delta can cause autosomal recessive inherited limb girdle muscular dystrophies. epsilon- and alpha-sarcoglycans are very...... homologous and may substitute for one-another in different tissues. We therefore investigated whether mutations in SGCE also cause abnormalities of skeletal and myocardial muscle. Six patients with clinically and genetically verified M-D and no signs of limb-girdle muscular dystrophy were included. Skeletal...

  18. Opsoclonus-myoclonus and anti-Hu positive limbic encephalitis in a patient with neuroblastoma.

    Science.gov (United States)

    Morales La Madrid, Andres; Rubin, Charles M; Kohrman, Michael; Pytel, Peter; Cohn, Susan L

    2012-03-01

    Opsoclonus-myoclonus syndrome (OMS) is seen in 2-3% of children with neuroblastoma and is believed to be caused by an autoimmune process elicited by the tumor. Although long-term neurologic sequelae are common in children with OMS, limbic encephalitis has not previously been reported. We report a child who developed limbic encephalitis associated with anti-Hu antibodies, 6 years after her initial diagnosis of neuroblastoma and OMS. This case demonstrates that patients with neuroblastoma and OMS are at risk for developing new paraneoplastic symptoms years after their original diagnosis and emphasizes the need for careful long-term follow-up.

  19. Progressive Encephalomyelitis with Rigidity and Myoclonus in an Intellectually Disabled Patient Mimicking Neuroleptic Malignant Syndrome

    Directory of Open Access Journals (Sweden)

    Zheyu Xu

    2017-05-01

    Full Text Available We present a case of 32-year-old male with profound mental retardation and autism spectrum disorder who had presented with seizures, rigidity and elevated creatine kinase and was initially diagnosed as neuroleptic malignant syndrome (NMS. The patient subsequently had a complicated clinical course, developing refractory status epilepticus, which lead to the eventual diagnosis of progressive encephalomyelitis with rigidity and myoclonus (PERM. We discuss the clinical similarities and differences between NMS and PERM, and highlight the need to consider alternative diagnoses when the clinical picture of NMS is atypical, particularly in this patient group where the history and clinical examination may be challenging.

  20. Opsoclonus-myoclonus syndrome associated with non-small cell lung cancer.

    Science.gov (United States)

    Karasaki, Takahiro; Tanaka, Makoto

    2015-11-01

    A 68-year-old man developed progressive vertigo, saccadic eye movements, and tremors. Computed tomography showed multiple lung nodules. Surgery was performed and the pathological diagnosis was large cell neuroendocrine carcinoma in the left upper lobe with ipsilobar metastases, and adenocarcinoma in the left lower lobe. The neurological symptoms resolved dramatically after complete resection of the tumors. Opsoclonus-myoclonus syndrome associated with non-small-cell lung carcinoma is extremely rare. Surgery should not be delayed if a complete resection is expected.

  1. 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.

  2. 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...

  3. 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...

  4. 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.

  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. 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.

  8. 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.

  9. ADHD in idiopathic epilepsy.

    Science.gov (United States)

    Duran, Marcos H C; Guimarães, Catarina A; Montenegro, Maria Augusta; Neri, Marina L; Guerreiro, Marilisa M

    2014-01-01

    Our aim was to clarify the correlation of attention deficit hyperactivity disorder (ADHD) with epilepsy and behavior problems. This was a cross-sectional study. Sixty children with idiopathic epilepsy were interviewed using the MTA-SNAP IV Teacher and Parent Rating Scale, Vineland Adaptive Behavior Scales and Conners' Rating Scales. We used the chi-square test to analyze the correlation of epilepsy variables in patients with and without ADHD with a significance level of 0.05. Eight patients had ADHD symptoms (13%), seven had the inattentive ADHD subtype and only three had behavioral problems. When epileptic patients with and without ADHD symptoms were compared we found no significant difference in regard to epilepsy variables. All patients were controlled and 43% were either without AED or undergoing withdrawal. Our study revealed a low comorbidity of ADHD symptoms and epilepsy due to low interference of seizures and drug treatment on the comorbid condition.

  10. ADHD in idiopathic epilepsy

    Directory of Open Access Journals (Sweden)

    Marcos H. C. Duran

    2014-01-01

    Full Text Available Our aim was to clarify the correlation of attention deficit hyperactivity disorder (ADHD with epilepsy and behavior problems. This was a cross-sectional study. Sixty children with idiopathic epilepsy were interviewed using the MTA-SNAP IV Teacher and Parent Rating Scale, Vineland Adaptive Behavior Scales and Conners’ Rating Scales. We used the chi-square test to analyze the correlation of epilepsy variables in patients with and without ADHD with a significance level of 0.05. Eight patients had ADHD symptoms (13%, seven had the inattentive ADHD subtype and only three had behavioral problems. When epileptic patients with and without ADHD symptoms were compared we found no significant difference in regard to epilepsy variables. All patients were controlled and 43% were either without AED or undergoing withdrawal. Our study revealed a low comorbidity of ADHD symptoms and epilepsy due to low interference of seizures and drug treatment on the comorbid condition.

  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. 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.

  15. 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.

  16. 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.

  17. Regional cerebral glucose metabolic changes in oculopalatal myoclonus: implication for neural pathways, underlying the disorder

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Sang Soo; Moon, So Young; Kim, Ji Soo; Kim, Sang Eun [College of Medicine, Seoul National University, Seoul (Korea, Republic of)

    2004-07-01

    Palatal myoclonus (PM) is characterized by rhythmic involuntary jerky movements of the soft palate of the throat. When associated with eye movements, it is called oculopalatal myoclonus (OPM). Ordinary PM is characterized by hypertrophic olivary degeneration, a trans-synaptic degeneration following loss of neuronal input to the inferior olivary nucleus due to an interruption of the Guillain-Mollaret triangle usually by a hemorrhage. However, the neural pathways underlying the disorder are uncertain. In an attempt to understand the pathologic neural pathways, we examined the metabolic correlates of this tremulous condition. Brain FDG PET scans were acquired in 8 patients with OPM (age, 49.9{+-}4.6 y: all males: 7 with pontine hemorrhage, 1 with diffuse brainstem infarction) and age-matched 50 healthy males (age, 50.7{+-} 9.0) and the regional glucose metabolism compared using SPM99. For group analysis, the hemispheres containing lesions were assigned to the right side of the brain. Patients with OPM had significant hypometabolism in the ipsilateral (to the lesion) brainstem and superior temporal and parahippocampal gyri (P < 0.05 corrected, k = 100). By contrast, there was significant hypermetabolism in the contralateral middle and inferior temporal gyri, thalamus, middle frontal gyrus and precuneus (P < 0.05 corrected, k=l00). Our data demonstrate the distinct metabolic changes between several ipsilateral and contralateral brain regions (hypometabolism vs. hypermetabolism) in patients with OPM. This may provide clues for understanding the neural pathways underlying the disorder.

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. [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.

  3. 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.

  4. 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.

  5. 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). ...

  6. Juvenile Myoclonic Epilepsy in Rural Western India: Not Yet a Benign Syndrome

    Science.gov (United States)

    Desai, Devangi; Jani, Trilok

    2016-01-01

    Purpose. To study prevalence of uncontrolled seizures in patients with juvenile myoclonic epilepsy [JME] and assess factors responsible for it. Methods. An ambispective study of all patients with JME attending our epilepsy clinic was done. We recruited all patients with JME evaluated between 1 January 2009 and 31 December 2013 and followed them up to 31 December 2015. Results. Amongst 876 patients with epilepsy, JME was present in 73 patients. Amongst them, 53 [72.6%] had uncontrolled seizures prior to neurology consultation. Factors responsible for uncontrolled seizures included pitfalls in diagnosis like absence of prior neurology consultation missed history of myoclonus in prior consults and pitfalls in interpretation of EEG. Pitfalls in management were incorrect antiepileptic drug use, underdosing of AED, noncompliance with lifestyle, noncompliance with medicines, associated psychogenic nonepileptiform events, patients deliberately missing medicines for secondary gain, and concomitant alternative medicine use. 45 (84.9%) patients had “pseudorefractoriness.” True refractoriness [seizures despite 2 correctly dosed rational drugs] was seen in 8 (15.1%) patients only. Conclusion. Three-fourth of our patients had uncontrolled seizures initially, predominantly due to pitfalls in its diagnosis and management. Improving patient awareness and primary physician training for JME management is the need of the hour.

  7. 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.

  8. Memory functioning in children with epilepsy: frontal lobe epilepsy, childhood absence epilepsy, and benign epilepsy with centrotemporal spikes.

    Science.gov (United States)

    Lopes, Ana Filipa; Monteiro, José Paulo; Fonseca, Maria José; Robalo, Conceição; Simões, Mário Rodrigues

    2014-01-01

    Specific cognitive deficits have been identified in children with epilepsy irrespective of results on intelligence tests. Memory deficits are traditionally attributed to temporal lobe epilepsy, whereas the impact of frontal lobe epilepsy on memory functions has remained controversial. The aim of this study was the examination of memory abilities in other childhood common epilepsy syndromes (frontal lobe epilepsy (FLE), childhood absence epilepsy (CAE), and benign epilepsy with centrotemporal spikes (BECTS)) and the influence of epilepsy-related variables. Memory was examined in 90 children with epilepsy (each epilepsy group consisted of 30 children), aged 6-15, and compared with 30 control children. Children with FLE showed significant deficits in verbal and visual memory. In addition, type of epilepsy, earlier age at epilepsy onset, and longer active duration of epilepsy were associated with memory problems. Seizure frequency and treatment, however, did not influence memory performance. This study indicates that children with FLE show greater risk of developing memory deficits than children with CAE or BECTS, thus highlighting the importance of assessing also memory functions in frontal lobe epilepsy.

  9. Comorbidities of epilepsy

    National Research Council Canada - National Science Library

    H Srinivas; Urvashi Shah

    2017-01-01

    .... This article besides addressing these issues also explores the therapeutic management. A systematic search of PubMed from Jan 2006 to August 2016 was undertaken using the terms "comorbidities" and "epilepsy...

  10. Epilepsy - children - discharge

    Science.gov (United States)

    ... Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 593. Read More Brain aneurysm repair Brain surgery Epilepsy - overview Seizures Stereotactic radiosurgery - ...

  11. Personality characteristics and epilepsy

    DEFF Research Database (Denmark)

    Sørensen, A S; Hansen, H; Andersen, R

    1989-01-01

    Patients with a long history of temporal lobe epilepsy or primary generalized epilepsy entered a questionnaire study of personality characteristics, based on a modification of the Bear-Fedio inventory for temporal lobe behavioural syndrome. Psoriasis patients and healthy volunteers served...... as controls. Four clinical meaningful dimensions of included personality traits were identified: ixoide, ideational, obsessive-compulsive and affective features. Analyses based on the Rasch model approved of all dimensions except for affective features. The epilepsy group obtained the highest scores on all 3...... dimensions, healthy volunteers the lowest, while the psoriasis group repeatedly held an intermediate position in all sets of assessment (subjects, interviewers and relatives). A logistic regression analysis showed ixoide features being most important when the entire epilepsy group was compared with other...

  12. [Treatment of pediatric epilepsy].

    Science.gov (United States)

    Ito, Susumu; Oguni, Hirokazu

    2014-05-01

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

  13. Epilepsy and bipolar disorder.

    Science.gov (United States)

    Knott, Sarah; Forty, Liz; Craddock, Nick; Thomas, Rhys H

    2015-11-01

    It is well recognized that mood disorders and epilepsy commonly co-occur. Despite this, our knowledge regarding the relationship between epilepsy and bipolar disorder is limited. Several shared features between the two disorders, such as their episodic nature and potential to run a chronic course, and the efficacy of some antiepileptic medications in the prophylaxis of both disorders, are often cited as evidence of possible shared underlying pathophysiology. The present paper aims to review the bidirectional associations between epilepsy and bipolar disorder, with a focus on epidemiological links, evidence for shared etiology, and the impact of these disorders on both the individual and wider society. Better recognition and understanding of these two complex disorders, along with an integrated clinical approach, are crucial for improved evaluation and management of comorbid epilepsy and mood disorders.

  14. Temporal lobe epilepsy semiology.

    Science.gov (United States)

    Blair, Robert D G

    2012-01-01

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

  15. Employees with Epilepsy

    Science.gov (United States)

    ... alert systems to send message Other Accommodations Attendance/Absenteeism: Seizure activity can affect a person’s attendance at ... JAN suggested using a two‑way radio. A student with epilepsy used hedge-cutters and other landscaping ...

  16. Sex, epilepsy, and epigenetics

    OpenAIRE

    2014-01-01

    Epilepsy refers to a heterogeneous group of disorders that are associated with a wide range of pathogenic mechanisms, seizure manifestations, comorbidity profiles, and therapeutic responses. These characteristics are all influenced quite significantly by sex. As with other conditions exhibiting such patterns, sex differences in epilepsy are thought to arise—at the most fundamental level—from the “organizational” and “activational” effects of sex hormones as well as from the direct actions of ...

  17. Epigenetics and Epilepsy

    OpenAIRE

    2012-01-01

    Seizures can give rise to enduring changes that reflect alterations in gene expression patterns, intra and inter cellular signaling and ultimately network alterations that are a hallmark of epilepsy. A growing body of literature suggests that long-term changes in gene transcription associated with epilepsy are mediated via modulation of chromatin structure. One transcription factor in particular, REST (repressor element 1-silencing transcription factor), has received a lot of attention due to...

  18. 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.

  19. Epilepsy and homicide

    Science.gov (United States)

    Pandya, Neil S; Vrbancic, Mirna; Ladino, Lady Diana; Téllez-Zenteno, José F

    2013-01-01

    Purpose We report the rare case of a patient with intractable epilepsy and escalating aggression, resulting in murder, who had complete resolution of her seizures and explosive behavior following a right temporal lobectomy. Patients and methods We searched the available literature from 1880 to 2013 for cases of epilepsy being used as a court defense for murder and collected information regarding the final sentencing outcomes. We selected 15 papers with a total of 50 homicides. Results We describe the case of a 47-year-old woman with drug-resistant right temporal epilepsy who developed increasing emotional lability, outbursts of anger and escalating violent behavior culminating in a violent murder. The patient was imprisoned while awaiting trial. In the interim, she underwent a successful temporal lobectomy with full resolution of seizures, interictal rage and aggressive behaviors. After the surgery, her charges were downgraded and she was transferred to a psychiatric facility. Conclusion The aggressive behavior associated with epilepsy has been described in the literature for over a century. A link between epilepsy and aggression has been disproportionally emphasized. These patients share some common characteristics: they are usually young men with a long history of epilepsy and lower than average intelligence. The violent act is postictal, sudden-onset, more likely to occur after a cluster of seizures and is usually related with alcohol abuse. PMID:23700367

  20. Epilepsy and physical exercise.

    Science.gov (United States)

    Pimentel, José; Tojal, Raquel; Morgado, Joana

    2015-02-01

    Epilepsy is one of the commonest neurologic diseases and has always been associated with stigma. In the interest of safety, the activities of persons with epilepsy (PWE) are often restricted. In keeping with this, physical exercise has often been discouraged. The precise nature of a person's seizures (or whether seizures were provoked or unprovoked) may not have been considered. Although there has been a change in attitude over the last few decades, the exact role of exercise in inducing seizures or aggravating epilepsy still remains a matter of discussion among experts in the field. Based mainly on retrospective, but also on prospective, population and animal-based research, the hypothesis that physical exercise is prejudicial has been slowly replaced by the realization that physical exercise might actually be beneficial for PWE. The benefits are related to improvement of physical and mental health parameters and social integration and reduction in markers of stress, epileptiform activity and the number of seizures. Nowadays, the general consensus is that there should be no restrictions to the practice of physical exercise in people with controlled epilepsy, except for scuba diving, skydiving and other sports at heights. Whilst broader restrictions apply for patients with uncontrolled epilepsy, individual risk assessments taking into account the seizure types, frequency, patterns or triggers may allow PWE to enjoy a wide range of physical activities. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  1. Epigenetics and epilepsy.

    Science.gov (United States)

    Roopra, Avtar; Dingledine, Raymond; Hsieh, Jenny

    2012-12-01

    Seizures can give rise to enduring changes that reflect alterations in gene-expression patterns, intracellular and intercellular signaling, and ultimately network alterations that are a hallmark of epilepsy. A growing body of literature suggests that long-term changes in gene transcription associated with epilepsy are mediated via modulation of chromatin structure. One transcription factor in particular, repressor element 1-silencing transcription factor (REST), has received a lot of attention due to the possibility that it may control fundamental transcription patterns that drive circuit excitability, seizures, and epilepsy. REST represses a suite of genes in the nervous system by utilizing nuclear protein complexes that were originally identified as mediators of epigenetic inheritance. Epigenetics has traditionally referred to mechanisms that allow a heritable change in gene expression in the absence of DNA mutation. However a more contemporaneous definition acknowledges that many of the mechanisms used to perpetuate epigenetic traits in dividing cells are utilized by neurons to control activity-dependent gene expression. This review surveys what is currently understood about the role of epigenetic mechanisms in epilepsy. We discuss how REST controls gene expression to affect circuit excitability and neurogenesis in epilepsy. We also discuss how the repressor methyl-CpG-binding protein 2 (MeCP2) and activator cyclic AMP response element binding protein (CREB) regulate neuronal activity and are themselves controlled by activity. Finally we highlight possible future directions in the field of epigenetics and epilepsy.

  2. Coeliac disease and epilepsy.

    LENUS (Irish Health Repository)

    Cronin, C C

    2012-02-03

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

  3. Difficulties with neurological prognostication in a young woman with delayed-onset generalised status myoclonus after cardiac arrest due to acute severe asthma

    Directory of Open Access Journals (Sweden)

    Arvind Rajamani

    2011-01-01

    Full Text Available Neurological prognostication in cardiac arrest survivors is difficult, especially when the primary etiology is respiratory arrest. Prognostic factors designed to have zero false-positive rates to robustly confirm poor outcome are usually inadequate to rule out poor outcomes (i.e., high specificity and low sensitivity. One of the least understood prognosticators is generalised status myoclonus (GSM, with case reports confusing GSM, isolated myoclonic jerks and post-hypoxic intention myoclonus (Lance Adams syndrome [LAS]. With several prognostic indicators (including status myoclonus having been validated in the pre-hypothermia era, their current relevance is debatable. New modalities such as brain magnetic resonance imaging (MRI and continuous electroencephalography are being evaluated. We describe here a pregnant woman resuscitated from a cardiac arrest due to acute severe asthma, and an inability to reach a consensus based on published guidelines, with a brief overview of myoclonus, LAS and the role of MRI brain in assisting prognostication.

  4. A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

    Science.gov (United States)

    Mencacci, Niccolo E.; Rubio-Agusti, Ignacio; Zdebik, Anselm; Asmus, Friedrich; Ludtmann, Marthe H.R.; Ryten, Mina; Plagnol, Vincent; Hauser, Ann-Kathrin; Bandres-Ciga, Sara; Bettencourt, Conceição; Forabosco, Paola; Hughes, Deborah; Soutar, Marc M.P.; Peall, Kathryn; Morris, Huw R.; Trabzuni, Daniah; Tekman, Mehmet; Stanescu, Horia C.; Kleta, Robert; Carecchio, Miryam; Zorzi, Giovanna; Nardocci, Nardo; Garavaglia, Barbara; Lohmann, Ebba; Weissbach, Anne; Klein, Christine; Hardy, John; Pittman, Alan M.; Foltynie, Thomas; Abramov, Andrey Y.; Gasser, Thomas; Bhatia, Kailash P.; Wood, Nicholas W.

    2015-01-01

    Myoclonus-dystonia (M-D) is a rare movement disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. SGCE mutations represent a major cause for familial M-D being responsible for 30%–50% of cases. After excluding SGCE mutations, we identified through a combination of linkage analysis and whole-exome sequencing KCTD17 c.434 G>A p.(Arg145His) as the only segregating variant in a dominant British pedigree with seven subjects affected by M-D. A subsequent screening in a cohort of M-D cases without mutations in SGCE revealed the same KCTD17 variant in a German family. The clinical presentation of the KCTD17-mutated cases was distinct from the phenotype usually observed in M-D due to SGCE mutations. All cases initially presented with mild myoclonus affecting the upper limbs. Dystonia showed a progressive course, with increasing severity of symptoms and spreading from the cranio-cervical region to other sites. KCTD17 is abundantly expressed in all brain regions with the highest expression in the putamen. Weighted gene co-expression network analysis, based on mRNA expression profile of brain samples from neuropathologically healthy individuals, showed that KCTD17 is part of a putamen gene network, which is significantly enriched for dystonia genes. Functional annotation of the network showed an over-representation of genes involved in post-synaptic dopaminergic transmission. Functional studies in mutation bearing fibroblasts demonstrated abnormalities in endoplasmic reticulum-dependent calcium signaling. In conclusion, we demonstrate that the KCTD17 c.434 G>A p.(Arg145His) mutation causes autosomal dominant M-D. Further functional studies are warranted to further characterize the nature of KCTD17 contribution to the molecular pathogenesis of M-D. PMID:25983243

  5. Epilepsy in Adults with TSC

    Science.gov (United States)

    ... International TSC Research Conference Text Size Get Involved EPILEPSY IN ADULTS WITH TSC Download a PDF of ... age, including either new-onset seizures or ongoing epilepsy. Recent studies indicate that more than 80% of ...

  6. Epilepsy and homicide

    Directory of Open Access Journals (Sweden)

    Pandya NS

    2013-05-01

    Full Text Available Neil S Pandya,1 Mirna Vrbancic,2 Lady Diana Ladino,3,4 José F Téllez-Zenteno31Department of Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada; 2Department of Clinical Health Psychology, Royal University Hospital, Saskatoon, Saskatchewan, Canada; 3Division of Neurology, Department of Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada; 4Department of Neurology, College of Medicine, University of Antioquia, Medellin, ColombiaPurpose: We report the rare case of a patient with intractable epilepsy and escalating aggression, resulting in murder, who had complete resolution of her seizures and explosive behavior following a right temporal lobectomy.Patients and methods: We searched the available literature from 1880 to 2013 for cases of epilepsy being used as a court defense for murder and collected information regarding the final sentencing outcomes. We selected 15 papers with a total of 50 homicides.Results: We describe the case of a 47-year-old woman with drug-resistant right temporal epilepsy who developed increasing emotional lability, outbursts of anger and escalating violent behavior culminating in a violent murder. The patient was imprisoned while awaiting trial. In the interim, she underwent a successful temporal lobectomy with full resolution of seizures, interictal rage and aggressive behaviors. After the surgery, her charges were downgraded and she was transferred to a psychiatric facility.Conclusion: The aggressive behavior associated with epilepsy has been described in the literature for over a century. A link between epilepsy and aggression has been disproportionally emphasized. These patients share some common characteristics: they are usually young men with a long history of epilepsy and lower than average intelligence. The violent act is postictal, sudden-onset, more likely to occur after a cluster of seizures and is usually related with alcohol abuse.Keywords: aggression, crime, epilepsy

  7. National epilepsy movement in Brazil

    OpenAIRE

    P T Fernandes; Noronha, A. L. A.; Sander, J. W.; L. M. Li

    2007-01-01

    Purpose: To establish a social network of epilepsy lay organization in Brazil to provide advocacy for people with epilepsy and eventually forma powerful National Epilepsy movement. Method.-We actively searched for any associations, support groups or organizations related to epilepsy in the country by personal contacts, internet search and by telephone search. Contact was then established with any entity found. Results: The first meeting was held in Campinas in March 2003, and was attended by ...

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

    Science.gov (United States)

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

    2012-03-01

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

  9. APPROACH TO EPILEPSY IN CHILDHOOD

    African Journals Online (AJOL)

    Enrique

    their epilepsy (symptomatic), while the remainder were cryptogenic or ... access to medical resources and the continuing stigma around epilepsy.1-3 ... try and define the type of epilepsy as early as possible. .... Therapy is not always necessary and the natural history is for spontaneous .... and infantile spasms but has lost.

  10. Epilepsy in Dostoevsky.

    Science.gov (United States)

    Iniesta, Ivan

    2013-01-01

    Fyodor M. Dostoevsky (Moscow, 1821-Saint Petersburg, 1881) suffered epilepsy throughout his whole literary career. The aim here is to understand his condition in light of his novels, correspondence, and his contemporaries' accounts as well as through the eyes of later generations of neurologists. From Murin (The landlady, 1847) to Smerdyakov (The brothers Karamazov, 1880), Dostoevsky portrayed up to six characters with epilepsy in his literature. The first symptoms of the disease presented in early adulthood, but he was only diagnosed with epilepsy a decade later. In 1863 he went abroad seeking expert advice from the famous neurologists Romberg and Trousseau. Dostoevsky made an intelligent use of epilepsy in his literature (of his experiential auras or dreamy states particularly) and through it found a way to freedom from perpetual military servitude. His case offers an insight into the natural history of epilepsy (a cryptogenic localization related one of either fronto-medial or temporal lobe origin using contemporary medical terms), thus inspiring later generations of writers and neurologists. Furthermore, it illustrates the good use of an ordinary neurological disorder by an extraordinary writer who transformed adversity into opportunity. © 2013 Elsevier B.V. All rights reserved.

  11. Parietal lobe epilepsy.

    Science.gov (United States)

    Salanova, Vicenta

    2012-10-01

    Patients with parietal lobe epilepsy (PLE) exhibit an electroclinical epilepsy syndrome that is rarely seen even at large epilepsy centers. Clinically, most patients with PLE exhibit a somatosensory aura that may include painful dysesthesias, though vertigo, aphasia, disturbances of one's body image also occur, when ictal propagation occurs from the parietal lobe to the supplementary motor area, hypermotor manifestations are noted. When temporolimbic propagation occurs, complex visual or auditory hallucinations and automatisms may appear. Scalp electroencephalogram (EEG) is often nonlocalizing. Ictal EEG is rarely localizing in PLE, and invasive EEG is often required for definitive localization and functional mapping. Recent advances in clinical neurophysiology during the evaluation of patients with refractory partial epilepsy include Ictal magnetic source imaging (MSI). Combined EEG and functional magnetic resonance imaging (EEG-fMRI) may be useful for patients with PLE to refine the localization in patients undergoing a presurgical evaluation. High-frequency oscillations (HFOs) are more concentrated inside the seizure onset zone (SOZ), indicating that they may be used as interictal scalp EEG biomarker for the SOZ. When medical therapy fails, resective epilepsy surgery can result in seizure freedom or significant reduction especially when a lesion is present.

  12. The Epilepsy Foundation's 4th Biennial Epilepsy Pipeline Update Conference.

    Science.gov (United States)

    French, Jacqueline A; Schachter, Steven C; Sirven, Joseph; Porter, Roger

    2015-05-01

    On June 5 and 6, 2014, the Epilepsy Foundation held its 4th Biennial Epilepsy Pipeline Update Conference, an initiative of the Epilepsy Therapy Project, which showcased the most promising epilepsy innovations from health-care companies and academic laboratories dedicated to pioneering and advancing drugs, biologics, technologies, devices, and diagnostics for epilepsy. Speakers and attendees included emerging biotech and medical technology companies, major pharmaceutical and device companies, as well as investigators and innovators at the cutting-edge of epilepsy. The program included panel discussions on collaboration between small and large companies, how to get products in need of funding to the marketplace, who is currently funding epilepsy and CNS innovation, and how the NIH facilitates early-stage drug development. Finally, the conference featured the third annual "Shark Tank" competition. The presentations are summarized in this paper, which is followed by a compilation of the meeting poster abstracts. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. Neuroimaging of epilepsy

    Science.gov (United States)

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

    2017-01-01

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

  14. 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......, to a lesser extent, compared with the psoriasis group. Areas of ego functioning most affected were "reality testing", "cognitive functioning", "integrative functioning" and "regulation and control of drives". Patients with more than one type of seizure were the most affected, as were patients who were younger...... 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...

  15. Cannabinoids and Epilepsy.

    Science.gov (United States)

    Rosenberg, Evan C; Tsien, Richard W; Whalley, Benjamin J; Devinsky, Orrin

    2015-10-01

    Cannabis has been used for centuries to treat seizures. Recent anecdotal reports, accumulating animal model data, and mechanistic insights have raised interest in cannabis-based antiepileptic therapies. In this study, we review current understanding of the endocannabinoid system, characterize the pro- and anticonvulsive effects of cannabinoids [e.g., Δ9-tetrahydrocannabinol and cannabidiol (CBD)], and highlight scientific evidence from pre-clinical and clinical trials of cannabinoids in epilepsy. These studies suggest that CBD avoids the psychoactive effects of the endocannabinoid system to provide a well-tolerated, promising therapeutic for the treatment of seizures, while whole-plant cannabis can both contribute to and reduce seizures. Finally, we discuss results from a new multicenter, open-label study using CBD in a population with treatment-resistant epilepsy. In all, we seek to evaluate our current understanding of cannabinoids in epilepsy and guide future basic science and clinical studies.

  16. 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......, to a lesser extent, compared with the psoriasis group. Areas of ego functioning most affected were "reality testing", "cognitive functioning", "integrative functioning" and "regulation and control of drives". Patients with more than one type of seizure were the most affected, as were patients who were younger...... 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...

  17. Insular epilepsy surgery.

    Science.gov (United States)

    Laoprasert, Pramote; Ojemann, Jeffrey G; Handler, Michael H

    2017-04-01

    Since it was originally described nearly 70 years ago, insular epilepsy has been increasingly recognized and may explain failures after apparently well-planned operations. We review the history of awareness of the phenomenon, techniques for its assessment, and its surgical management. Insular epilepsy can mimic features of frontal, parietal, or temporal seizures. It should be considered when a combination of somatosensory, visceral, and motor symptoms is observed early in a seizure. Extraoperative intracranial recordings are required to accurately diagnose insular seizures. Stereo-electroencephalography (EEG) or craniotomy with implantation of surface and depth electrodes have been used successfully to identify insular onset of seizures. Surgical resection of an insular focus may be performed with good success and acceptable risk. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  18. 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

  19. Neuroimaging of epilepsy.

    Science.gov (United States)

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

    2016-01-01

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

  20. Progressive volume loss and white matter degeneration in cstb-deficient mice: a diffusion tensor and longitudinal volumetry MRI study.

    Directory of Open Access Journals (Sweden)

    Otto Manninen

    Full Text Available Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1, OMIM 254800 is an autosomal recessive disorder characterized by onset at the age of 6 to 16 years, incapacitating stimulus-sensitive myoclonus and tonic-clonic epileptic seizures. It is caused by mutations in the gene encoding cystatin B. Previously, widespread white matter changes and atrophy has been detected both in adult EPM1 patients and in 6-month-old cystatin B-deficient mice, a mouse model for the EPM1 disease. In order to elucidate the spatiotemporal dynamics of the brain atrophy and white matter changes in EPM1, we conducted longitudinal in vivo magnetic resonance imaging and ex vivo diffusion tensor imaging accompanied with tract-based spatial statistics analysis to compare volumetric changes and fractional anisotropy in the brains of 1 to 6 months of age cystatin B-deficient and control mice. The results reveal progressive but non-uniform volume loss of the cystatin B-deficient mouse brains, indicating that different neuronal populations possess distinct sensitivity to the damage caused by cystatin B deficiency. The diffusion tensor imaging data reveal early and progressive white matter alterations in cystatin B-deficient mice affecting all major tracts. The results also indicate that the white matter damage in the cystatin B-deficient brain is most likely secondary to glial activation and neurodegenerative events rather than a primary result of CSTB deficiency. The data also show that diffusion tensor imaging combined with TBSS analysis provides a feasible approach not only to follow white matter damage in neurodegenerative mouse models but also to detect fractional anisotropy changes related to normal white matter maturation and reorganisation.

  1. Adenosinergic signaling in epilepsy.

    Science.gov (United States)

    Boison, Detlev

    2016-05-01

    Despite the introduction of at least 20 new antiepileptic drugs (AEDs) into clinical practice over the past decades, about one third of all epilepsies remain refractory to conventional forms of treatment. In addition, currently used AEDs have been developed to suppress neuronal hyperexcitability, but not necessarily to address pathogenic mechanisms involved in epilepsy development or progression (epileptogenesis). For those reasons endogenous seizure control mechanisms of the brain may provide alternative therapeutic opportunities. Adenosine is a well characterized endogenous anticonvulsant and seizure terminator of the brain. Several lines of evidence suggest that endogenous adenosine-mediated seizure control mechanisms fail in chronic epilepsy, whereas therapeutic adenosine augmentation effectively prevents epileptic seizures, even those that are refractory to conventional AEDs. New findings demonstrate that dysregulation of adenosinergic mechanisms are intricately involved in the development of epilepsy and its comorbidities, whereas adenosine-associated epigenetic mechanisms may play a role in epileptogenesis. The first goal of this review is to discuss how maladaptive changes of adenosinergic mechanisms contribute to the expression of seizures (ictogenesis) and the development of epilepsy (epileptogenesis) by focusing on pharmacological (adenosine receptor dependent) and biochemical (adenosine receptor independent) mechanisms as well as on enzymatic and transport based mechanisms that control the availability (homeostasis) of adenosine. The second goal of this review is to highlight innovative adenosine-based opportunities for therapeutic intervention aimed at reconstructing normal adenosine function and signaling for improved seizure control in chronic epilepsy. New findings suggest that transient adenosine augmentation can have lasting epigenetic effects with disease modifying and antiepileptogenic outcome. This article is part of the Special Issue entitled

  2. Epilepsy in dental practice.

    Science.gov (United States)

    Fitzpatrick, J J; McArdle, N S; Wilson, M H; Stassen, L F A

    2008-01-01

    Epilepsy is a neurological condition characterised by seizure activity. It has an approximate incidence of 1%. General dental practitioners will encounter these patients in practice. This article discusses the types of epilepsy, the medical management and considerations in dental management of epileptic patients. General recommendations are made, based on current evidence, with respect to prescribing of medications. The management of an epileptic seizure is discussed. Status epilepticus is a rare but serious complication of epileptic seizures. An easy-to-follow algorithm is provided to assist the practitioner in managing seizures.

  3. Epilepsy, behavior, and art (Epilepsy, Brain, and Mind, part 1).

    Science.gov (United States)

    Rektor, Ivan; Schachter, Steven C; Arzy, Shahar; Baloyannis, Stavros J; Bazil, Carl; Brázdil, Milan; Engel, Jerome; Helmstaedter, Gerhard; Hesdorffer, Dale C; Jones-Gotman, Marilyn; Kesner, Ladislav; Komárek, Vladimír; Krämer, Günter; Leppik, Ilo E; Mann, Michael W; Mula, Marco; Risse, Gail L; Stoker, Guy W; Kasteleijn-Nolst Trenité, Dorothée G A; Trimble, Michael; Tyrliková, Ivana; Korczyn, Amos D

    2013-08-01

    Epilepsy is both a disease of the brain and the mind. Brain diseases, structural and/or functional, underlie the appearance of epilepsy, but the notion of epilepsy is larger and cannot be reduced exclusively to the brain. We can therefore look at epilepsy from two angles. The first perspective is intrinsic: the etiology and pathophysiology, problems of therapy, impact on the brain networks, and the "mind" aspects of brain functions - cognitive, emotional, and affective. The second perspective is extrinsic: the social interactions of the person with epilepsy, the influence of the surrounding environment, and the influences of epilepsy on society. All these aspects reaching far beyond the pure biological nature of epilepsy have been the topics of two International Congresses of Epilepsy, Brain, and Mind that were held in Prague, Czech Republic, in 2010 and 2012 (the third Congress will be held in Brno, Czech Republic on April 3-5, 2014; www.epilepsy-brain-mind2014.eu). Here, we present the first of two papers with extended summaries of selected presentations of the 2012 Congress that focused on epilepsy, behavior, and art.

  4. Palatal myoclonus: report of two cases Mioclonia palatal: relato de dois casos

    Directory of Open Access Journals (Sweden)

    GIORGIO FABIANI

    2000-09-01

    Full Text Available We describe two cases of palatal myoclonus (PM, one essential and another secondary to a stroke. Case 1: a 64 years old female who developed clicking sounds in both ears after a stroke and three years later on noticed a progressive involuntary movement of the throat associated with rhythmic contractions of the soft palate, muscles of tongue and throat. MRI showed an ischemic area in brainstem. The patient had a partial response to the use of sumatriptan 6 mg subcutaneously. Case 2: a 66 years old female who began with ear clicking at left ear that worsed slowly associated with tinnitus and arrhythmic movements of soft palate and an audible click at left ear. Brain MRI was normal; audiometry showed bilateral neurosensory loss. She was prescribed clonazepan 1 mg daily with complete recovery. Primary and secondary palatal myoclonus share the same clinical features but probably have different pathophysiological underlying mechanisms.Descrevemos dois casos de mioclonia palatal (MP, um essencial e o outro secundário a acidente vascular cerebral (AVC. Caso1: mulher de 64 anos que desenvolveu cliques audíveis em ambos os ouvidos após um AVC e que três anos depois começou a apresentar movimentos involuntários do pálato, músculos do língua e garganta. A ressonância magnética (RNM mostrou áreas de isquemia no tronco cerebral. A paciente apresentou resposta parcial e não duradoura ao uso subcutâneo de 6 mg de sumatriptano. Caso 2: mulher de 66 anos, com cliques audíveis no ouvido esquerdo que pioraram progressiva e lentamente associados com tinitus e movimentos mais ou menos rítmicos do pálato mole. A RNM encefálica era normal. A audiometria mostrou perda neurossensorial bilateral. Foi medicada com 1,0 mg de clonazepan diariamente com completa recuperação. MP primária e secundária compartilham das mesmas características clínicas, mas evidências sugerem que se devam a diferentes mecanismos fisiopatológicos.

  5. Epilepsy and brain tumors

    Science.gov (United States)

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

    2016-01-01

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

  6. Epilepsy after stroke

    DEFF Research Database (Denmark)

    Olsen, T S; Høgenhaven, H; Thage, O

    1987-01-01

    Development of epilepsy was studied prospectively in a group of 77 consecutive stroke patients. Included were stroke patients less than 75 years old admitted within the first 3 days after the stroke. Excluded were patients with subarachnoid hemorrhage, vertebrobasilar stroke, and patients...

  7. 20.5.Epilepsy

    Institute of Scientific and Technical Information of China (English)

    1992-01-01

    920184 Clinical analysis of 25 cases ofchronic alcoholic intoxication with epilepsy.PANG Zhixing (庞治兴),et al.Dept Psychol,1stTeaching Hosp.Norman Bethune Med Univ,130021 Chin J Nerv & Ment Dis 1991; 17 (5):289-291.The clinical manifestations of 25 cases (male)

  8. Vigabatrin in childhood epilepsy

    DEFF Research Database (Denmark)

    Uldall, P; Alving, J; Gram, L

    1995-01-01

    In an retrospective uncontrolled long-term study in 30 children with intractable epilepsy, it was found that treatment with vigabatrin resulted in a seizure reduction of more than 50% at 1-year follow-up in 40% of the children. The responders were all children with partial seizures. Side effects...

  9. Vigabatrin in childhood epilepsy

    DEFF Research Database (Denmark)

    Uldall, P; Alving, J; Gram, L;

    1995-01-01

    In an retrospective uncontrolled long-term study in 30 children with intractable epilepsy, it was found that treatment with vigabatrin resulted in a seizure reduction of more than 50% at 1-year follow-up in 40% of the children. The responders were all children with partial seizures. Side effects ...

  10. Hormones and absence epilepsy

    NARCIS (Netherlands)

    Luijtelaar, E.L.J.M. van; Tolmacheva, E.A.; Budziszewska, B.

    2017-01-01

    Hormones have an extremely large impact on seizures and epilepsy. Stress and stress hormones are known to reinforce seizure expression, and gonadal hormones affect the number of seizures and even the seizure type. Moreover, hormonal concentrations change drastically over an individual's lifetime, es

  11. Hormones and absence epilepsy

    NARCIS (Netherlands)

    Luijtelaar, E.L.J.M. van; Budziszewska, B.; Tolmacheva, E.A.

    2009-01-01

    Hormones have an extremely large impact on seizures and epilepsy. Stress and stress hormones are known to reinforce seizure expression, and gonadal hormones affect the number of seizures and even the seizure type. Moreover, hormonal concentrations change drastically over an individual's lifetime, es

  12. Mobile EEG in epilepsy

    NARCIS (Netherlands)

    Askamp, Jessica; Putten, van M.J.A.M.

    2014-01-01

    The sensitivity of routine EEG recordings for interictal epileptiform discharges in epilepsy is limited. In some patients, inpatient video-EEG may be performed to increase the likelihood of finding abnormalities. Although many agree that home EEG recordings may provide a cost-effective alternative t

  13. Mobile EEG in epilepsy

    NARCIS (Netherlands)

    Askamp, Jessica; van Putten, Michel Johannes Antonius Maria

    2014-01-01

    The sensitivity of routine EEG recordings for interictal epileptiform discharges in epilepsy is limited. In some patients, inpatient video-EEG may be performed to increase the likelihood of finding abnormalities. Although many agree that home EEG recordings may provide a cost-effective alternative

  14. Temporal Lobe Epilepsy Semiology

    Directory of Open Access Journals (Sweden)

    Robert D. G. Blair

    2012-01-01

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

  15. Epilepsy and Spinocerebellar Ataxia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-07-01

    Full Text Available A large consanguinous family from Saudi Arabia with 4 affected children presenting with an autosomal recessive ataxia, generalized tonic-clonic epilepsy and mental retardation is reported from the Institut de Genetique, Universite Louis Pasteur, Illkirch, France; Division of Pediatric Neurology, King Saud University, Riyadh, Saudi Arabia; and other centers.

  16. 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

  17. Sequential fluctuating paraneoplastic ocular flutter-opsoclonus-myoclonus syndrome and Lambert-Eaton myasthenic syndrome in small-cell lung cancer.

    LENUS (Irish Health Repository)

    Simister, Robert J

    2011-03-01

    Paraneoplastic cerebellar degeneration may occur in association with Lambert-Eaton myasthenic syndrome (LEMS), but to our knowledge, the co-occurrence of paraneoplastic opsoclonus-myoclonus syndrome and LEMS has not been previously reported. A 67-year-old woman presented with a complex partial seizure and evolving ocular flutter, opsoclonus, myoclonus and \\'cerebellar\\' signs, all of which improved spontaneously within 6 weeks. Approximately 8 weeks after symptom onset, the patient became encephalopathic, she had a further complex partial seizure, and she became areflexic with potentiation of deep tendon reflexes. Radiological, bronchoscopic and histological investigations revealed small-cell lung cancer, and neurophysiological investigations confirmed a diagnosis of LEMS. High-titre anti-P\\/Q-type voltage-gated calcium-channel antibodies were identified in the serum, which increased as the signs of opsoclonus and myoclonus resolved. The encephalopathy and clinical features of LEMS responded dramatically to chemotherapy and radiotherapy. Spontaneous improvement of paraneoplastic opsoclonus-myoclonus syndrome may occur, and this syndrome may occur in association with LEMS. Antivoltage-gated calcium-channel antibodies are not implicated in the pathogenesis of paraneoplastic opsoclonus-myoclonus syndrome.

  18. Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.

    Science.gov (United States)

    Sheridan, M B; Bytyci Telegrafi, A; Stinnett, V; Umeh, C C; Mari, Z; Dawson, T M; Bodurtha, J; Batista, D A S

    2013-10-01

    Myoclonus-dystonia (M-D) is a movement disorder that is often associated with mutations in epsilon-sarcoglycan (SGCE), a maternally imprinted gene at 7q21.3. We report a 24-year-old male with short stature (uniparental disomy. Parental SNP arrays confirmed that the proband had maternal uniparental disomy of chromosome 7 (mUPD7) with regions of heterodisomy and isodisomy. mUPD7 is the cause of approximately 5-10% of Silver-Russell syndrome (SRS), a disorder characterized by prenatal and postnatal growth retardation. Although SRS was not suspected in our patient, these findings explain his short stature. SGCE methylation testing showed loss of the unmethylated paternal allele. Our findings provide a unifying diagnosis for his short stature and M-D and help to optimize his medication regimen. In conclusion, we show that M-D is a clinical feature that may be associated with SRS due to mUPD7. Individuals with mUPD7 should be monitored for the development of movement disorders. Conversely, individuals with M-D and short stature should be evaluated for SRS.

  19. [Adult-onset opsoclonus-myoclonus-ataxia syndrome revealing rubella meningoencephalitis].

    Science.gov (United States)

    Nasri, A; Mansour, M; Messelmani, M; Riahi, A; Derbali, H; Bedoui, I; Zaouali, J; Mrissa, R

    2016-12-01

    Opsoclonus-myoclonus-ataxia (OMS) is a rare clinical syndrome, of paraneoplastic infectious, post-infectious, post-vaccinal or idiopathic origin. We report a 24-year-old young man who presented with gait disorder preceded by a febrile rash and retroauricular lymph nodes. Three days before admission, he had headache, vertigo, nausea and vomiting followed by gait unsteadiness and movement disorders of limbs and eyes. On examination, he had OMS syndrome. Brain MRI, total body scan, MIBG scintigraphy, tumor markers and onconeural antibodies were normal. Cerebro-spinal fluid (CSF) analysis showed lymphocytic meningitis. Positive serum and CSF immunoglobulin M antibody against rubella virus was demonstrated. He received acyclovir with full recovery within two weeks. We discuss the peculiarities of this association with a literature review. This observation enlarges the spectrum of neurological manifestations of rubella as well as that of OMS etiologies. Copyright © 2016 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  20. TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia

    Directory of Open Access Journals (Sweden)

    Joshua T. Geiger

    2017-08-01

    Full Text Available Background: Tubulin mutations are a cause of neuronal migrational disorders referred to as tubulinopathies. Mutations in tubulin genes can have a severe impact on microtubule function and result in heterogeneous clinical presentations. Current understanding of the clinical spectrum of tubulinopathies is predominantly based on research in fetal tissue and early-childhood cases. Methods: Testing of candidate genes followed by whole-exome sequencing was performed in an adult woman with a neurodevelopmental, hyperkinetic movement disorder, to identify the underlying genetic cause. Bioinformatic modeling and a systematic review of literature was conducted to investigate genotype-phenotype correlations. Results: The patient was found to carry a heterozygous, de novo c.722G>A, p.R241H mutation in a conserved domain of TUBB2B, encoding the β-isoform of tubulin. In silico analysis indicated that this mutation was pathogenic. On neuroimaging, the patient had asymmetric pachygyria and dysmorphic basal ganglia. Her neurological examination demonstrated mild cognitive impairment, myoclonus-dystonia, and skeletal anomalies. Conclusions: Here, we report the unique phenotype of an adult TUBB2B mutation carrier. This case illustrates a relatively mild phenotype compared to previously described fetal and early childhood cases. This highlights the importance of obtaining molecular genetic testing in individuals with a high probability of a genetic disease, including undiagnosed adult patients.

  1. Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.

    Science.gov (United States)

    Veerapandiyan, Aravindhan; Winchester, Sara A; Gallentine, William B; Smith, Edward C; Kansagra, Sujay; Hyland, Keith; Mikati, Mohamad A

    2011-03-01

    We describe the electroencephalographic and clinical seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy (PLP-DE) in two patients [diagnosis confirmed by low cerebrospinal fluid (CSF) PLP, complete resolution of previously intractable seizures with PLP supplementation, negative pyridoxine-dependent epilepsy CSF biomarkers, and/or positive disease causing pyridox(am)ine 5'-phosphate oxidase gene mutation] along with a comprehensive review of the literature. One patient presented with neonatal tonic status epilepticus with subsequent generalized tonic-clonic seizures, and the second, with refractory complex partial seizures starting at 2 years of age. The pretreatment EEG revealed, interictally, burst suppression, multifocal independent sharp waves, and electrical status epilepticus in sleep. Ictally and interictally, it revealed runs of unilateral spike/slow waves. Previously reported features include burst suppression, myoclonus, tonic seizures, clonic seizures, and spasms. In the appropriate clinical scenario, the aforementioned features should raise the possibility of PLP-DE and appropriate treatment should be initiated. The first late-onset case (at 2 years) of PLP-DE is reported.

  2. Epilepsy - what to ask your doctor - child

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000222.htm Epilepsy - what to ask your doctor - child To use ... this page, please enable JavaScript. Your child has epilepsy. Children with epilepsy have seizures. A seizure is ...

  3. Genetics Home Reference: pyridoxine-dependent epilepsy

    Science.gov (United States)

    ... Home Health Conditions pyridoxine-dependent epilepsy pyridoxine-dependent epilepsy Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in ...

  4. Future directions in the neuropsychology of epilepsy.

    Science.gov (United States)

    McDonald, Carrie R; Taylor, Joanne; Hamberger, Marla; Helmstaedter, Christoph; Hermann, Bruce P; Schefft, Bruce

    2011-09-01

    Two important themes for future clinical research in the neuropsychology of epilepsy are proposed: (1) the neurobiological abnormalities that underlie neuropsychological impairment in people with epilepsy, and (2) neuropsychological status of persons with new-onset epilepsy.

  5. Classification of seizures and epilepsy.

    Science.gov (United States)

    Riviello, James J

    2003-07-01

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

  6. Confronting the stigma of epilepsy

    Directory of Open Access Journals (Sweden)

    Sanjeev V Thomas

    2011-01-01

    Full Text Available Stigma and resultant psychosocial issues are major hurdles that people with epilepsy confront in their daily life. People with epilepsy, particularly women, living in economically weak countries are often ill equipped to handle the stigma that they experience at multiple levels. This paper offers a systematic review of the research on stigma from sociology and social psychology and details how stigma linked to epilepsy or similar conditions can result in stereotyping, prejudice and discrimination. We also briefly discuss the strategies that are most commonly utilized to mitigate stigma. Neurologists and other health care providers, social workers, support groups and policy makers working with epilepsy need to have a deep understanding of the social and cultural perceptions of epilepsy and the related stigma. It is necessary that societies establish unique determinants of stigma and set up appropriate strategies to mitigate stigma and facilitate the complete inclusion of people with epilepsy as well as mitigating any existing discrimination.

  7. Occult maxillofacial trauma in epilepsy.

    Science.gov (United States)

    Aragon, C E; Burneo, J G; Helman, J

    2001-11-15

    Epilepsy is a relatively common neurological disorder with incidence in both developed and developing countries. Head, facial, and oral injuries can result from seizures experienced by the epileptic patient. Patients with severe epilepsy often experience other dental disease due to their inability to properly maintain their oral hygiene. This paper presents a case of a chronic mandibular fracture following an episode of seizures in a patient with epilepsy in whom the fracture was discovered when he developed a fistula in the submandibular region.

  8. Parkinson's Disease and Cryptogenic Epilepsy.

    Science.gov (United States)

    Son, Andre Y; Biagioni, Milton C; Kaminski, Dorian; Gurevich, Alec; Stone, Britt; Di Rocco, Alessandro

    2016-01-01

    Epilepsy is an uncommon comorbidity of Parkinson's disease (PD) and has been considered not directly associated with PD. We present five patients (3 men and 2 women; ages 49-85) who had concomitant PD and cryptogenic epilepsy. Although rare, epilepsy can coexist with PD and their coexistence may influence the progression of PD. While this may be a chance association, an evolving understanding of the neurophysiological basis of either disease may suggest a mechanistic association.

  9. Parkinson's Disease and Cryptogenic Epilepsy

    Science.gov (United States)

    Kaminski, Dorian; Gurevich, Alec; Stone, Britt; Di Rocco, Alessandro

    2016-01-01

    Epilepsy is an uncommon comorbidity of Parkinson's disease (PD) and has been considered not directly associated with PD. We present five patients (3 men and 2 women; ages 49–85) who had concomitant PD and cryptogenic epilepsy. Although rare, epilepsy can coexist with PD and their coexistence may influence the progression of PD. While this may be a chance association, an evolving understanding of the neurophysiological basis of either disease may suggest a mechanistic association. PMID:27688919

  10. [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.

  11. Yoga for control of epilepsy

    National Research Council Canada - National Science Library

    Yardi, Nandan

    2001-01-01

    ...). This paper reviews articles related to yoga and epilepsy, seizures, EEG, autonomic changes, neuro-psychology, limbic system, arousal, sleep, brain plasticity, motor performance, brain imaging studies...

  12. [Dietary therapy of epilepsy].

    Science.gov (United States)

    Imai, Katsumi; Ishihara, Eiko; Ikeda, Hiroko

    2014-05-01

    Reappraisal of ketogenic diets (KD) were delayed in Japan compared to USA and Korea. The reasons are unknown, but possible explanations are (1) Japanese food culture prefers rice and less fat and (2) ACTH therapy is preferred for West syndrome in Japan. Since Japanese child neurologists were surprised at dramatic effects on glucose transporter 1 deficiency syndrome (Glut-1DS) in 2003, KD have been slowly accepted for treatment of epilepsy in Japan. New generation KD including modified Atkins diet (mAD) are preferred to classical KD. KD can be causal therapy in Glut-1DS and some of mitochondrial disorders, though anti-epileptic drugs are symptomatic therapy. KD can alleviate intractable seizures in epilepsies with brain malformation in addition to West syndrome and Dravet syndrome, etc. KD may work for brain tumor, cancer, neurodegenerative disorders including Alzheimer's disease. C7-8 triglycerides or fatty acid esters are under development as medicines replacing KD.

  13. Epilepsy and videogames.

    Science.gov (United States)

    Bureau, Michelle; Hirsch, Edouard; Vigevano, Federico

    2004-01-01

    Since the first case of videogame (VG) epilepsy was reported in 1981, many cases of seizures triggered by VGs were reported, not only in photosensitive, but also in non-photosensitive children and adolescents with epilepsy. We provide an overview of the literature with overall conclusions and recommendations regarding VG playing. Specific preventive measures concerning the physical characteristics of images included in commercially available VGs (flash rate, choice of colors, patterns, and contrast) can lead in the future to a clear decrease of this problem. In addition to the positive effect of such measures, the collaborative studies performed in France and in the rest of Europe have stressed the importance of a safe distance to the screen of > or = 2 m, and the less provocative role of 100-Hz screens.

  14. Burns and epilepsy.

    Science.gov (United States)

    Berrocal, M

    1997-01-01

    This is a report of the first descriptive analytic study of a group of 183 burn patients, treated in the Burn Unit at the University Hospital of Cartagena, Colombia during the period since January 1985 until December 1990. There is presented experience with the selected group of 24 patients in whom the diagnosis of burn was associated with epilepsy. There is also analysed and described the gravity of the scars sequels, neurological disorders, the complication of the burn and an impact of this problem on the patient, his (her) family and the community. It is very important to report that there was found Neurocisticercosis in 66.6% of the group of burn patients with epilepsy, and it is probably the first risk factor of burn in this group.

  15. Die Psychosen bei Epilepsie

    Directory of Open Access Journals (Sweden)

    Glauninger G

    2001-01-01

    Full Text Available In einer Übersicht werden die verschiedenen Formen psychotischer Zustandsbilder bei Epilepsiepatienten, deren Ätiopathogenese und Möglichkeiten der Behandlung dieser Störungen beschrieben. Risikofaktoren finden sich durch neurobiologische Gegebenheiten - besonders bei Mitbeteiligung des Temporallappens, durch psychosoziale Einflüsse und manchmal auch durch medikamentöse Behandlung. Anhand von Fallbeispielen sollen dem Leser typische Krankheitsverläufe von psychotischen Episoden bei Epilepsiepatienten, die zumeist erst bei einer schon länger dauernden Epilepsie auftreten, nähergebracht werden. Es wird deutlich, daß sich die Beschwerden von Patienten mit Epilepsie nicht auf iktale Phänomene beschränken. Bei der Behandlung dieser Patienten kommt einer guten interdisziplinären Zusammenarbeit besondere Bedeutung zu.

  16. [Biofeedback treatment for epilepsy].

    Science.gov (United States)

    Nagai, Yoko

    2014-05-01

    Pharmacological treatment is the mainstay for the treatment of epilepsy. However concerns regarding long-term side effects of drugs are increasingly voiced. Behavioral treatments including biofeedback, represents an alternative management option for the control of epilepsy. Biofeedback is a non-invasive bio-behavioral procedure through which patients can learn to gain psychophysiological control over seizures. This article will first overview seizure precipitation from a psychological perspective, and then introduce three major biofeedback treatments. Sensory motor rhythm (SMR) and slow cortical potential(SCP) biofeedback uses electroencephalographic parameters and are categorized as neurofeedback. Electrodermal activity (EDA) biofeedback focuses on modulation of peripheral sympathetic tone. The neural mechanisms underlying biofeedback treatment will be discussed in relation to thalamo-cortical regulation(of neural excitability across brain networks).

  17. 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.

  18. Phytocannabinoids and epilepsy.

    Science.gov (United States)

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

    2015-04-01

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

  19. Epilepsy with myoclonic absences.

    Science.gov (United States)

    Manonmani, V; Wallace, S J

    1994-04-01

    The cases are described of eight children, five of them girls, who had epilepsy with myoclonic absences. The mean age of onset was 4.9 years. Brief episodes of loss of awareness with bilateral clonic jerking of the upper limbs were associated with rhythmic 3 cycles/second spike-wave discharges on electroencephalogram. Generalised tonic-clonic or astatic seizures, or both, also occurred in seven patients. All now have learning difficulties, and seven have behavioural problems. Conventional treatment for absences was effective in only two children. Of six patients treated with lamotrigine, five have improved substantially, but only one is in sustained complete remission. One recently diagnosed patient continues to have frequent myoclonic absences. As the response to treatment and long term outcome are much poorer, it is important to differentiate myoclonic absences from typical childhood absence epilepsy.

  20. Tuberous Sclerosis with Epilepsy

    Science.gov (United States)

    2009-02-01

    50% of individuals with TS have learning difficulties that include autism , attention-deficit hyperactivity disorder (ADHD), behavioral issues...These findings of TS manifest themselves symptomatically as seizures, epilepsy, and learning disabilities including autism , ADHD, behavioral...molecular pathogenesis to rationale for treatment”. J Child Neurol 2005; 20:318 –325. 15) Chandra PS, Salamon N, Huang J, et al. “FDG-PET/MRI

  1. PET studies in epilepsy

    OpenAIRE

    Sarikaya, Ismet

    2015-01-01

    Various PET studies, such as measurements of glucose, serotonin and oxygen metabolism, cerebral blood flow and receptor bindings are availabe for epilepsy. 18Fluoro-2-deoxyglucose (18F-FDG) PET imaging of brain glucose metabolism is a well established and widely available technique. Studies have demonstrated that the sensitivity of interictal FDG-PET is higher than interictal SPECT and similar to ictal SPECT for the lateralization and localization of epileptogenic foci in presurgical patients...

  2. [Gelastic and cursive epilepsy].

    Science.gov (United States)

    Nakken, K O

    1989-02-20

    When the most prominent ictal symptom in an epileptic seizure is laughing or running the condition has been termed respectively gelastic or cursive epilepsy. The article presents five patients with these ictal symptoms and discusses their clinical and EEG-features, etiology, and localisation of lesions responsible for the seizures. Laughter and running as ictal symptoms are usually part of complex partial seizures involving limbic structures or their efferent or afferent pathways.

  3. Citation classics in epilepsy

    Directory of Open Access Journals (Sweden)

    Maryann Wilson

    2013-01-01

    Full Text Available BACKGROUND: The impact of a scientific article is proportional to the citations it has received. In this study, we set out to identify the most cited works in epileptology in order to evaluate research trends in this field. METHODS: According to the Web of Science database, articles with more than 400 citations qualify as "citation classics". We conducted a literature search on the ISI Web of Science bibliometric database for scientific articles relevant to epilepsy. RESULTS: We retrieved 67 highly cited articles (400 or more citations, which were published in 31 journals: 17 clinical studies, 42 laboratory studies, 5 reviews and 3 classification articles. Clinical studies consisted of epidemiological analyses (n=3, studies on the clinical phenomenology of epilepsy (n=5 – including behavioral and prognostic aspects – and articles focusing on pharmacological (n=6 and non-pharmacological (n=3 treatment. The laboratory studies dealt with genetics (n=6, animal models (n=27, and neurobiology (n=9 – including both neurophysiology and neuropathology studies. The majority (61% of citation classics on epilepsy were published after 1986, possibly reflecting the expansion of research interest in laboratory studies driven by the development of new methodologies, specifically in the fields of genetics and animal models. Consequently, clinical studies were highly cited both before and after the mid 80s, whilst laboratory researches became widely cited after 1990. CONCLUSIONS: Our study indicates that the main drivers of scientific impact in the field of epileptology have increasingly become genetic and neurobiological studies, along with research on animal models of epilepsy. These articles are able to gain the highest numbers of citations in the time span of a few years and suggest potential directions for future research.

  4. Neuropeptides in epilepsy.

    Science.gov (United States)

    Kovac, Stjepana; Walker, Matthew C

    2013-12-01

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

  5. Epilepsie und polyzystisches Ovarialsyndrom

    Directory of Open Access Journals (Sweden)

    Rösing B

    2012-01-01

    Full Text Available Epilepsien sind gehäuft mit endokrinen Funktionsstörungen vergesellschaftet. Bei Frauen gehören Zyklusstörungen, Hyperandrogenismus, Gewichtszunahme und Subfertilität dazu. Die vorliegende Übersicht zeigt aktuelle Daten und pathophysiologische Vorstellungen zum Zusammenhang zwischen einer Erkrankung mit Epilepsie, ihrer Therapie, dem polyzstischen Ovarialsyndrom (PCOS, sowie assoziierten metabolischen Abweichungen. Mögliche Ursachen für das Auftreten endokriner Störungen bei Epilepsie sind (1. der direkte Einfluss temporal gelegener epileptogener Läsionen oder der antiepileptischen Medikamente (AED auf die hypothalamisch-hypophysär gonadale Achse (HHG, (2. der Einfluss von AED auf die ovarielle Funktion, (3. der Einfluss der AED auf den Steroidhormonmetabolismus inklusive ihrer Serumeiweißbindung und (4. AED-bedingte sekundäre endokrine Störungen durch Gewichtszunahme und veränderten Insulinmetabolismus. Die regelmäßige ärztliche Kontrolle klinischer endokriner Parameter wie Gewichtsentwicklung, Regeltempostörungen und Hirsutismus ist bei Frauen mit Epilepsie obligat. Einzelne auffällige Laborparameter (z. B. sinkendes sexualhormonbindendes Globulin [SHBG], ansteigende Testosteronwerte, Dysbalance der Gonadotropine luteinisierendes Hormon zu follikelstimulierendem Hormon (LH/FSH oder bildgebende Befunde (polyzystische Ovarien ohne klinisches Korrelat sollten engmaschig, zunächst 1–3-monatlich kontrolliert werden, um entstehende Endokrinopathien frühzeitig behandeln zu können.

  6. The epilepsy of Dostoevsky.

    Science.gov (United States)

    Kiloh, L G

    1986-01-01

    The evidence in favour of a diagnosis of limbic epilepsy in the case of Dostoevsky is reviewed. Independent records from numerous biographical sources support the widely held view that Dostoevsky had frequent convulsive episodes, that the episodes began in childhood and continued throughout his life and that Dostoevsky himself was able accurately to record the premonitory aura and sequelae of such episodes. In addition the increasing memory impairment he suffered both for recent and remote events from the age of 40 supports the presence of progressive brain damage. This information renders implausible the analytic interpretations of Freud and his followers, that Dostoevsky's epilepsy was hysterical in origin, where epileptiform somatization was presumed to dispose of excessive psychic excitation, and that this process had its roots in Dostoevsky's unconscious hatred of his father and latent homosexuality. Nevertheless, Dostoevsky's neuroticism is clearly supported by his life-long hypochondriasis, obsessionality, paranoid traits, tendency to reactive depressions, and experience of quasi-hallucinatory episodes which were probably not epileptic in origin. Neither his epilepsy nor his neuroticism can explain or detract from the profundity and wisdom of the literary monuments which clearly attest Dostoevsky's ample genius.

  7. DEPRESSIVE DISORDERS IN EPILEPSY

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    Koralia Todorova

    2010-11-01

    Full Text Available Depressive disorders are the most frequent psychiatric comorbidity in epilepsy but very often remain unrecognized and untreated. We examined 103 epileptic patients, aged 18-60 years, 40 males and 63 females, for the presence of interictal depressive disorder. All subjects underwent clinical psychiatric examination, including evaluation on Hamilton Depression Rating Scale (HAM-D-17. A questionnaire for demographic and seizure-related variables was also completed. Concurrent depressive disorder (clinically presented according to ICD-10 diagnostic criteria affected 28.3% of all evaluated patients. Based on HAM-D-17 scores depression was defined as mild - 80% of all depressed patients, moderate - 17% and severe - 3%. Atypical presentation of interictal depressive disorder was frequent. Depression has a tremendous effect on one’s family, social and psychological functioning, even more than the actual seizure frequency and severity. Diagnostic difficulties come through the atypical mode of presentation of depressive disorders in epilepsy. Proper neuropsychiatric evaluation is essential for improving treatment and quality of life for patients with epilepsy.

  8. Nonpharmacological treatment of epilepsy

    Directory of Open Access Journals (Sweden)

    V S Saxena

    2011-01-01

    Full Text Available Nonpharmacological treatment of epilepsy includes surgery, vagal nerve stimulation, ketogenic diet, and other alternative/complementary therapies, e.g., yoga, Ayurveda, electroencephalography (EEG biofeedback technique, aerobic exercise, music therapy, transcranial magnetic stimulation, acupuncture, and herbal remedies (traditional Chinese medicine. Alternative therapies, despite the term, should not be considered as an alternative to antiepileptic medication; they complement accepted drug treatment. Alternative therapies like yoga, through techniques that relax the body and mind, reduce stress, improve seizure control, and also improve quality of life. Ketogenic diet is a safe and effective treatment for intractable epilepsies; it has been recommended since 1921. The diet induces ketosis, which may control seizures. The most successful treatment of epilepsy is with modern antiepileptic drugs, which can achieve control of seizures in 70-80% cases. Patients opt for alternative therapies because they may be dissatisfied with antiepileptic drugs due to their unpleasant side effects, the long duration of treatment, failure to achieve control of seizures, cultural beliefs and, in the case of women, because they wish to get pregnant Surgical treatment may lead to physical and psychological sequelae and is an option only for a minority of patients. This article presents supportive evidence from randomized controlled trials done to assess the benefit of non-pharmacological treatment.

  9. Dietary Therapies for Epilepsy

    Directory of Open Access Journals (Sweden)

    Eric H Kossoff

    2013-02-01

    Full Text Available Since their introduction in 1921, high-fat, low-carbohydrate "ketogenic" diets have been used worldwide for refractory childhood epilepsy. Approximately half of the children have at least half their seizures reduced, including 15% who are seizure free. The mechanisms of action of dietary therapies are under active investigation and appear to involve mitochondria. Once perceived as a last resort, modifications to initiation and maintenance, as well as the widespread use of pre-made ketogenic formulas have allowed dietary treatment to be used earlier in the course of epilepsy. For infantile spasms (West syndrome specifically, the ketogenic diet is successful about 50% of the time as a first-line treatment. New "alternative" diets such as the modified Atkins diet were created in 2003 and can be started more easily and are less restrictive. They may have particular value for countries in Asia. Side effects include constipation, dyslipidemia, growth slowing, acidosis, and kidney stones. Additionally, neurologists are studying ketogenic diets for conditions other than epilepsy, including Alzheimer's disease, autism, and brain tumors.

  10. Effect of gabapentin pretreatment on myoclonus after etomidate: a randomized, double-blind, placebo-controlled study

    Directory of Open Access Journals (Sweden)

    Mensure Yılmaz Çakirgöz

    2016-08-01

    Full Text Available Abstract Aim: To evaluate the effects of three different doses of gabapentin pretreatment on the incidence and severity of myoclonic movements linked to etomidate injection. Method: One hundered patients, between 18 and 60 years of age and risk category American Society of Anesthesiologists I-II, with planned elective surgery under general anesthetic were included in the study. The patients were randomly divided into four groups and 2 h before the operation were given oral capsules of placebo (Group P, n = 25, 400 mg gabapentin (Group G400, n = 25, 800 mg gabapentin (Group G800, n = 25 or 1200 mg gabapentin (Group G1200, n = 25. Side effects before the operation were recorded. After preoxygenation for anesthesia induction 0.3 mg kg−1 etomidate was administered for 10 s. A single anesthetist with no knowledge of the study medication evaluated sedation and myoclonic movements on a scale between 0 and 3. Two minutes after induction, 2 µg kg−1 fentanyl and 0.8 mg kg−1 rocuronium were administered for tracheal intubation. Results: Demographic data were similar. Incidence and severity of myoclonus in Group G1200 and Group G800 were significantly lower than in Group P; sedation incidence and level were appreciably higher compared to Group P and Group G400. While there was no difference in the incidence of myoclonus between Group P and Group G400, the severity of myoclonus in Group G400 was lower than in the placebo group. In the two-hour period before induction other than sedation none of the side effects related to gabapentin were observed in any patient. Conclusion: Pretreatment with 800 mg and 1200 mg gabapentin 2 h before the operation increased the level of sedation and reduced the incidence and severity of myoclonic movements due to etomidate.

  11. Understanding of Epilepsy by Children and Young People with Epilepsy

    Science.gov (United States)

    Lewis, Ann; Parsons, Sarah

    2008-01-01

    There is a striking dearth of studies focusing sensitively and in depth on the mainstream educational experiences of children with epilepsy, as viewed by those children themselves. The one-year project (2006-7) reported here addresses that gap. Children's perceptions about mainstream teachers' understanding of epilepsy and school-based needs are…

  12. Understanding of Epilepsy by Children and Young People with Epilepsy

    Science.gov (United States)

    Lewis, Ann; Parsons, Sarah

    2008-01-01

    There is a striking dearth of studies focusing sensitively and in depth on the mainstream educational experiences of children with epilepsy, as viewed by those children themselves. The one-year project (2006-7) reported here addresses that gap. Children's perceptions about mainstream teachers' understanding of epilepsy and school-based needs are…

  13. The extratemporal lobe epilepsies in the epilepsy monitoring unit

    Science.gov (United States)

    Dash, Deepa; Tripathi, Manjari

    2014-01-01

    Extratemporal lobe epilepsies (ETLE) are characterized by the epileptogenic foci outside the temporal lobe. They have a wide spectrum of semiological presentation depending upon the site of origin. They can arise from frontal, parietal, occipital lobes and from hypothalamic hamartoma. We discuss in this review the semiology of different types of ETLE encountered in the epilepsy monitoring unit. PMID:24791090

  14. Cannabinoids for epilepsy.

    Science.gov (United States)

    Gloss, David; Vickrey, Barbara

    2014-03-05

    Marijuana appears to have anti-epileptic effects in animals. It is not currently known if it is effective in patients with epilepsy. Some states in the United States of America have explicitly approved its use for epilepsy. To assess the efficacy and safety of cannabinoids when used as monotherapy or add-on treatment for people with epilepsy. We searched the Cochrane Epilepsy Group Specialized Register (9 September 2013), Cochrane Central Register of Controlled Trials (CENTRAL) in The Cochrane Library (2013, Issue 8), MEDLINE (Ovid) (9 September 2013), ISI Web of Knowledge (9 September 2013), CINAHL (EBSCOhost) (9 September 2013), and ClinicalTrials.gov (9 September 2013). In addition, we included studies we personally knew about that were not found by the searches, as well as searched the references in the identified studies. Randomized controlled trials (RCTs) whether blinded or not. Two authors independently selected trials for inclusion and extracted the data. The primary outcome investigated was seizure freedom at one year or more, or three times the longest interseizure interval. Secondary outcomes included responder rate at six months or more, objective quality of life data, and adverse events. We found four randomized trial reports that included a total of 48 patients, each of which used cannabidiol as the treatment agent. One report was an abstract and another was a letter to the editor. Anti-epileptic drugs were continued in all studies. Details of randomisation were not included in any study report. There was no investigation of whether the control and treatment participant groups were the same or different. All the reports were low quality.The four reports only answered the secondary outcome about adverse effects. None of the patients in the treatment groups suffered adverse effects. No reliable conclusions can be drawn at present regarding the efficacy of cannabinoids as a treatment for epilepsy. The dose of 200 to 300 mg daily of cannabidiol was

  15. Giant early components of somatosensory evoked potentials to tibial nerve stimulation in cortical myoclonus.

    Science.gov (United States)

    Anzellotti, Francesca; Onofrj, Marco; Bonanni, Laura; Saracino, Antonio; Franciotti, Raffaella

    2016-01-01

    Enlarged cortical components of somatosensory evoked potentials (giant SEPs) recorded by electroencephalography (EEG) and abnormal somatosensory evoked magnetic fields (SEFs) recorded by magnetoencephalography (MEG) are observed in the majority of patients with cortical myoclonus (CM). Studies on simultaneous recordings of SEPs and SEFs showed that generator mechanism of giant SEPs involves both primary sensory and motor cortices. However the generator sources of giant SEPs have not been fully understood as only one report describes clearly giant SEPs following lower limb stimulation. In our study we performed a combined EEG-MEG recording on responses elicited by electric median and tibial nerve stimulation in a patient who developed consequently to methyl bromide intoxication CM with giant SEPs to median and tibial nerve stimuli. SEPs wave shapes were identified on the basis of polarity-latency components (e.g. P15-N20-P25) as defined by earlier studies and guidelines. At EEG recording, the SEP giant component did not appear in the latency range of the first cortical component for median nerve SEP (N20), but appeared instead in the range of the P37 tibial nerve SEP, which is currently identified as the first cortical component elicited by tibial nerve stimuli. Our MEG and EEG SEPs recordings also showed that components in the latency range of P37 were preceded by other cortical components. These findings suggest that lower limb P37 does not correspond to upper limb N20. MEG results confirmed that giant SEFs are the second component from both tibial (N43m-P43m) and median (N27m-P27m) nerve stimulation. MEG dipolar sources of these giant components were located in the primary sensory and motor area.

  16. Trends and tenets in relapsing and progressive opsoclonus-myoclonus syndrome.

    Science.gov (United States)

    Pranzatelli, Michael R; Tate, Elizabeth D

    2016-05-01

    Despite advances in inducing remission in pediatric opsoclonus-myoclonus syndrome (OMS), relapse remains a challenge. By definition, relapse is not a characteristic of monophasic OMS, but occurs at any time in the course of multiphasic OMS. Due to variability and heterogeneity, patients are best approached and treated on a case-by-case basis, using precepts derived from clinical and scientific studies. Treatment of provocations, such as infection or immunotherapy tapering, is the short-term goal, but discovering unresolved neuroinflammation and re-configuring disease-modifying agents is crucial in the long-term. The working hypothesis is that much of the injury in OMS results from neuroinflammation involving dysregulated B cells, which may cause loss of tolerance and autoantibody production. Biomarkers of disease activity include cerebrospinal fluid (CSF) B cell frequency, oligoclonal bands (OCB), B cell attractants (CXCL13) and activating factors (BAFF). Measuring these markers comprises modern detection and characterization of neuroinflammation or verifies 'no evidence of disease activity'. The decision making process is three-tiered: deciding if the relapse is bone fide, identifying its etiology, and formulating a therapeutic plan. Relapsing-remitting OMS is treatable, and combination multimodal/multi-mechanistic immunotherapy is improving the outcome. However, some patients progress to a refractory state with cognitive impairment and disability from failure to go into remission, multiple relapses, or more aggressive disease. This report provides new insights on underappreciated risks and pitfalls inherent in relapse, pro-active efforts to avoid progression, the need for early and sufficient treatment beyond corticosteroids and immunoglobulins, and utilization of disease activity biomarkers to identify high-risk patients and safely withdraw immunotherapy.

  17. 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

  18. 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.

  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. The Music Student with Epilepsy

    Science.gov (United States)

    Murdock, Matthew C.; Morgan, Joseph A.; Laverghetta, Thomas S.

    2012-01-01

    The teacher-student relationship can afford the music educator an opportunity to be the first to identify behaviors associated with epilepsy. A case of a student with epilepsy, based on the authors' experience, is described in which the music educators were the first and only individuals to become aware of a change in the student's behavior, after…

  1. The Music Student with Epilepsy

    Science.gov (United States)

    Murdock, Matthew C.; Morgan, Joseph A.; Laverghetta, Thomas S.

    2012-01-01

    The teacher-student relationship can afford the music educator an opportunity to be the first to identify behaviors associated with epilepsy. A case of a student with epilepsy, based on the authors' experience, is described in which the music educators were the first and only individuals to become aware of a change in the student's behavior, after…

  2. Electroencephalography in dogs with epilepsy

    DEFF Research Database (Denmark)

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

    1999-01-01

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

  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. The Mozart Effect and Epilepsy

    OpenAIRE

    J Gordon Millichap

    2011-01-01

    Researchers at Kaohsiung Medical University and other centers in Taiwan studied the long-term effect of listening to Mozart K-448 (Sonata for Two Pianos in D major) on the frequency of epileptiform discharges in children with epilepsy, and analyzed the relationship between the number of epileptiform discharges and foci of origin, epilepsy etiology, age, IQ, and gender.

  5. Epilepsy, language, and social skills.

    Science.gov (United States)

    Caplan, Rochelle

    2017-10-04

    Language and social skills are essential for intrapersonal and interpersonal functioning and quality of life. Since epilepsy impacts these important domains of individuals' functioning, understanding the psychosocial and biological factors involved in the relationship among epilepsy, language, and social skills has important theoretical and clinical implications. This review first describes the psychosocial and biological factors involved in the association between language and social behavior in children and in adults and their relevance for epilepsy. It reviews the findings of studies of social skills and the few studies conducted on the inter-relationship of language and social skills in pediatric and adult epilepsy. The paper concludes with suggested future research and clinical directions that will enhance early identification and treatment of epilepsy patients at risk for impaired language and social skills. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. [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.

  7. Gelastic epilepsy: Beyond hypothalamic hamartomas

    Directory of Open Access Journals (Sweden)

    Reinaldo Uribe-San-Martin

    2015-01-01

    Full Text Available Gelastic epilepsy or laughing seizures have been historically related to children with hypothalamic hamartomas. We report three adult patients who had gelastic epilepsy, defined as the presence of seizures with a prominent laugh component, including brain imaging, surface/invasive electroencephalography, positron emission tomography, and medical/surgical outcomes. None of the patients had hamartoma or other hypothalamic lesion. Two patients were classified as having refractory epilepsy (one had biopsy-proven neurocysticercosis and the other one hippocampal sclerosis and temporal cortical dysplasia. The third patient had no lesion on MRI and had complete control with carbamazepine. Both lesional patients underwent resective surgery, one with complete seizure control and the other one with poor outcome. Although hypothalamic hamartomas should always be ruled out in patients with gelastic epilepsy, laughing seizures can also arise from frontal and temporal lobe foci, which can be surgically removed. In addition, we present the first case of gelastic epilepsy due to neurocysticercosis.

  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. 38 CFR 4.122 - Psychomotor epilepsy.

    Science.gov (United States)

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2010-07-01 2010-07-01 false Psychomotor epilepsy. 4... Psychomotor epilepsy. The term psychomotor epilepsy refers to a condition that is characterized by seizures... psychomotor epilepsy vary from patient to patient and in the same patient from seizure to seizure. (b) A...

  11. Epileptogenic potential of mefloquine chemoprophylaxis: a pathogenic hypothesis

    Science.gov (United States)

    Nevin, Remington L

    2009-01-01

    Background Mefloquine has historically been considered safe and well-tolerated for long-term malaria chemoprophylaxis, but prescribing it requires careful attention in order to rule out contraindications to its use. Contraindications include a history of certain neurological conditions that might increase the risk of seizure and other adverse events. The precise pathophysiological mechanism by which mefloquine might predispose those with such a history to seizure remains unclear. Presentation of the hypothesis Studies have demonstrated that mefloquine at doses consistent with chemoprophylaxis accumulates at high levels in brain tissue, which results in altered neuronal calcium homeostasis, altered gap-junction functioning, and contributes to neuronal cell death. This paper reviews the scientific evidence associating mefloquine with alterations in neuronal function, and it suggests the novel hypothesis that among those with the prevalent EPM1 mutation, inherited and mefloquine-induced impairments in neuronal physiologic safeguards might increase risk of GABAergic seizure during mefloquine chemoprophylaxis. Testing and implications of the hypothesis Consistent with case reports of tonic-clonic seizures occurring during mefloquine chemoprophylaxis among those with family histories of epilepsy, it is proposed here that a new contraindication to mefloquine use be recognized for people with EPM1 mutation and for those with a personal history of myoclonus or ataxia, or a family history of degenerative neurologic disorder consistent with EPM1. Recommendations and directions for future research are presented. PMID:19656408

  12. Epileptogenic potential of mefloquine chemoprophylaxis: a pathogenic hypothesis

    Directory of Open Access Journals (Sweden)

    Nevin Remington L

    2009-08-01

    Full Text Available Abstract Background Mefloquine has historically been considered safe and well-tolerated for long-term malaria chemoprophylaxis, but prescribing it requires careful attention in order to rule out contraindications to its use. Contraindications include a history of certain neurological conditions that might increase the risk of seizure and other adverse events. The precise pathophysiological mechanism by which mefloquine might predispose those with such a history to seizure remains unclear. Presentation of the hypothesis Studies have demonstrated that mefloquine at doses consistent with chemoprophylaxis accumulates at high levels in brain tissue, which results in altered neuronal calcium homeostasis, altered gap-junction functioning, and contributes to neuronal cell death. This paper reviews the scientific evidence associating mefloquine with alterations in neuronal function, and it suggests the novel hypothesis that among those with the prevalent EPM1 mutation, inherited and mefloquine-induced impairments in neuronal physiologic safeguards might increase risk of GABAergic seizure during mefloquine chemoprophylaxis. Testing and implications of the hypothesis Consistent with case reports of tonic-clonic seizures occurring during mefloquine chemoprophylaxis among those with family histories of epilepsy, it is proposed here that a new contraindication to mefloquine use be recognized for people with EPM1 mutation and for those with a personal history of myoclonus or ataxia, or a family history of degenerative neurologic disorder consistent with EPM1. Recommendations and directions for future research are presented.

  13. Epilepsie und psychiatrische Erkrankungen

    Directory of Open Access Journals (Sweden)

    Baumgartner C

    2008-01-01

    Full Text Available Psychiatrische Erkrankungen treten bei Epilepsiepatienten signifikant häufiger auf als in der Allgemeinbevölkerung und als bei Patienten mit anderen chronischen Erkrankungen. Die Depression stellt die häufigste psychiatrische Begleiterkrankung bei Epilepsie dar. Die Häufigkeit von Depressionen korreliert mit der Anfallskontrolle: Sie liegt zwischen 3 und 9 % bei gut kontrollierter Epilepsie, jedoch zwischen 20 und 55 % bei Patienten mit therapieresistenten Epilepsien. Umgekehrt ist bei Patienten mit neu diagnostizierten Epilepsien anamnestisch signifikant häufiger eine Depression zu erheben als in einem Vergleichskollektiv. Diese bidirektionale Beziehung zwischen Epilepsie und Depression könnte durch gemeinsame Pathomechanismen beider Erkrankungen erklärt werden. Obwohl das Vorliegen und der Schweregrad einer Depression die wichtigsten Prädiktoren für die Lebensqualität bei Epilepsiepatienten darstellen, werden Depressionen bei Epilepsiepatienten unterdiagnostiziert und unterbehandelt. Eine psychopharmakologische Behandlung sollte bei Vorliegen einer Begleitdepression deshalb unverzüglich initiiert werden, das epileptogene Potential von Antidepressiva stellt dabei ein vernachlässigbares Risiko dar. Die Prävalenz psychotischer Störungen bei Epilepsiepatienten liegt zwischen 2 und 8 %, wobei sogenannte episodische Psychosen (iktale, postiktale und Alternativpsychosen, die in einem zeitlichen Bezug zum Anfallsgeschehen stehen, und chronische Psychosen (interiktale Psychosen ohne zeitlichen Bezug zu den Anfällen, unterschieden werden können. Die Prävalenz von Angststörungen bei Epilepsiepatienten liegt zwischen 15 und 25 %. Man kann zwischen präiktaler, iktaler, postiktaler und interiktaler Angst unterscheiden.

  14. Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia

    Science.gov (United States)

    Grütz, Karen; Seibler, Philip; Weissbach, Anne; Lohmann, Katja; Carlisle, Francesca A.; Blake, Derek J.; Westenberger, Ana; Klein, Christine; Grünewald, Anne

    2017-01-01

    In neuropathology research, induced pluripotent stem cell (iPSC)-derived neurons are considered a tool closely resembling the patient brain. Albeit in respect to epigenetics, this concept has been challenged. We generated iPSC-derived cortical neurons from myoclonus-dystonia patients with mutations (W100G and R102X) in the maternally imprinted ε-sarcoglycan (SGCE) gene and analysed properties such as imprinting, mRNA and protein expression. Comparison of the promoter during reprogramming and differentiation showed tissue-independent differential methylation. DNA sequencing with methylation-specific primers and cDNA analysis in patient neurons indicated selective expression of the mutated paternal SGCE allele. While fibroblasts only expressed the ubiquitous mRNA isoform, brain-specific SGCE mRNA and ε-sarcoglycan protein were detected in iPSC-derived control neurons. However, neuronal protein levels were reduced in both mutants. Our phenotypic characterization highlights the suitability of iPSC-derived cortical neurons with SGCE mutations for myoclonus-dystonia research and, in more general terms, prompts the use of iPSC-derived cellular models to study epigenetic mechanisms impacting on health and disease. PMID:28155872

  15. Epilepsy and anxiety

    Directory of Open Access Journals (Sweden)

    Marly de Albuquerque

    1993-09-01

    Full Text Available We have analyzed 155 subjects with STAI (State-Trait Anxiety Inventory: 75 epileptic patients and 80 normal subjects used as a control group. A higher trait-anxiety score (chronic anxiety than that of controls was found for the epileptic group. For the epileptic group higher levels of the A-trait occurred in patients with EEG abnormalities with left temporal localization. We have also observed that the shorter the epilepsy lasts (less than two years, the higher the trait-anxiety levels. Convulsions and awareness loss during epileptic seizures do not modify state and trait-anxiety scores.

  16. Epilepsy in Dante's poetry.

    Science.gov (United States)

    Mula, Marco

    2016-04-01

    Dante Alighieri is the greatest Italian poet and one of the most important writers in Western literature. He is best known for the epic poem "Commedia", later named "La Divina Commedia" that has profoundly influenced not only poetic imagination but also all subsequent allegorical creations of imaginary worlds in literature. This paper examines the poetic description of some episodes of loss of consciousness in Dante's poetry discussing how and why typical elements of epileptic seizures have been used. On the 750th anniversary of Dante's birth, his poetry still remains to be an inspiring source of debate and reflection. This article is part of a Special Issue entitled "Epilepsy, Art, and Creativity".

  17. Yoga for epilepsy.

    Science.gov (United States)

    Panebianco, Mariangela; Sridharan, Kalpana; Ramaratnam, Sridharan

    2015-05-02

    This is an updated version of the original Cochrane review published in The Cochrane Library, Issue 1, 2002.Yoga may induce relaxation and stress reduction, and influence the electroencephalogram and the autonomic nervous system, thereby controlling seizures. Yoga would be an attractive therapeutic option for epilepsy if proved effective. To assess whether people with epilepsy treated with yoga:(a) have a greater probability of becoming seizure free;(b) have a significant reduction in the frequency or duration of seizures, or both; and(c) have a better quality of life. We searched the Cochrane Epilepsy Group Specialized Register (26 March 2015), the Cochrane Central Register of Controlled Trials (CENTRAL, The Cochrane Library, 26 March 2015), MEDLINE (Ovid, 1946 to 26 March 2015), SCOPUS (1823 to 9 January 2014), ClinicalTrials.gov (26 March 2015), the World Health Organization (WHO) International Clinical Trials Registry Platform ICTRP (26 March 2015), and also registries of the Yoga Biomedical Trust and the Research Council for Complementary Medicine. In addition, we searched the references of all the identified studies. No language restrictions were imposed. The following study designs were eligible for inclusion: randomised controlled trials (RCT) of treatment of epilepsy with yoga. Eligible participants were adults with uncontrolled epilepsy comparing yoga with no treatment or different behavioural treatments. Three review authors independently selected trials for inclusion and extracted data. The following outcomes were assessed: (a) percentage of people rendered seizure free; (b) seizure frequency and duration; (c) quality of life. Analyses were on an intention-to-treat basis. Odds ratio (OR) with 95% confidence intervals (95% Cl) were estimated for the outcomes. Two unblinded trials recruited a total of 50 people (18 treated with yoga and 32 to control interventions). Antiepileptic drugs were continued in all the participants. Baseline phase lasted 3 months

  18. MATERNALLY INHERITED HEARING-LOSS, ATAXIA AND MYOCLONUS ASSOCIATED WITH A NOVEL POINT MUTATION IN MITOCHONDRIAL TRNA(SER(UCN)) GENE

    NARCIS (Netherlands)

    TIRANTI, [No Value; CHARIOT, P; CARELLA, F; TOSCANO, A; SOLIVERI, P; GIRLANDA, P; CARRARA, F; FRATTA, GM; REID, FM; MARIOTTI, C; ZEVIANI, M

    1995-01-01

    We report on a new maternally-inherited syndrome characterized by a combination of sensorineural hearing loss, ataxia and myoclonus in a large kindred from Sicily, Hearing loss was the most widespread and sometimes the only symptom found in family members. Sequence analysis of the mitochondrial DNA

  19. Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia?: a study of a large Dutch M-D family

    NARCIS (Netherlands)

    Foncke, E.M.J.; Cath, D.; Zwinderman, K.; Smit, J.; Schmand, B.; Tijssen, M.

    2009-01-01

    AB Background: Myoclonus-dystonia (M-D) is a movement disorder frequently caused by mutations in the epsilon-sarcoglycan gene (SGCE, DYT11). In several M-D families, psychiatric symptoms accompanying the motor symptoms have been reported, but a shared genetic etiology remains unclear. Objective: To

  20. Treatment of epilepsy in adults.

    Science.gov (United States)

    Burakgazi, Evren; French, Jacqueline A

    2016-09-01

    Epilepsy is a chronic neurological disorder in adults and requires treatment with antiepileptic medication. While the majority of patients with epilepsy can be treated with medication, about one third will fail on medical treatment. Therefore, other treatment options such as surgery, devices, and the ketogenic diet are other options to consider, in addition to medical treatment. The treatment of epilepsy requires many other factors to be taken into consideration, and these include, but are not limited to, age, gender, coexistent medical conditions, and the use of concomitant medications. The goal of treatment is to provide optimal seizure control while using the least possible number of medications, particularly for young females at reproductive age or the elderly who may suffer from other medical diseases and receive other concomitant medications. Certain conditions may co-exist with epilepsy, such as migraine, mood disorder, and memory disturbances, therefore the decision to choose the most appropriate medication for epilepsy patients should also involve treatment of these conditions. Here, we review current clinical practice in epilepsy and focus on the most common problems and conditions that clinicians face on a daily basis to treat adult patients with epilepsy. Side effect profiles, spectrum of efficacy and optimal choices per predominant type of seizures are summarized and can be used for educational purposes.

  1. Priorities in pediatric epilepsy research

    Science.gov (United States)

    Baca, Christine B.; Loddenkemper, Tobias; Vickrey, Barbara G.; Dlugos, Dennis

    2013-01-01

    The Priorities in Pediatric Epilepsy Research workshop was held in the spirit of patient-centered and patient-driven mandates for developing best practices in care, particularly for epilepsy beginning under age 3 years. The workshop brought together parents, representatives of voluntary advocacy organizations, physicians, allied health professionals, researchers, and administrators to identify priority areas for pediatric epilepsy care and research including implementation and testing of interventions designed to improve care processes and outcomes. Priorities highlighted were 1) patient outcomes, especially seizure control but also behavioral, academic, and social functioning; 2) early and accurate diagnosis and optimal treatment; 3) role and involvement of parents (communication and shared decision-making); and 4) integration of school and community organizations with epilepsy care delivery. Key factors influencing pediatric epilepsy care included the child's impairments and seizure presentation, parents, providers, the health care system, and community systems. Care was represented as a sequential process from initial onset of seizures to referral for comprehensive evaluation when needed. We considered an alternative model in which comprehensive care would be utilized from onset, proactively, rather than reactively after pharmacoresistance became obvious. Barriers, including limited levels of evidence about many aspects of diagnosis and management, access to care—particularly epilepsy specialty and behavioral health care—and implementation, were identified. Progress hinges on coordinated research efforts that systematically address gaps in knowledge and overcoming barriers to access and implementation. The stakes are considerable, and the potential benefits for reduced burden of refractory epilepsy and lifelong disabilities may be enormous. PMID:23966254

  2. Epilepsy care in general practice.

    LENUS (Irish Health Repository)

    Varley, J

    2009-06-01

    Epilepsy care in Ireland is shared between primary, secondary and tertiary care services with the General Practitioner (GP) managing the process. Barriers to effective epilepsy care in Irish general practice remain undocumented although sub-optimal and fragmented services are frequently anecdotally reported. This survey of Irish GPs reports on such barriers to epilepsy care and on the Information & Communication Technology (ICT) issues potentially relevant to the use of an epilepsy specific Electronic Patient Record (EPR). The response rate was 247\\/700 (35.3%). Respondents supported the concept of shared care for epilepsy 237 (96%) however they were very dissatisfied with existing neurology services, including pathways of referral 207 (84%) and access to specialist neurology advice and investigations 232 (94%). They reported that neurology services and investigations may be accessed more expeditiously by patients with private health insurance than those without 178 (72%). Consequently many patients are referred to the emergency department for assessment and treatment 180 (73%). A deficit in epilepsy care expertise among GPs was acknowledged 86 (35%). While computerisation of GP practices appears widespread 230 (93%), just over half the respondents utilise available electronic functionalities specific to chronic disease management. GP specific electronic systems infrequently link or communicate with external electronic sources 133 (54%). While the current pathways of care for epilepsy in Ireland appear fragmented and inadequate, further investigations to determine the quality and cost effectiveness of the current service are required.

  3. Epilepsy care in general practice.

    Science.gov (United States)

    Varley, J; Fitzsimons, M; Delanty, N; Collins, C; Boland, M; Normand, C

    2009-06-01

    Epilepsy care in Ireland is shared between primary, secondary and tertiary care services with the General Practitioner (GP) managing the process. Barriers to effective epilepsy care in Irish general practice remain undocumented although sub-optimal and fragmented services are frequently anecdotally reported. This survey of Irish GPs reports on such barriers to epilepsy care and on the Information & Communication Technology (ICT) issues potentially relevant to the use of an epilepsy specific Electronic Patient Record (EPR). The response rate was 247/700 (35.3%). Respondents supported the concept of shared care for epilepsy 237 (96%) however they were very dissatisfied with existing neurology services, including pathways of referral 207 (84%) and access to specialist neurology advice and investigations 232 (94%). They reported that neurology services and investigations may be accessed more expeditiously by patients with private health insurance than those without 178 (72%). Consequently many patients are referred to the emergency department for assessment and treatment 180 (73%). A deficit in epilepsy care expertise among GPs was acknowledged 86 (35%). While computerisation of GP practices appears widespread 230 (93%), just over half the respondents utilise available electronic functionalities specific to chronic disease management. GP specific electronic systems infrequently link or communicate with external electronic sources 133 (54%). While the current pathways of care for epilepsy in Ireland appear fragmented and inadequate, further investigations to determine the quality and cost effectiveness of the current service are required.

  4. [Memory and epilepsy].

    Science.gov (United States)

    Dupont, Sophie

    2010-01-01

    Medial temporal lobe epilepsy is a chronic neurological disease that begins in the early age and that is associated with frequent and disturbing memory deficits. Repeated seizures will lead to the formation of an epileptogenic network that may interfere with physiological neuronal networks and thus with normal brain function: by direct activation or indirectly by deactivation during a seizure, see for example the dreamy state or the ''déja vécu'' phenomenon during temporal seizures; by ictal or post-ictal inhibition, see for example ictal or post-ictal amnesia; by a repetitive and chronic modulation leading to a reorganization of the physiological neuronal networks. The study of these interactions between epileptic and physiological neural networks must lead to better explore the patient's memory and predict memory worsening before temporal lobe surgery and to better understand the reorganization of memory networks in chronic epilepsy. The goal is double: (1) improve the prediction of post-operative memory worsening and guide rehabilitation in epileptic clinical practice; (2) improve the pathophysiological knowledge about memory processes. © Société de Biologie, 2010.

  5. Epilepsy in Dostoevsky's novels.

    Science.gov (United States)

    Voskuil, Piet H A

    2013-01-01

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

  6. Machado de Assis's epilepsy.

    Science.gov (United States)

    Guerreiro, C A

    1992-09-01

    Machado de Assis (1839-1908) is considered the most important Brazilian writer and a great universal literary figure. Little is know about his medical, personal and family history. He hid his "disease" as much as possible. Machado referred to "strange things" having happened to him in his childhood. He described seizures as "nervous phenomena", "absenses", "my illness". Laet observed a seizure and described it as: "... when Machado approached us and spoke to me in disconnected words. I looked at him in surprise and found his features altered. Knowing that from time to time he had nervous problems, ... and only permitted Machado take the Laranjeiras Street car, when I saw that he was completely well". A photographically documented seizure is shown. Alencar wrote, "The preoccupation with health was frequent: either he was having the consequences of a fit or was foreboding one". It is clear that Machado presented localized symptomatic epilepsy with complex partial seizures secondarily generalized of unknown etiology. The seizures which began in infancy or childhood had remission in adolescence and then recurred in his thirties and became more frequent in his later years. His depression got markedly worse with age. In our opinion, the greatest consequence of Machado's epilepsy, was his psychological suffering due to the prejudice of the times. Despite this Machado showed all his genius, which is still actual and universal.

  7. Natural approaches to epilepsy.

    Science.gov (United States)

    Gaby, Alan R

    2007-03-01

    This article reviews research on the use of diet, nutritional supplements, and hormones in the treatment of epilepsy. Potentially beneficial dietary interventions include identifying and treating blood glucose dysregulation, identifying and avoiding allergenic foods, and avoiding suspected triggering agents such as alcohol, aspartame, and monosodium glutamate. The ketogenic diet may be considered for severe, treatment-resistant cases. The Atkins diet (very low in carbohydrates) is a less restrictive type of ketogenic diet that may be effective in some cases. Nutrients that may reduce seizure frequency include vitamin B6, magnesium, vitamin E, manganese, taurine, dimethylglycine, and omega-3 fatty acids. Administration of thiamine may improve cognitive function in patients with epilepsy. Supplementation with folic acid, vitamin B6, biotin, vitamin D, and L-carnitine may be needed to prevent or treat deficiencies resulting from the use of anticonvulsant drugs. Vitamin K1 has been recommended near the end of pregnancy for women taking anticonvulsants. Melatonin may reduce seizure frequency in some cases, and progesterone may be useful for women with cyclic exacerbations of seizures. In most cases, nutritional therapy is not a substitute for anticonvulsant medications. However, in selected cases, depending on the effectiveness of the interventions, dosage reductions or discontinuation of medications may be possible.

  8. Phenotype definition in epilepsy.

    Science.gov (United States)

    Winawer, Melodie R

    2006-05-01

    Phenotype definition consists of the use of epidemiologic, biological, molecular, or computational methods to systematically select features of a disorder that might result from distinct genetic influences. By carefully defining the target phenotype, or dividing the sample by phenotypic characteristics, we can hope to narrow the range of genes that influence risk for the trait in the study population, thereby increasing the likelihood of finding them. In this article, fundamental issues that arise in phenotyping in epilepsy and other disorders are reviewed, and factors complicating genotype-phenotype correlation are discussed. Methods of data collection, analysis, and interpretation are addressed, focusing on epidemiologic studies. With this foundation in place, the epilepsy subtypes and clinical features that appear to have a genetic basis are described, and the epidemiologic studies that have provided evidence for the heritability of these phenotypic characteristics, supporting their use in future genetic investigations, are reviewed. Finally, several molecular approaches to phenotype definition are discussed, in which the molecular defect, rather than the clinical phenotype, is used as a starting point.

  9. Managing epilepsy in pregnancy

    Directory of Open Access Journals (Sweden)

    Sanjeev V Thomas

    2011-01-01

    Full Text Available There are close to one and half million women with epilepsy (WWE in reproductive age group in India. WWE have several unique gender-specific problems in the biological and social domains. Women experience more social stigma from epilepsy and have more difficulty with education and employment. They have more difficulty to get married and sustain successful family life. Reproductive hormones like estrogen and progesterone have opposing effect on seizure threshold. WWE have increased risk of infertility. About 10% of their babies may have major congenital malformations. Most of the adverse biological outcomes for WWE are related to adverse effects of antiepileptic drugs (AEDs. Traditional AEDs like phenobarbitone and sodium valproate are probably associated with increased risk of fetal malformations or other adverse fetal outcomes. Polytherapy and use of high dose of any AED is associated with higher risk fetal complications. It is very important that all WWE have a preconception evaluation done by a neurologist, when the need to continue AEDs or possibility of reducing AED load could be assessed. All WWE need to take folic acid 5 mg daily during preconception period and pregnancy. They should undergo a detailed screening for fetal malformations between 12 and 18 weeks of pregnancy. The neurologist, gynecologist, imageologist and pediatrician need to work as a team while managing pregnancy in WWE. It is important to reassure WWE and their relatives that pregnancy is safe in WWE and their children are healthy in more than 90% instances.

  10. Managing epilepsy in pregnancy.

    Science.gov (United States)

    Thomas, Sanjeev V

    2011-01-01

    There are close to one and half million women with epilepsy (WWE) in reproductive age group in India. WWE have several unique gender-specific problems in the biological and social domains. Women experience more social stigma from epilepsy and have more difficulty with education and employment. They have more difficulty to get married and sustain successful family life. Reproductive hormones like estrogen and progesterone have opposing effect on seizure threshold. WWE have increased risk of infertility. About 10% of their babies may have major congenital malformations. Most of the adverse biological outcomes for WWE are related to adverse effects of antiepileptic drugs (AEDs). Traditional AEDs like phenobarbitone and sodium valproate are probably associated with increased risk of fetal malformations or other adverse fetal outcomes. Polytherapy and use of high dose of any AED is associated with higher risk fetal complications. It is very important that all WWE have a preconception evaluation done by a neurologist, when the need to continue AEDs or possibility of reducing AED load could be assessed. All WWE need to take folic acid 5 mg daily during preconception period and pregnancy. They should undergo a detailed screening for fetal malformations between 12 and 18 weeks of pregnancy. The neurologist, gynecologist, imageologist and pediatrician need to work as a team while managing pregnancy in WWE. It is important to reassure WWE and their relatives that pregnancy is safe in WWE and their children are healthy in more than 90% instances.

  11. Neuroimaging in Epilepsy.

    Science.gov (United States)

    Middlebrooks, Erik H; Ver Hoef, Lawrence; Szaflarski, Jerzy P

    2017-04-01

    In recent years, the field of neuroimaging has undergone dramatic development. Specifically, of importance for clinicians and researchers managing patients with epilepsies, new methods of brain imaging in search of the seizure-producing abnormalities have been implemented, and older methods have undergone additional refinement. Methodology to predict seizure freedom and cognitive outcome has also rapidly progressed. In general, the image data processing methods are very different and more complicated than even a decade ago. In this review, we identify the recent developments in neuroimaging that are aimed at improved management of epilepsy patients. Advances in structural imaging, diffusion imaging, fMRI, structural and functional connectivity, hybrid imaging methods, quantitative neuroimaging, and machine-learning are discussed. We also briefly summarize the potential new developments that may shape the field of neuroimaging in the near future and may advance not only our understanding of epileptic networks as the source of treatment-resistant seizures but also better define the areas that need to be treated in order to provide the patients with better long-term outcomes.

  12. SPECT in Focal Epilepsies

    Directory of Open Access Journals (Sweden)

    Roderick Duncan

    2000-01-01

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

  13. Manual quantitative assessment of amplitude and sleep stage distribution of excessive fragmentary myoclonus.

    Science.gov (United States)

    Hoque, Romy; McCarty, David E; Chesson, Andrew L

    2013-01-15

    Excessive fragmentary myoclonus (EFM) consists of brief, asynchronous, twitch-like movements appearing asymmetrically in sleep. The new AASM Manual for the Scoring of Sleep and Associated Events identifies some EFM scoring criteria but does not provide amplitude criteria for scoring EFM. Older observational series have used 50 μVs. We report data from various amplitude criteria using blinded comparisons. EFMs were analyzed on the polysomnograms of 8 patients (7 men and 1 woman, mean age 57 years, range: 47-79) using a standardized protocol for sensitivity, tonus threshold, impedance, amplitude measurements, and sleep stage. The first 20 minutes each of wake, Stage 1-2, SWS, and REM were analyzed. EFMs ≥ 25, ≥ 40, and ≥ 50 microvolts (μVs) in negative deflection above the baseline were counted in tibialis anterior muscle electromyography (EMG) channels bilaterally. The mean EFM index per minute for wake, regardless of impedance, was: 7.19 ± 5.90 for ≥ 25 μV amplitude; 2.43 ± 2.02 for ≥ 40 μVs; and 2.08 ± 2.23 for ≥ 50 μVs. For sleep stages, the EFM index by stage and amplitude criteria used for measurements were: Stage 1-2: 7.38 ± 5.79 for ≥ 25 μVs; 3.13 ± 3.33 for ≥ 40 μVs; and 2.36 ± 2.66 for ≥ 50 μVs; SWS: 10.05 ± 8.04 for ≥ 25 μVs; 2.71 ± 3.13 for ≥ 40 μVs; and 1.38 ± 1.92 for ≥ 50 μVs; Total REM: 15.96 ± 11.32 for ≥ 25 μVs; 6.32 ± 4.25 for ≥ 40 μVs; and 3.94 ± 3.73 for ≥ 50 μVs; Phasic REM: 19.69 ± 15.45 for ≥ 25 μVs; 8.63 ± 7.06 for ≥ 40 μVs; and 5.52 ± 6.44 for ≥ 50 μVs; Non-phasic REM: 13.93 ± 11.31 for ≥ 25 μVs; 5.16 ± 3.57 for ≥ 40 μVs; and 3.20 ± 2.92 for ≥ 50 μVs. EFM rates increase with SWS and total REM with the highest EFM rates occurring during phasic REM. EFM rates were increased across all sleep stages when impedance was > 30 KΩ.

  14. 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.

  15. [Images of epilepsy in Shakespeare].

    Science.gov (United States)

    Breuer, Horst

    2002-01-01

    Epilepsy and the "falling sickness" are mentioned three times in Shakespeare, in Julius Caesar, I.ii, Othello, IV.i., and figuratively in King Lear, II.ii. The present article surveys these passages in the context of modern research findings, literary as well as medico-historical. It adds further material from Renaissance texts and concludes that epilepsy is an omnibus term for a variety of symptoms and pathological conditions, and that Shakespeare's idea of epilepsy is closer to popular stereotypes than has hitherto been assumed.

  16. 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

  17. Patterns of depressive symptoms in epilepsy

    Directory of Open Access Journals (Sweden)

    Nikolaos I. Triantafyllou

    2013-04-01

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

  18. 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.

  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. OF EPILEPSY IN TROPICAL COUNTRIES

    African Journals Online (AJOL)

    League Against Epilepsy (Commission on Tropical Diseases,. 1993-1997). ... confirmation of diagnosis, natural history of the seizure disor- der, past medical history, ... This provides the means to localize a specific subject (the address should ...

  1. Discordant Epilepsy in Monozygous Twins

    OpenAIRE

    2001-01-01

    Twelve monozygotic twins, discordant for epilepsy, were analysed for nonhereditary etiological factors by clinical history, MRI, and quantitative brain volume studies at the Brain Research Institute, University of Melbourne, Victoria, Australia.

  2. Fever, febrile seizures and epilepsy

    OpenAIRE

    2007-01-01

    Seizures induced by fever (febrile seizures) are the most common type of pathological brain activity in infants and children. These febrile seizures and their potential contribution to the mechanisms of limbic (temporal lobe) epilepsy have been a topic of major clinical and scientific interest. Key questions include the mechanisms by which fever generates seizures, the effects of long febrile seizures on neuronal function and the potential contribution of these seizures to epilepsy. This revi...

  3. [The systematization of epilepsy remissions].

    Science.gov (United States)

    Gromov, S A; Fedotenkova, T N

    1995-01-01

    Problems of systematization of remissions of epileptic seizures and epilepsy are discussed on the basis of clinical examination of 341 epileptic patients with seizures suppressed for many years and international classifications of epilepsy. A classification, developed by the authors, is presented. It reflects stages of regress of the disease in achievement of prolonged (for years) control of seizures. The possibility of drug dependence development in these therapeutic remissions is also taken into consideration.

  4. [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.

  5. 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...

  6. Epilepsie und Schwangerschaft

    Directory of Open Access Journals (Sweden)

    Luef G

    2009-01-01

    Full Text Available Epilepsien sind eine der häufigsten neurologischen Erkrankungen und umfassen eine Vielzahl von heterogenen Erkrankungen, welche epileptische Anfälle als gemeinsames Symptom besitzen. Schwangerschaften epilepsiekranker Frauen beschäftigen Neurologen und Gynäkologen gleich häufig, da sowohl epileptische Anfälle mit tonisch-klonischen Krämpfen, als auch deren medikamentöse Therapie teratogen sein können. Über 90 % der Schwangerschaften epilepsiekranker Frauen verlaufen weitgehend problemlos. Auch die Anfallsfrequenz ist nur bei sehr wenigen Patientinnen gesteigert. Trotzdem ist es wichtig, dass im speziellen Fall schwangerer Epilepsiepatientinnen verschiedene Fachkräfte zusammenarbeiten. Eine Epilepsie stellt also in der Regel keinen Grund dar, auf Kinder zu verzichten.

  7. Steroids in childhood epilepsy

    Directory of Open Access Journals (Sweden)

    Ramachandrannair Rajesh

    2006-01-01

    Full Text Available Treatment of epileptic encephalopathies can be very challenging as most anticonvulsant drugs fail to achieve good seizure control. Steroids are disease modifying as well as anticonvulsant in these conditions. Though steroids are accepted as the first-line treatment for infantile spasms, there are many unanswered questions with regard to the preparation, dose and duration of treatment. In this review a re-exploration of the literature is attempted. Putative mechanism of action of steroids in infantile spasms is also discussed. As steroids are being increasingly used in other epileptic encephalopathies and Rasmussen′s encephalitis, a brief discussion on the role of steroids in these conditions is attempted. The review ends with the discussion on newer neuroactive steroids in the management of epilepsy.

  8. Women'S issues and epilepsy.

    Science.gov (United States)

    Noe, Katherine H; Pack, Alison M

    2010-06-01

    Women with epilepsy (WWE) may experience changes in seizure control related to alterations in neuronal excitability mediated by estrogen and progesterone. A third or more of women will reliably note seizures that are linked to menstruation or ovulation. Reproductive hormone-related exacerbation of seizure control is also observed during perimenopause. Seizures and antiepileptic drugs (AEDs) also can adversely affect reproductive health. WWE have higher than expected rates of menstrual disorders and infertility. Enzyme-inducing AEDs interact with hormonal contraceptives, potentially limiting options for birth control. Exposure to AEDs during pregnancy increases the risk of congenital malformations and cognitive impairments in children born to WWE. Chronic AED use increases the risk of vitamin D deficiency, decreased bone quality and density, and fractures. These concerns heighten the need to taper AEDs when appropriate and to manage WWE on the simplest AED regimen that will maintain seizure freedom.

  9. [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.

  10. 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

  11. The Managing Epilepsy Well Network:: Advancing Epilepsy Self-Management.

    Science.gov (United States)

    Sajatovic, Martha; Jobst, Barbara C; Shegog, Ross; Bamps, Yvan A; Begley, Charles E; Fraser, Robert T; Johnson, Erica K; Pandey, Dilip K; Quarells, Rakale C; Scal, Peter; Spruill, Tanya M; Thompson, Nancy J; Kobau, Rosemarie

    2017-03-01

    Epilepsy, a complex spectrum of disorders, affects about 2.9 million people in the U.S. Similar to other chronic disorders, people with epilepsy face challenges related to management of the disorder, its treatment, co-occurring depression, disability, social disadvantages, and stigma. Two national conferences on public health and epilepsy (1997, 2003) and a 2012 IOM report on the public health dimensions of epilepsy highlighted important knowledge gaps and emphasized the need for evidence-based, scalable epilepsy self-management programs. The Centers for Disease Control and Prevention translated recommendations on self-management research and dissemination into an applied research program through the Prevention Research Centers Managing Epilepsy Well (MEW) Network. MEW Network objectives are to advance epilepsy self-management research by developing effective interventions that can be broadly disseminated for use in people's homes, healthcare providers' offices, or in community settings. The aim of this report is to provide an update on the MEW Network research pipeline, which spans efficacy, effectiveness, and dissemination. Many of the interventions use e-health strategies to eliminate barriers to care (e.g., lack of transportation, functional limitations, and stigma). Strengths of this mature research network are the culture of collaboration, community-based partnerships, e-health methods, and its portfolio of prevention activities, which range from efficacy studies engaging hard-to-reach groups, to initiatives focused on provider training and knowledge translation. The MEW Network works with organizations across the country to expand its capacity, help leverage funding and other resources, and enhance the development, dissemination, and sustainability of MEW Network programs and tools. Guided by national initiatives targeting chronic disease or epilepsy burden since 2007, the MEW Network has been responsible for more than 43 scientific journal articles, two

  12. 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.

  13. Gastaut type idiopathic occipital epilepsy

    Directory of Open Access Journals (Sweden)

    I. V. Volkov

    2015-01-01

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

  14. Myoclonus in patient on fluoxetine after receiving fentanyl and low-dose methylene blue during sentinel lymph node biopsy.

    Science.gov (United States)

    Larson, Kelly J; Wittwer, Erica D; Nicholson, Wayne T; Weingarten, Toby N; Price, Daniel L; Sprung, Juraj

    2015-05-01

    Serotonin released in the nerve synapses is cleared through reuptake into presynaptic neurons and metabolism with monoamine oxidase (MAO). Therapy with selective serotonin reuptake inhibitors (SSRIs) or MAO inhibitors increases serotonin concentration in the synaptic cleft and may result in serotonin syndrome (SS). Our patient undergoing sentinel lymph node biopsy was on fluoxetine (SSRI) and intraoperatively developed SS after receiving fentanyl (200 μg) and methylene blue (MAO inhibitor), 7 mg subcutaneously into the scalp. Initial presentation was several episodes of generalized muscle activity, which was later diagnosed as lower extremity myoclonus consistent with SS. Upon awakening, the patient showed no evidence of encephalopathy, and the clonus was less intense. The patient was discharge home the next day. Our case suggests the possibility that even a small dose of methylene blue, when administered simultaneously with other serotoninergic medications, may be associated with serotonin toxicity.

  15. Autoantibody-mediated cytotoxicity in paediatric opsoclonus-myoclonus syndrome is dependent on ERK-1/2 phophorylation.

    Science.gov (United States)

    Fühlhuber, Verena; Bick, Sandra; Tschernatsch, Marlene; Dharmalingam, Backialakshmi; Kaps, Manfred; Preissner, Klaus T; Blaes, Franz

    2015-12-15

    Paediatric opsoclonus-myoclonus syndrome (OMS) is in 50% of the cases associated with a neuroblastoma as a paraneoplastic syndrome and is associated with surface-binding antibodies against cerebellar granular neurons (CGN). To evaluate possible pathogenic effects of these autoantibodies on CGN we examined their influence on the MAPKinase enzymes ERK-1/2 and p38 using flow cytometry and phospho-specific antibodies. OMS IgG but not IgG from neuroblastoma without OMS or healthy controls induced phosphorylation of ERK-1/2 in cerebellar granular neurons (pERK-1/2 was associated with an increased cytotoxicity of CGN, which could be blocked by ERK-1/2 pathway inhibitor U0126. We here show that IgG-mediated anti-neuronal cytotoxicity in OMS is mediated by ERK-1/2 phosphorylation in CGN.

  16. Increased prevalence of autoimmune disorders and autoantibodies in parents of children with opsoclonus-myoclonus syndrome (OMS).

    Science.gov (United States)

    Krasenbrink, I; Fühlhuber, V; Juhasz-Boess, I; Stolz, E; Hahn, A; Kaps, M; Hero, B; Blaes, F

    2007-06-01

    Opsoclonus-myoclonus syndrome (OMS) is a rare neurological disease in childhood which can be associated with neuroblastoma. Since autoantibodies have been detected in some patients with OMS, an autoimmune etiology is suspected. We compared the prevalence of autoimmune disorders and autoantibodies in parents of children with OMS and in a group of controls of same age and sex. Autoimmune diseases were found in 15.8% of the parents of OMS children, but only in 2.0% of the controls (pOMS parents (42.8% vs. 8.0%, pOMS parents also had significantly more autoantibodies against CNS structures than the controls (pOMS and may also hint to a genetic susceptibility for OMS.

  17. Clinical Analysis of 7 Patients with Progressive Myoclonus Epilepsies%进行性肌阵挛癫癎7例临床分析

    Institute of Scientific and Technical Information of China (English)

    王立瑶; 孙锋; 周祥琴

    2006-01-01

    目的:分析进行性肌阵挛癫癎(PME)的临床特点.方法:回顾性分析7例PME患者病案.结果:①PME于童年或青少年起病.②随病情进展所有患者均有不同程度的智能减退.③癫癎发作形式:全身性、局灶性或节段性的肌阵挛,无规律、不同步、不对称的;通常合并全身强直-阵挛发作或部分性发作.④有小脑、锥体束等神经系统受累症状.结论:PME主要临床表现除癫癎、肌阵挛和进行性神经功能衰退外,视觉发作也是比较明显的症状,脑电图检查是必不可少的.对某些患者及亲属进行乳酸运动试验有助于本病中线粒体病(MERRF)型的诊断.

  18. Orthostatic Tremor and Orthostatic Myoclonus: Weight-bearing Hyperkinetic Disorders: A Systematic Review, New Insights, and Unresolved Questions

    Science.gov (United States)

    Hassan, Anhar; van Gerpen, Jay A.

    2016-01-01

    Background Orthostatic tremor (OT) and orthostatic myoclonus (OM) are weight-bearing hyperkinetic movement disorders most commonly affecting older people that induce “shaky legs” upon standing. OT is divided into “classical” and “slow” forms based on tremor frequency. In this paper, the first joint review of OT and OM, we review the literature and compare and contrast their demographic, clinical, electrophysiological, neuroimaging, pathophysiological, and treatment characteristics. Methods A PubMed search up to July 2016 using the phrases “orthostatic tremor,” “orthostatic myoclonus,” “shaky legs,” and “shaky legs syndrome” was performed. Results OT and OM should be suspected in older patients reporting unsteadiness with prolonged standing and/or who exhibit cautious, wide-based gaits. Surface electromyography (SEMG) is necessary to verify the diagnoses. Functional neuroimaging and electrophysiology suggest the generator of classical OT lies within the cerebellothalamocortical network. For OM, and possibly slow OT, the frontal, subcortical cerebrum is the most likely origin. Clonazepam is the most useful medication for classical OT, and levetiracetam for OM, although results are often disappointing. Deep brain stimulation appears promising for classical OT. Rolling walkers reliably improve gait affected by these disorders, as both OT and OM attenuate when weight is transferred from the legs to the arms. Discussion Orthostatic hyperkinesias are likely underdiagnosed, as SEMG is often unavailable in clinical practice, and thus may be more frequent than currently recognized. The shared weight-bearing induction of OT and OM may indicate a common pathophysiology. Further research, including use of animal models, is necessary to better define the prevalence and pathophysiology of OT and OM, in order to improve their treatment, and provide additional insights into basic balance and gait mechanisms.

  19. Are Absence Epilepsy and Nocturnal Frontal Lobe Epilepsy System Epilepsies of the Sleep/Wake System?

    Science.gov (United States)

    Halász, Péter

    2015-01-01

    System epilepsy is an emerging concept interpreting major nonlesional epilepsies as epileptic dysfunctions of physiological systems. I extend here the concept of reflex epilepsy to epilepsies linked to input dependent physiological systems. Experimental and clinical reseach data were collected to create a coherent explanation of underlying pathomechanism in AE and NFLE. We propose that AE should be interpreted as epilepsy linked to the corticothalamic burst-firing mode of NREM sleep, released by evoked vigilance level oscillations characterized by reactive slow wave response. In the genetic variation of NFLE the ascending cholinergic arousal system plays an essential role being in strong relationship with a gain mutation of the nicotinic acethylcholin receptors, rendering the arousal system hyperexcitable. I try to provide a more unitary interpretation for the variable seizure manifestation integrating them as different degree of pathological arosuals and alarm reactions. As a supporting hypothesis the similarity between arousal parasomnias and FNLE is shown, underpinned by overlaping pathomechanism and shared familiarity, but without epileptic features. Lastly we propose that both AE and NFLE are system epilepsies of the sleep-wake system representing epileptic disorders of the antagonistic sleep/arousal network. This interpretation may throw new light on the pathomechanism of AE and NFLE. PMID:26175547

  20. Parenting and restrictions in childhood epilepsy

    NARCIS (Netherlands)

    Rodenburg, R.; Meijer, A.M.; Scherphof, C.; Carpay, J.A.; Augustijn, P.; Aldenkamp, A.P.; Deković, M.

    2013-01-01

    Purpose: From the overprotection literature, the predictive and interactional (moderation) effects of controlling and indulgent parenting on restrictions in children with epilepsy were examined. Methods: Parents of 73 children with epilepsy completed questionnaires on parenting, restrictions, and

  1. Epilepsy - what to ask your doctor - adult

    Science.gov (United States)

    What to ask your doctor about epilepsy - adult; Seizures - what to ask your doctor - adult; Seizure - what to ask your doctor ... call to find more information about driving and epilepsy? What should I discuss with my boss at ...

  2. Comorbidities associated with epilepsy and headaches

    Directory of Open Access Journals (Sweden)

    Thalles P. Ferreira

    2012-04-01

    Full Text Available Comorbidities are often associated with chronic neurological diseases, such as headache and epilepsy. OBJECTIVES: To identify comorbidities associated with epilepsy and headaches, and to determine possible drug interactions. METHODS: A standardized questionnaire with information about type of epilepsy/headache, medical history, and medication was administered to 80 adult subjects (40 with epilepsy and 40 with chronic headache. RESULTS: Patients with epilepsy had an average of two comorbidities and those with headache of three. For both groups, hypertension was the most prevalent. On average, patients with epilepsy were taking two antiepileptic medications and those with headache were taking only one prophylactic medication. Regarding concomitant medications, patients with epilepsy were in use, on average, of one drug and patients with headache of two. CONCLUSIONS: Patients with chronic neurological diseases, such as epilepsy and headaches, have a high number of comorbidities and they use many medications. This may contribute to poor adherence and interactions between different medications.

  3. Vagus Nerve Stimulation for Treating Epilepsy

    Science.gov (United States)

    ... Evidence-based Guideline for PATIENTS and their FAMILIES VAGUS NERVE STIMULATION FOR TREATING EPILEPSY This information sheet is provided to help you understand how vagus nerve stimulation (VNS) may help treat epilepsy. The American ...

  4. Pragmatic communication deficits in children with epilepsy

    NARCIS (Netherlands)

    Broeders, Mark; Geurts, Hilde; Jennekens-Schinkel, Aag

    2010-01-01

    Background: Various psychiatric and neurological disorders including epilepsy have been associated with language deficits. Pragmatic language deficits, however, have seldom been the focus of earlier studies in children with epilepsy. Moreover, it is unknown whether these pragmatic deficits are relat

  5. Behavioral problems in children with epilepsy

    Directory of Open Access Journals (Sweden)

    Dora Novriska

    2014-11-01

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

  6. Comorbidity headache and epilepsy in childhood

    OpenAIRE

    Yamane, LE; Montenegro, MA; Guerreiro,MM

    2004-01-01

    Rationale: 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. Methods: This was a prospective study conducted at the pediatric epilepsy clinic of our university hospital. Fifty children with epilepsy and ability to desc...

  7. Introduction-Pediatric epilepsy surgery techniques.

    Science.gov (United States)

    Rydenhag, Bertil; Cukiert, Arthur

    2017-04-01

    This supplement includes the proceedings from the Pediatric Epilepsy Surgery Techniques Meeting held in Gothenburg (July 4-5, 2014), which focused on presentations and discussions regarding specific surgical technical issues in pediatric epilepsy surgery. Pediatric epilepsy neurosurgeons from all over the world were present and active in very fruitful and live presentations and discussions. These articles represent a synopsis of the areas and subjects dealt with there. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  8. PET studies in epilepsy.

    Science.gov (United States)

    Sarikaya, Ismet

    2015-01-01

    Various PET studies, such as measurements of glucose, serotonin and oxygen metabolism, cerebral blood flow and receptor bindings are availabe for epilepsy. (18)Fluoro-2-deoxyglucose ((18)F-FDG) PET imaging of brain glucose metabolism is a well established and widely available technique. Studies have demonstrated that the sensitivity of interictal FDG-PET is higher than interictal SPECT and similar to ictal SPECT for the lateralization and localization of epileptogenic foci in presurgical patients refractory to medical treatments who have noncontributory EEG and MRI. In addition to localizing epileptogenic focus, FDG-PET provide additional important information on the functional status of the rest of the brain. The main limitation of interictal FDG-PET is that it cannot precisely define the surgical margin as the area of hypometabolism usually extends beyond the epileptogenic zone. Various neurotransmitters (GABA, glutamate, opiates, serotonin, dopamine, acethylcholine, and adenosine) and receptor subtypes are involved in epilepsy. PET receptor imaging studies performed in limited centers help to understand the role of neurotransmitters in epileptogenesis, identify epileptic foci and investigate new treatment approaches. PET receptor imaging studies have demonstrated reduced (11)C-flumazenil (GABAA-cBDZ) and (18)F-MPPF (5-HT1A serotonin) and increased (11)C-cerfentanil (mu opiate) and (11)C-MeNTI (delta opiate) bindings in the area of seizure. (11)C-flumazenil has been reported to be more sensitive than FDG-PET for identifying epileptic foci. The area of abnormality on GABAAcBDZ and opiate receptor images is usually smaller and more circumscribed than the area of hypometabolism on FDG images. Studies have demonstrated that (11)C-alpha-methyl-L-tryptophan PET (to study synthesis of serotonin) can detect the epileptic focus within malformations of cortical development and helps in differentiating epileptogenic from non-epileptogenic tubers in patients with tuberous

  9. CLINICAL, NEUROPSYCHOLOGICAL AND NEUROPHYSIOLOGICAL CORRELATES OF DRUG RESISTANT JUVENILE MYOCLONIC EPILEPSY

    Directory of Open Access Journals (Sweden)

    Davis

    2015-09-01

    Full Text Available This study was designed to find the clinical, neuropsychologic, EEG and TMS (Transcranial Magnetic Stimulation characteristics of patients with treatment resistant Juvenile Myoclonic Epilepsy (JME. JME diagnosis was according to the criteria defined by Classification and Terminology Commission of the International League Against Epilepsy. For the purpose of this study, ‘treatment resistance’ was defined as having two or more generalized tonic - clonic sei zures (GTCS or disabling myoclonus resulting in falls, while on optimal dose of a first - line anti - epileptic drug for JME, with proper compliance. All the patients with JME presenting during the study period underwent detailed clinical and EEG evaluation. Hospital Anxiety and Depression score (HADS was used to screen for anxiety and depression. Single and paired pulse (TMS parameters were used to measure cortical excitability. We identified 190 patients with JME during the study period, of which 30 (15.8% were diagnosed as having treatment resistance JME. Patients with drug resistant JME were found to have statistically significant markers in the form of - later age of onset of myoclonic jerks, absence of typical early morning myoclonia, higher scores for depression and anxiety, low IQ scores and persistent EEG abnormalities while on treatment. Frequency of GTCS showed inverse correlation with IQ scores and direct correlation to the anxiety/depression scores. These patients also had paradoxically decreased cortical excitability, probably related to the high antiepileptic drug doses they were taking. We conclude that treatment resistance in JME is not very rare and that such patients form a distinct subtype with certain atypical clinical and electrophysiolog ical characteristics, with a higher risk of developing anxiety and depression

  10. 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...

  11. International veterinary epilepsy task force consensus proposal

    DEFF Research Database (Denmark)

    De Risio, Luisa; Bhatti, Sofie; Muñana, Karen

    2015-01-01

    This article outlines the consensus proposal on diagnosis of epilepsy in dogs by the International Veterinary Epilepsy Task Force. The aim of this consensus proposal is to improve consistency in the diagnosis of epilepsy in the clinical and research settings. The diagnostic approach to the patient...

  12. Epilepsy. NICHCY Disability Fact Sheet #6

    Science.gov (United States)

    National Dissemination Center for Children with Disabilities, 2010

    2010-01-01

    Epilepsy is a seizure disorder. According to the Epilepsy Foundation of America, a seizure happens when a brief, strong surge of electrical activity affects part or all of the brain. About three million Americans have epilepsy. Of the 200,000 new cases diagnosed each year, nearly 45,000 are children and adolescents. Following a brief story of a…

  13. Determinants of treatment outcomes in epilepsy

    NARCIS (Netherlands)

    Wassenaar, M.

    2014-01-01

    Epilepsy is a serious chronic brain disorder characterized by seizures. Worldwide over 50 million people suffer from epilepsy. The impact of epilepsy on a person’s daily life can be substantial and may, apart from the seizures themselves, include psycho-social consequences such as feelings of fear,

  14. Epilepsy surgery: Recommendations for India

    Directory of Open Access Journals (Sweden)

    Chandra P

    2010-01-01

    Full Text Available The following article recommends guidelines for epilepsy surgery for India. This article reviews the indications, the various surgical options available and the outcome of surgery for drug resistant epilepsy based on current evidence. Epilepsy surgery is a well-established option for patients who have been diagnosed to have drug resistant epilepsy (DRE (on at least two appropriate, adequate anti-epileptic drugs (AEDs (either in monotherapy or in combination with continuing seizures, where the presurgical work-up has shown concordance of structural imaging (magnetic resonance imaging and electrical mapping data (electroencephalography (EEG, video EEG. There may be a requirement of functional imaging techniques in a certain number of DRE like positron emission tomography (PET, single photon emission tomography, (SPECT. Invasive monitoring should be restricted to a few when all noninvasive investigations are inconclusive, there is a dual pathology or there is a discordance of noninvasive data. The types of surgery could be curative (resective surgeries: amygdalo hippocampectomy, lesionectomy and multilobar resections; functional surgeries: hemispherotomy and palliative (multiple subpial transaction, corpus callosotomy, vagal nerve stimulation. Epilepsy surgery in indicated cases has a success range from 50 to 86% in achieving seizure freedom as compared with < 5% success rate with AEDs only in persons with DRE. Centers performing surgery should be categorized into Level I and Level II.

  15. Epilepsy and the new cytogenetics.

    Science.gov (United States)

    Mulley, John C; Mefford, Heather C

    2011-03-01

    We set out to review the extent to which molecular karyotyping has overtaken conventional cytogenetics in applications related to epilepsy. Multiplex ligase-dependent probe amplification (MLPA) targeted to predetermined regions such as SCN1A and KCNQ2 has been effectively applied over the last half a decade, and oligonucleotide array comparative genome hybridization (array CGH) is now well established for genome-wide exploration of microchromosomal variation. Array CGH is applicable to the characterization of lesions present in both sporadic and familial epilepsy, especially where clinical features of affected cases depart from established syndromes. Copy number variants (CNVs) associated with epilepsy and a range of other syndromes and conditions can be recurrent due to nonallelic homologous recombination in regions of segmental duplication. The most common of the recurrent microdeletions associated with generalized epilepsy are typically seen at a frequency of ∼ 1% at 15q13.3, 16p13.11, and 15q11.2, sites that also confer susceptibility for intellectual disability, autism, and schizophrenia. Incomplete penetrance and variable expressivity confound the established rules of cytogenetics for determining the pathogenicity for novel CNVs; however, as knowledge is gained for each of the recurrent CNVs, this is translated to genetic counseling. CNVs play a significant role in the susceptibility profile for epilepsies, with complex genetics and their comorbidities both from the "hotspots" defined by segmental duplication and elsewhere in the genome where their location and size are often novel.

  16. Duchenne muscular dystrophy and epilepsy.

    Science.gov (United States)

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

    2013-04-01

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

  17. 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.

  18. 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.

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

    Science.gov (United States)

    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.

  20. Toxoplasma gondii and Epilepsy.

    Science.gov (United States)

    Ayaz, Erol; Türkoğlu, Şule Aydın; Orallar, Hayriye

    2016-06-01

    Toxoplasma gondii is a zoonotic parasite can be seen in all the vital organ; in the acute phase, it can be found in the blood, cerebrospinal fluid, semen, tears, saliva, urine, and in almost all body fluids. Transplasental infection can lead to fetal damage and miscarriage. Its last hosts are felines and intermediate hosts are all mammals, including humans. People infected by the ingestion of meat containing cysts in undercooked or raw, are thrown oocysts with cat felines By taking in water and food, from mother to fetus transplacental way, the infected organ transplantation, blood transfusion, laboratory accidents and kaprofaj transmitted by mechanical vectors of the invertebrates. Suppression of the immune system is being transformed to the shape and texture of the cysts with bradyzoite. The parasite settles in the cells of the tissue cysts and causes change in the cellular mechanisms, such as cytokinin task. Depending on changes and type of neurotransmitter (GABA, glutamate, serotonin, dopamine) levels in CSF in ions (Ca, K, Cl, Mg), it is believed that there is a change in their concentration. In this review, literature about the relationship between T. gondii and epilepsy and epileptiform activity the importance of parasites, which settle in the brain, will be highlighted.

  1. 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.

  2. Epilepsy and metaphors in literature.

    Science.gov (United States)

    Wolf, Peter

    2016-04-01

    This topic has two different aspects: seizures and epilepsy used as metaphors and seizures described in metaphors. Whereas some metaphors are unique and have high literary value, others can be categorized in prototypical groups. These include sexual metaphors; metaphors of strong emotions, of life crises and breakdown, and also of exultation; religious metaphors; and metaphors of weakness which mostly belong to older literature. Writers with epilepsy, in their literary texts, rarely talk about seizures in metaphors. Authors who do this sometimes seem to use reports that they have received from afflicted persons. The most common metaphors for seizures belong to the realms of dreams and of strong sensory impressions (visual, auditory). More rarely, storm and whirlwind are used as literary metaphors for seizures. This article is part of a Special Issue entitled "Epilepsy, Art, and Creativity".

  3. Fever, febrile seizures and epilepsy.

    Science.gov (United States)

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

    2007-10-01

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

  4. [Possibilities of psychoprophylaxis in epilepsy].

    Science.gov (United States)

    Bilikiewicz, A

    1976-01-01

    The psychiatrist should be given also their share in the prevetion of epilepsy by means of raising the psychiatric culture of the society and teaching the population the principles of mental hygiene and psychoprophylaxia. The possibilities of psychiatry in prophylactic management of patients with developed epilepsy include: 1. Energetic measures for controlling attacks which has many psychoprophylactic aspects. 2. Prevention of psychotraumatizing situations leading to secondary neurotic, psychotic and other reactions and behaviour disorders of the type of homilopathy and sociopathy, 3. Counteracting the development of mental and social disability in epileptics. Treatment of epilepsy should be conducted from its very beginning in cooperation with psychiatrists and therapeutic psychologists. The probems of prophylaxis cannot be separated from prophylactic treatment, psychotherapy sociotherapy and rehabilitation.

  5. Alternative approaches to epilepsy treatment.

    Science.gov (United States)

    McElroy-Cox, Caitlin

    2009-07-01

    Complementary and alternative medicine (CAM) is a diverse group of health care practices and products that fall outside the realm of traditional Western medical theory and practice and that are used to complement or replace conventional medical therapies. The use of CAM has increased over the past two decades, and surveys have shown that up to 44% of patients with epilepsy are using some form of CAM treatment. This article reviews the CAM modalities of meditation, yoga, relaxation techniques, biofeedback, nutritional and herbal supplements, dietary measures, chiropractic care, acupuncture, Reiki, and homeopathy and what is known about their potential efficacy in patients with epilepsy.

  6. [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.

  7. 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...

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

    Science.gov (United States)

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

    2014-08-01

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

  9. Charles Dickens (1812-1870) and epilepsy.

    Science.gov (United States)

    Larner, A J

    2012-08-01

    To coincide with the bicentenary of the birth of Charles Dickens (1812-1870), accounts of epilepsy found in his novels and journalism have been collated and analyzed. From these, it may be inferred that Dickens was clearly aware of the difference between epilepsy and syncope and recognized different types of epilepsy and that seizures could be fatal. Speculations that Dickens himself suffered from epilepsy are not corroborated. Dickens's novelistic construction of epilepsy as a marker of criminality, as in the characters of Monks in Oliver Twist and Bradley Headstone in Our Mutual Friend, and perhaps of mental abnormality, was in keeping with conventional contemporary views of epilepsy, but his journalistic descriptions of individuals with epilepsy confined in the workhouse system indicate an awareness of the inadequacy of their care. Copyright © 2012 Elsevier Inc. All rights reserved.

  10. Migraine and epilepsy in the pediatric population.

    Science.gov (United States)

    Oakley, Christopher B; Kossoff, Eric H

    2014-03-01

    Individually, childhood epilepsy and migraine are two of the most common conditions seen in pediatric neurology. What complicates matters is that there can be marked similarities between migraine and epilepsy as well as a variety of underlying conditions that predispose children to both seizures and headache. Thus, separating epilepsy from migraine may not be easy, but can be done with a detailed history as well as timely use of ancillary testing. Once children have been diagnosed with epilepsy, migraine, or both, treatment options become essential in attempts to manage these common, yet often disabling, neurological conditions. Acute interventions tend to be condition specific while preventative options may overlap for migraine and epilepsy. In the following review, we will discuss the epidemiology of childhood epilepsy and headache, the association between them, as well as how to differentiate epilepsy from migraine. Treatment strategies will follow before concluding with a discussion on prognosis.

  11. Psychodiagnostische problemen van de epilepsie/ Psychodiagnostic problems of epilepsy

    NARCIS (Netherlands)

    Boeke, Pieter Elisa

    1962-01-01

    Het begrip epilepsie wordt aan een analyse onderworpen als datgene, of die diagnose, waarover aan de hand van de resultaten van de Bourdon een uitspraak moet worden gedaan. De geschiedenis van de Bourdon en de onderzoekingen met en over deze test worden geschetst, waarna een overzicht volgt van onze

  12. Epilepsy Care in Ontario: An Economic Analysis of Increasing Access to Epilepsy Surgery

    Science.gov (United States)

    Bowen, James M.; Snead, O. Carter; Chandra, Kiran; Blackhouse, Gord; Goeree, Ron

    2012-01-01

    Background In August 2011 a proposed epilepsy care model was presented to the Ontario Health Technology Advisory Committee (OHTAC) by an Expert Panel on a Provincial Strategy for Epilepsy Care in Ontario. The Expert Panel recommended leveraging existing infrastructure in the province to provide enhanced capacity for epilepsy care. The point of entry for epilepsy care and the diagnostic evaluation for surgery candidacy and the epilepsy surgery would occur at regional and district epilepsy centres in London, Hamilton, Toronto, and Ottawa and at new centres recommended for northern and eastern Ontario. This economic analysis report was requested by OHTAC to provide information about the estimated budgetary impact on the Ontario health care system of increasing access to epilepsy surgery and to examine the cost-effectiveness of epilepsy surgery in both children and adults. Methods A prevalence-based “top-down” health care system budgetary impact model from the perspective of the Ministry of Health and Long-Term Care was developed to estimate the potential costs associated with expanding health care services to increase access to epilepsy care in general and epilepsy surgery in particular. A 5-year period (i.e., 2012–2016) was used to project annual costs associated with incremental epilepsy care services. Ontario Health Survey estimates of epilepsy prevalence, published epilepsy incidence data, and Canadian Census results for Ontario were used to approximate the number of individuals with epilepsy in the province. Applying these population estimates to data obtained from a recent field evaluation study that examined patterns of care and costs associated with epilepsy surgery in children, a health care system budget impact was calculated and the total costs and incremental costs associated with increasing access to surgery was estimated. In order to examine the cost-effectiveness of epilepsy surgery in children, a decision analysis compared epilepsy surgery to

  13. Juvenile myoclonic epilepsy Epilepsia mioclônica juvenil

    Directory of Open Access Journals (Sweden)

    Isabel Alfradique

    2007-12-01

    Full Text Available Juvenile myoclonus epilepsy (JME is a common epileptic syndrome, the etiology of which is genetically determined. Its onset occurs from 6 through 22 years of age, and affected patients present with myoclonic jerks, often associated with generalized tonic-clonic seizures - the most common association - and absence seizures. JME is non-progressive, and there are no abnormalities on clinical examination or intellectual deficits. Psychiatric disorders may coexist. Generalized polyspike-and-waves are the most characteristic electroencephalographic pattern. Usual neuroimaging studies show no abnormalities. Atypical presentations should be entertained, as they are likely to induce misdiagnosis. Prevention of precipitating factors and therapy with valproic acid (VPA are able to control seizures in the great majority of patients. Whenever VPA is judged to be inappropriate, other antiepileptic drugs such as lamotrigine may be considered. Treatment should not be withdrawn, otherwise recurrences are frequent.A epilepsia mioclônica juvenil é uma síndrome epiléptica comum, cuja etiologia é fundamentada na genética. Inicia-se entre 6 e 22 anos e os indivíduos apresentam mioclonias, que podem ser acompanhadas por crises tônico-clônicas generalizadas - associação mais comum - e crises de ausência. A doença não é progressiva, e não há alterações detectáveis no exame físico ou déficits intelectuais. Distúrbios psiquiátricos podem coexistir. Polipontas-ondas lentas generalizadas constituem o padrão eletrencefalográfico ictal típico. Não há anormalidades em exames de imagem convencionais. Apresentações atípicas devem ser consideradas, pois predispõem a erros de diagnóstico. A prevenção de fatores desencadeantes e o uso de ácido valpróico (VPA controlam as crises epilépticas na grande maioria dos casos. Quando o VPA é inapropriado, outras drogas como a lamotrigina podem ser utilizadas. O tratamento não deve ser interrompido

  14. [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.

  15. Stress, the hippocampus, and epilepsy

    NARCIS (Netherlands)

    Joëls, M.

    2009-01-01

    Stress is among the most frequently self-reported precipitants of seizures in patients with epilepsy. This review considers how important stress mediators like corticotropin-releasing hormone, corticosteroids, and neurosteroids could contribute to this phenomenon. Cellular effects of stress mediator

  16. Sleep Disorders, Epilepsy, and Autism

    Science.gov (United States)

    Malow, Beth A.

    2004-01-01

    The purpose of this review article is to describe the clinical data linking autism with sleep and epilepsy and to discuss the impact of treating sleep disorders in children with autism either with or without coexisting epileptic seizures. Studies are presented to support the view that sleep is abnormal in individuals with autistic spectrum…

  17. ECG changes in epilepsy patients

    DEFF Research Database (Denmark)

    Tigaran, S; Rasmussen, V; Dam, M

    1997-01-01

    To investigate the frequency of ECG abnormalities suggestive of myocardial ischaemia in patients with severe drug resistant epilepsy and without any indication of previous cardiac disease, assuming that these changes may be of significance for the group of epileptic patients with sudden unexpected...

  18. Yoga for control of epilepsy.

    Science.gov (United States)

    Yardi, N

    2001-01-01

    Yoga is an age-old traditional Indian psycho-philosophical-cultural method of leading one's life, that alleviates stress, induces relaxation and provides multiple health benefits to the person following its system. It is a method of controlling the mind through the union of an individual's dormant energy with the universal energy. Commonly practiced yoga methods are 'Pranayama' (controlled deep breathing), 'Asanas' (physical postures) and 'Dhyana' (meditation) admixed in varying proportions with differing philosophic ideas. A review of yoga in relation to epilepsy encompasses not only seizure control but also many factors dealing with overall quality-of-life issues (QOL). This paper reviews articles related to yoga and epilepsy, seizures, EEG, autonomic changes, neuro-psychology, limbic system, arousal, sleep, brain plasticity, motor performance, brain imaging studies, and rehabilitation. There is a dearth of randomized, blinded, controlled studies related to yoga and seizure control. A multi-centre, cross-cultural, preferably blinded (difficult for yoga), well-randomized controlled trial, especially using a single yogic technique in a homogeneous population such as Juvenile myoclonic epilepsy is justified to find out how yoga affects seizure control and QOL of the person with epilepsy. Copyright 2001 BEA Trading Ltd.

  19. 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.

  20. Encephalopathy with upper body hypertonia and myoclonus in patient with systemic lupus erythematosus and anti-CASPR2.

    Science.gov (United States)

    Castro, A; Romeu, J C; Geraldes, R; Pereira da Silva, J A

    2017-01-01

    Systemic lupus erythematosus (SLE) may involve the nervous system but there are no specific biomarkers of neuroSLE. Limbic encephalitis has been rarely associated with SLE. We present a case of a 22-year-old black woman where typical SLE psychosis evolved to an encephalopathy with atypical features, normal MRI, electroencephalogram slowing and frontal and occipito-temporal hypometabolism on fluorodeoxyglucose positron emission tomography (FDG PET).Memory deficits, bizarre behaviour, psychosis, neuromyotonia and movement disorders have been described in autoimmune central nervous system disorders and associated with specific antibodies. Brain MRI may be normal and cortical brain hypometabolism on FDG PET scans has been reported. We have not found any report of limbic encephalitis or other SLE neurological manifestation associated to positive titres of anti-CASPR2 antibodies and this may warrant systematic investigation. In the rare cases of limbic encephalitis associated with SLE no specific antibodies were documented. Anti-CASPR2 antibodies have been associated not only with limbic encephalitis but also with neuromyotonia and Morvan syndrome. Although our patient had a specific pattern of tone abnormalities with an impressive cervical and upper limb hypertonicity and flaccid lower limbs, no myotonic discharges were found. We did not find any association between myoclonus and anti-CASPR2 antibodies. We cannot exclude that a non determined autoantibody could have played a role; however, clinical and FDG PET improvement supports an antibody-mediated injury, in this case of neuroSLE.

  1. Genetics Home Reference: pyridoxal 5'-phosphate-dependent epilepsy

    Science.gov (United States)

    ... 5'-phosphate-dependent epilepsy pyridoxal 5'-phosphate-dependent epilepsy Enable Javascript to view the expand/collapse boxes. ... All Close All Description Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures beginning soon ...

  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. Genetics Home Reference: genetic epilepsy with febrile seizures plus

    Science.gov (United States)

    ... Health Conditions genetic epilepsy with febrile seizures plus genetic epilepsy with febrile seizures plus Printable PDF Open ... Javascript to view the expand/collapse boxes. Description Genetic epilepsy with febrile seizures plus (GEFS+) is a ...

  4. Endoscopic epilepsy surgery: Emergence of a new procedure

    Directory of Open Access Journals (Sweden)

    Sarat P Chandra

    2015-01-01

    Conclusion: The article emphasizes the role of endoscopic procedures for epilepsy surgery and provides a review of literature. This experience may subserve to coin the term "endoscopic epilepsy surgery" for a fast emerging subspeciality in the field of epilepsy surgery.

  5. Epilepsy, cognition, and neuropsychiatry (Epilepsy, Brain, and Mind, part 2)

    Science.gov (United States)

    Korczyn, Amos D.; Schachter, Steven C.; Brodie, Martin J.; Dalal, Sarang S.; Engel, Jerome; Guekht, Alla; Hecimovic, Hrvoje; Jerbi, Karim; Kanner, Andres M.; Landmark, Cecilie Johannessen; Mares, Pavel; Marusic, Petr; Meletti, Stefano; Mula, Marco; Patsalos, Philip N.; Reuber, Markus; Ryvlin, Philippe; Štillová, Klára; Tuchman, Roberto; Rektor, Ivan

    2016-01-01

    Epilepsy is, of course, not one disease but rather a huge number of disorders that can present with seizures. In common, they all reflect brain dysfunction. Moreover, they can affect the mind and, of course, behavior. While animals too may suffer from epilepsy, as far as we know, the electrical discharges are less likely to affect the mind and behavior, which is not surprising. While the epileptic seizures themselves are episodic, the mental and behavioral changes continue, in many cases, interictally. The episodic mental and behavioral manifestations are more dramatic, while the interictal ones are easier to study with anatomical and functional studies. The following extended summaries complement those presented in Part 1. PMID:23764496

  6. Psychosis and epilepsy in young people.

    Science.gov (United States)

    Lax Pericall, M T; Taylor, E

    2010-08-01

    The aim of this study was to describe the clinical characteristics of children and young people under 19 with both epilepsy and a psychotic state (schizophrenia-like psychotic episode, organic delusional disorder, or other brief psychotic episode). In total, the clinical case notes for 17 young people with these characteristics were identified retrospectively from three different sources. Compared with a group of young people with psychosis without epilepsy, children with epilepsy and psychosis more frequently had other neuropsychological problems like learning disability and autism. Both groups had a high rate of family histories of mental illness and social disability. Contrary to the findings in adults with psychosis and epilepsy, in this group of young people, psychosis was associated neither with temporal lobe epilepsy nor with mesial temporal sclerosis. The children with psychosis and epilepsy had a variety of seizure types and structural abnormalities.

  7. History of Neuropsychology Through Epilepsy Eyes

    Science.gov (United States)

    Loring, David W.

    2010-01-01

    In the 19th century, Hughlings Jackson relied on clinical history, seizure semiology, and the neurologic examination as methods for seizure localization to inform the first epilepsy surgeries. In the 20th century, psychological and neuropsychological tests were first employed as both diagnostic and prognostic measures. The contemporary practice of epilepsy evaluation and management includes neuropsychology as a critical component of epilepsy care and research, and epilepsy and neuropsychology have enjoyed a very special and synergistic relationship. This paper reviews how epilepsy has shaped the practice of neuropsychology as a clinical service by asking critical questions that only neuropsychologists were in a position to answer, and how clinical care of epilepsy patients has been significantly improved based on neuropsychology's unique contributions. PMID:20395259

  8. Complex single gene disorders and epilepsy.

    LENUS (Irish Health Repository)

    Merwick, Aine

    2012-09-01

    Epilepsy is a heterogeneous group of disorders, often associated with significant comorbidity, such as intellectual disability and skin disorder. The genetic underpinnings of many epilepsies are still being elucidated, and we expect further advances over the coming 5 years, as genetic technology improves and prices fall for whole exome and whole genome sequencing. At present, there are several well-characterized complex epilepsies associated with single gene disorders; we review some of these here. They include well-recognized syndromes such as tuberous sclerosis complex, epilepsy associated with Rett syndrome, some of the progressive myoclonic epilepsies, and novel disorders such as epilepsy associated with mutations in the PCDH 19 gene. These disorders are important in informing genetic testing to confirm a diagnosis and to permit better understanding of the variability in phenotype-genotype correlation.

  9. Focal epilepsy in the Belgian shepherd

    DEFF Research Database (Denmark)

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

    2009-01-01

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

  10. [Epilepsy And Driving Ability: The New Guideline].

    Science.gov (United States)

    Kurthen, Martin

    2015-10-28

    The Swiss Guideline concerning epilepsy and driving has recently been revised. Recommendations have changed significantly in several respects. Some modifications arise indirectly from a change in the overall concept of epilepsy. As a consequence of the application of the new ILAE definition and diagnostic criteria for epilepsy, there are now cases in which the diagnosis of epilepsy is established even after one single seizure. Furthermore, a concept of imminent epilepsy was introduced to identify patients without seizures, but with a high risk of a first seizure within twelve months. On the other hand, the concept of a "resolved epilepsy" was established to loosen driving regulations for longterm seizure-free patients. In addition, the new guideline provides differential recommendations for provoked vs. unprovoked seizures in several clinical constellations.

  11. 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.

  12. History of neuropsychology through epilepsy eyes.

    Science.gov (United States)

    Loring, David W

    2010-06-01

    In the 19th century, Hughlings Jackson relied on clinical history, seizure semiology, and the neurologic examination as methods for seizure localization to inform the first epilepsy surgeries. In the 20th century, psychological and neuropsychological tests were first employed as both diagnostic and prognostic measures. The contemporary practice of epilepsy evaluation and management includes neuropsychology as a critical component of epilepsy care and research, and epilepsy and neuropsychology have enjoyed a very special and synergistic relationship. This paper reviews how epilepsy has shaped the practice of neuropsychology as a clinical service by asking critical questions that only neuropsychologists were in a position to answer, and how clinical care of epilepsy patients has been significantly improved based on neuropsychology's unique contributions.

  13. Epilepsie aktuell - Zusammenfassung der IVETF-Empfehlungen zum "Therapeutischen Management der kaninen Epilepsie in Europa"

    NARCIS (Netherlands)

    Bhatti, Sofie; De Risio, Luisa; Muñana, Karen; Penderis, Jacques; Stein, Veronika M; Tipold, Andrea; Berendt, Mette; Farquhar, Robyn; Fischer, Andrea; Long, Sam; Löscher, Wolfgang; Mandigers, P.J.J.; Matiasek, Kaspar; Pakozdy, Akos; Patterson, Ned; Platt, Simon; Podell, Michael; Potschka, Heidrun; Rusbridge, Clare; Volk, Holger A

    2016-01-01

    Das therapeutische Management der kaninen Epilepsie muss an die individuellen Bedürfnisse des Hundes und seines Besitzers angepasst werden. 2015 hat die International Veterinary Epilepsy Task Force (IVETF) die Konsensempfehlungen „Therapeutisches Management der kaninen Epilepsie in Europa“ veröffen

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

    Directory of Open Access Journals (Sweden)

    Hallie Kendis

    2015-01-01

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

  15. Parkinson’s Disease and Cryptogenic Epilepsy

    Directory of Open Access Journals (Sweden)

    Andre Y. Son

    2016-01-01

    Full Text Available Epilepsy is an uncommon comorbidity of Parkinson’s disease (PD and has been considered not directly associated with PD. We present five patients (3 men and 2 women; ages 49–85 who had concomitant PD and cryptogenic epilepsy. Although rare, epilepsy can coexist with PD and their coexistence may influence the progression of PD. While this may be a chance association, an evolving understanding of the neurophysiological basis of either disease may suggest a mechanistic association.

  16. Neuromodulation in refractory epilepsy: Brazilian specialists consensus

    Directory of Open Access Journals (Sweden)

    Vera Cristina Terra

    Full Text Available ABSTRACT Epilepsy is a potentially devastating brain disorder characterized by a predisposition to spontaneous epileptic seizures. In patients with medically refractory epilepsy, new non-pharmacological therapeutic approaches may be considered. In this scenario, palliative surgery such as vagus nerve stimulation (VNS or deep brain stimulation (DBS may be indicated in a subset of patients. In this paper we make recommendations for the use of VNS and DBS in patients in Brazil with refractory epilepsy.

  17. Ian Curtis: Punk rock, epilepsy, and suicide.

    Science.gov (United States)

    Tuft, Mia; Gjelsvik, Bergljot; Nakken, Karl O

    2015-11-01

    Ian Curtis was the front man of the post-punk band Joy Division. He suffered from epilepsy and actively incorporated his experiences of the disease in his lyrics. Curtis had frequent epileptic seizures, both on and off stage. After dying from suicide in 1980, he became a legend in the post-punk milieu. The impact which the epilepsy, the epilepsy treatment, and comorbid depression had on his artistic life and premature death is not well known.

  18. 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.

  19. WONOEP appraisal: Imaging biomarkers in epilepsy.

    Science.gov (United States)

    van Vliet, Erwin A; Dedeurwaerdere, Stefanie; Cole, Andrew J; Friedman, Alon; Koepp, Matthias J; Potschka, Heidrun; Immonen, Riikka; Pitkänen, Asla; Federico, Paolo

    2017-03-01

    Neuroimaging offers a wide range of opportunities to obtain information about neuronal activity, brain inflammation, blood-brain barrier alterations, and various molecular alterations during epileptogenesis or for the prediction of pharmacoresponsiveness as well as postoperative outcome. Imaging biomarkers were examined during the XIII Workshop on Neurobiology of Epilepsy (XIII WONOEP) organized in 2015 by the Neurobiology Commission of the International League Against Epilepsy (ILAE). Here we present an extended summary of the discussed issues and provide an overview of the current state of knowledge regarding the biomarker potential of different neuroimaging approaches for epilepsy. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

  20. Clinical Analysis of Partial Epilepsy with Auras

    Directory of Open Access Journals (Sweden)

    Yang Liu

    2017-01-01

    Conclusions: This study suggested that auras played an important role in the diagnosis, classification, and localization of epilepsy. Epileptic aura could help differentiate partial seizure from generalized seizure.

  1. 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

  2. Epilepsy in literature, cinema and television

    National Research Council Canada - National Science Library

    Collado-Vázquez, Susana; Carrillo, Jesús María

    2012-01-01

    .... 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...

  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. 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.

  5. Natural history of absence epilepsy in children.

    Science.gov (United States)

    Wirrell, Elaine C

    2003-08-01

    Absence seizures may be seen in a variety of epileptic syndromes in childhood. Identification of the specific syndrome is important to determine medical prognosis. With childhood absence epilepsy, approximately two thirds of children can be expected to enter long-term remission, while in juvenile absence epilepsy, seizure control is often achieved, however, lifelong treatment is usually required. Other absence syndromes have a poorer prognosis, with lower rates of seizure control and remission. Psychosocial outcome is often poor, even in patients with more benign forms of absence epilepsy. Remission of epilepsy does not preclude psychosocial morbidity.

  6. EPILEPSY AND RISK OF SUICIDE (A REVIEW

    Directory of Open Access Journals (Sweden)

    O. A. Pylaeva

    2013-01-01

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

  7. Ketogenic diet for epilepsy treatment.

    Science.gov (United States)

    Sampaio, Letícia Pereira de Brito

    2016-10-01

    The ketogenic diet (KD), a high-fat, low-carbohydrate, and adequate-protein diet is an established, effective nonpharmacologic treatment option for intractable childhood epilepsy. The KD was developed in 1921 and even though it has been increasingly used worldwide in the past decade, many neurologists are not familiar with this therapeutic approach. In the past few years, alternative and more flexible KD variants have been developed to make the treatment easier and more palatable while reducing side effects and making it available to larger group of refractory epilepsy patients. This review summarizes the history of the KD and the principles and efficacy of the classic ketogenic diet, medium-chain triglyceride(s) (MCT) ketogenic diet, modified Atkins diet, and low glycemic index treatment.

  8. Ketogenic diet for epilepsy treatment

    Directory of Open Access Journals (Sweden)

    Letícia Pereira de Brito Sampaio

    Full Text Available ABSTRACT The ketogenic diet (KD, a high-fat, low-carbohydrate, and adequate-protein diet is an established, effective nonpharmacologic treatment option for intractable childhood epilepsy. The KD was developed in 1921 and even though it has been increasingly used worldwide in the past decade, many neurologists are not familiar with this therapeutic approach. In the past few years, alternative and more flexible KD variants have been developed to make the treatment easier and more palatable while reducing side effects and making it available to larger group of refractory epilepsy patients. This review summarizes the history of the KD and the principles and efficacy of the classic ketogenic diet, medium-chain triglyceride(s (MCT ketogenic diet, modified Atkins diet, and low glycemic index treatment.

  9. Interview accuracy in partial epilepsy.

    Science.gov (United States)

    Besocke, Ana Gabriela; Rojas, Juan Ignacio; Valiensi, Stella Maris; Cristiano, Edgardo; Garcia, María del Carmen

    2009-11-01

    The statistical concept of accuracy has never been applied to verify the history data collected on seizure disorders by open format interview. We compared patients'/witnesses' descriptions of epileptic seizures with videotaped seizure characteristics and analyzed the accuracy (ACC), sensitivity (SN), specificity (SP), false-positive rate (FPR), and false-negative rate (FNR) of various components of the semiology in patients with partial epilepsy. Language disturbances, complex automatisms, and autonomic signs have high ACC and intermediate FNRs. This means that these manifestations are most obvious to the witness/patient and, therefore, are memorized easily. Dystonic posturing and upper limb automatisms have the highest FNRs, leading to low ACC. These are very subtle signs, not vigorous enough to be paid attention to, but their predictive value in partial epilepsy syndromes is relatively high. We believe these signs need to be directly sought in the interview, because often the patient/witness pays limited attention to them.

  10. Temporal Lobe Epilepsy in Children

    Science.gov (United States)

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

    2012-01-01

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

  11. Temporal Lobe Epilepsy in Children

    Directory of Open Access Journals (Sweden)

    Katherine C. Nickels

    2012-01-01

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

  12. [Hemiconvulsion-hemiplegia-epilepsy syndrome].

    Science.gov (United States)

    Vestergaard, Maiken; Uldall, Peter

    2014-12-22

    Hemiconvulsion-hemiplegia-epilepsy syndrome is a rare consequence of a status epilepticus in the course of a febrile illness in children under the age of four years. Various degrees of hemiplegia and within a variable interval, subsequent epilepsia follows. Neuroimaging show unilateral cytotoxic oedema at the initial convulsive state, followed by severe chronic atrophy of the affected hemisphere. The aetiology remains unclear. Several mechanisms may contribute to this condition. To improve the outcome, further studies are needed and early diagnosis is essential.

  13. JUVENILE MYOCLONIC EPILEPSY: A FOCUS ON THE EFFICACY OF THERAPY AND THE RATE OF RELAPSES ACCORDING TO LONG-TERM FOLLOW-UP DATA

    Directory of Open Access Journals (Sweden)

    K. Yu. Mukhin

    2015-01-01

    Full Text Available Juvenile myoclonic epilepsy (JME is a type of adolescent-onset idiopathic generalized epilepsy with the appearance of massive myoclonic seizures and, in most cases, generalized convulsions occurring chiefly in the period after awakening. It is assumed that there is a two-locus (dominant and recessive model of inheritance of JME; moreover, the dominant gene is located on the short arm of chromosome 6. JME is one of the most common types of epilepsy and most frequent among idiopathic generalized epilepsies. Its rate is 5 to 11 % of all types of epilepsy with some female predominance. The diagnosis of JME creates no problems in typical cases. The disease is generally manifested by a concurrence of myoclonic (usually in the hands and generalized clonic-tonic-clonic seizures occurring during waking. Typical absences and epileptic myoclonus of the eyelid are rarer. Seizures are clearly provoked by sleep deprivation. As in other types of idiopathic epilepsy, the patients’ neurological status is normal; no intellectual disabilities are observed. This type of epilepsy is well treatable and, when initial monotherapy is correctly used, sustainable remission occurs immediately in the vast majority (75–85 % of the patients with JME. However, the problem of these patients, unlike that of patients with many forms of idiopathic epilepsy, is that sleep pattern disturbance, missing a dose of antiepileptic drugs (AED, or therapy refusal give rise to relapse of seizures in the vast majority of patients even in long-term remission.Due to the fact that the data available in the literature on the efficacy of therapy in patients with JME and particularly on the results of its discontinuation are contradictory, the authors of the paper conducted an investigation to determine therapeutic effectiveness and the frequency of relapse of seizures in patients with JME during a long-term follow-up.The study enrolled 106 JME patients who had been regularly followed up at

  14. [Absence epilepsy models in rodents].

    Science.gov (United States)

    Eguibar, José R; Cortés, M del Carmen

    2010-01-01

    Animal models are a useful tool because it is possible to perform neuroanatomical, electrophysiological and pharmacological studies throughout their development. The most common models for experimental studies of absence seizures are the GAERS (Genetic Absence Epilepsy rat from Strasbourg) and the WAG/Rij (Wistar Absence Glaxo from Rijswik) rats. In WAG/RU rats it has been demonstrated that the perioral region in the somatosensorial cortex shows a zone with hyperexcitability which is the origin of spike wave discharges (SWD). In fact, this cortical area shows modifications in sodium channels which increase the excitability of cortical neurons; for this reason, local application of phenytoin or lidocaine, which block sodium channels, reduce SWD. Ethosuximide decreases and pentylenetetrazol increases SWD in GAERS and WAG/Rij rats. At the Institute of Physiology in the Benemérita Autonomous University of Puebla we have obtained a myelin mutant rat called "taiep", which is the acronym of tremor, ataxia, immobility episodes, epilepsy, and paralysis. This model shows a SWD with higher frequency during awaking periods; the SWD increases with systemic administration of pentylenetetrazol and decreases with ethosuximide. All these findings in animal models are susceptible to be tested in human beings through magneto- and electro-encephalographic recording techniques to discern the source of this type of epilepsy. Thus, in biomedical research, animal models are useful tools to discern the neural and network alterations responsible for the absence seizures, and allow to design of more specific therapeutic options with fewer side effects.

  15. Qualitative Dermatoglyphics In Idiopathic Epilepsy

    Directory of Open Access Journals (Sweden)

    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.

  16. 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/.

  17. 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.

  18. Excessive masturbation after epilepsy surgery.

    Science.gov (United States)

    Ozmen, Mine; Erdogan, Ayten; Duvenci, Sirin; Ozyurt, Emin; Ozkara, Cigdem

    2004-02-01

    Sexual behavior changes as well as depression, anxiety, and organic mood/personality disorders have been reported in temporal lobe epilepsy (TLE) patients before and after epilepsy surgery. The authors describe a 14-year-old girl with symptoms of excessive masturbation in inappropriate places, social withdrawal, irritability, aggressive behavior, and crying spells after selective amygdalohippocampectomy for medically intractable TLE with hippocampal sclerosis. Since the family members felt extremely embarrassed, they were upset and angry with the patient which, in turn, increased her depressive symptoms. Both her excessive masturbation behavior and depressive symptoms remitted within 2 months of psychoeducative intervention and treatment with citalopram 20mg/day. Excessive masturbation is proposed to be related to the psychosocial changes due to seizure-free status after surgery as well as other possible mechanisms such as Kluver-Bucy syndrome features and neurophysiologic changes associated with the cessation of epileptic discharges. This case demonstrates that psychiatric problems and sexual changes encountered after epilepsy surgery are possibly multifactorial and in adolescence hypersexuality may be manifested as excessive masturbation behavior.

  19. 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

  20. 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.

  1. Pharmacoresistant epilepsy: unmet needs in solving the puzzle(s).

    Science.gov (United States)

    Weaver, Donald F; Pohlmann-Eden, Bernd

    2013-05-01

    Pharmacoresistant epilepsy is a significant medical problem. The 2nd Halifax International Epilepsy Conference & Retreat identified crucial needs, which if successfully addressed, will aid in paving the way to improved lives for people with pharmacoresistant epilepsy. These are needs: (1) for an evidence-based and dynamic definition of pharmacoresistant epilepsy; (2) for a comprehensive description of the natural history of pharmacoresistant epilepsy; (3) for a comprehensive description of the complications and comorbidities of pharmacoresistant epilepsy; (4) for a rigorous delineation of the epidemiology and socioeconomic impact of pharmacoresistant epilepsy; (5) for clinically meaningful diagnostic and prognostic physiologically based electroencephalography (EEG) biomarkers; (6) for clinically meaningful diagnostic and prognostic anatomically based (MRI Imaging) biomarkers; (7) for biomolecular/biochemical mechanistic understanding of etiopathogenesis for pharmacoresistant epilepsy; (8) for representative animal models of pharmacoresistant epilepsy; (9) for new and effective drugs or other novel treatments for pharmacoresistant epilepsy; and (10) to promote continuing research and research funding targeting pharmacoresistant epilepsy.

  2. Síndrome opsoclono-mioclono-atáxico paraneoplásico Paraneoplastic opsoclonus myoclonus ataxia syndrome

    Directory of Open Access Journals (Sweden)

    S. Aguilera

    2009-04-01

    Full Text Available El síndrome opsoclono-mioclono-atáxico (SOMA es un trastorno del movimiento muy infrecuente, de origen autoinmune y de aparición a cualquier edad, más probable entre los 6-36 meses. Se presenta el caso de una niña de 30 meses, previamente sana, que desarrolló progresivamente en cuatro días marcha inestable, temblor intencional, habla escandida, irritabilidad y trastorno del sueño. El resto de la exploración física y neurológica era normal. Presentó exantema leve tres semanas antes. Al ingreso, la analítica general, cultivos, tóxicos en orina, serologías, electroencefalograma y tomografía cerebral (TC fueron normales. La punción lumbar mostró linforraquia leve. Al quinto día desde el inicio, la ataxia impedía la sedestación y el temblor era generalizado agravado probablemente por mioclonias intencionales. Aparecieron entonces movimientos oculares rápidos, sacádicos, multidireccionales, aunque conjugados. Ante el diagnóstico de opsoclono, se solicitó radiografía de tórax observando una masa torácica paravertebral, corroborada en la TC torácica. La cirugía confirmó un ganglioneuroblastoma localizado. La enolasa neuronal específica en sangre y catecolaminas en orina fueron normales. El opsoclono desapareció con prednisona oral a altas dosis y tras cirugía. Un año después precisaba dosis mínima de corticoide por aparición de leve inestabilidad de la marcha e irritabilidad al suspender la medicación.Opsoclonus myoclonus ataxia syndrome (OMAS is a very infrequent paraneoplastic or postinfectious movement disorder, which may occur at any age, most commonly between 6 and 36 months of age. In four days, a previously healthy 30-month-old girl progressively developed gait instability, intention tremor, dysarthric speech, irritability and altered sleep. Physical and neurological examination did not reveal additional deficits. She had had a transient exanthema without fever three weeks before. Basic blood analysis

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

    DEFF Research Database (Denmark)

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

    2015-01-01

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

  4. Effect of Seizure Clustering on Epilepsy Outcome

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-05-01

    Full Text Available A prospective, long-term population-based study was performed to determine whether seizure clustering (3 or more afebrile seizures during a 24 hour period is associated with drug resistance and increased mortality in childhood-onset epilepsy, in a study at University of Turku, Finland, and the Epilepsy Research Group, Berlin, Germany.

  5. High frequency oscillations in epilepsy surgery

    NARCIS (Netherlands)

    van 't Klooster, MA

    2016-01-01

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

  6. Profiling cytokines in temporal lobe epilepsy

    NARCIS (Netherlands)

    Kan, A.A.

    2012-01-01

    Temporal lobe epilepsy (TLE) is one of the most common types of partial epilepsy. Because about 30% of the TLE patients poorly respond to medication, identification of new drug targets to treat TLE is imperative. This requires detailed knowledge of the pathophysiology of TLE . The aim of this thesis

  7. Noninvasive treatment alternative for intractable startle epilepsy

    NARCIS (Netherlands)

    Klinkenberg, Sylvia; Ubbink, Sander; Vles, Johannes; de Louw, Anton; van Hall, Mariette Debeij; Scheijen, Dyon; Brokx, Jan

    2014-01-01

    We describe a treatment alternative for intractable, startle-provoked, epileptic seizures in four children aged between 8 and 14. Three of the four children had symptomatic localization-related epilepsy. They all suffered from intractable epilepsy precipitated by sudden sounds. The fact that seizure

  8. Living with Epilepsy--Not around It

    Science.gov (United States)

    Apel, Laura

    2008-01-01

    This article presents an interview on Kevin Eggers, a 19-year-old college student from Seattle, Washington, who was diagnosed with epilepsy but had not let it prevent him from accomplishing his goals. As an Epilepsy Advocate, Kevin helps other teens and young adults realize that having a disability does not mean not living a normal and fulfilling…

  9. Pragmatic Communication Deficits in Children with Epilepsy

    Science.gov (United States)

    Broeders, Mark; Geurts, Hilde; Jennekens-Schinkel, Aag

    2010-01-01

    Background: Various psychiatric and neurological disorders including epilepsy have been associated with language deficits. Pragmatic language deficits, however, have seldom been the focus of earlier studies in children with epilepsy. Moreover, it is unknown whether these pragmatic deficits are related to general intellectual functioning. Both…

  10. Epilepsy and Intellectual and Developmental Disabilities

    Science.gov (United States)

    Oguni, Hirokazu

    2013-01-01

    The co-occurrence of epilepsy in people with intellectual disabilities (ID) and other developmental disabilities (DD) has received attention because it has a significant negative impact on health, well-being, and quality of life. The current research investigating the frequency and form of epilepsy in children with ID and DD is reviewed, with…

  11. Pragmatic Communication Deficits in Children with Epilepsy

    Science.gov (United States)

    Broeders, Mark; Geurts, Hilde; Jennekens-Schinkel, Aag

    2010-01-01

    Background: Various psychiatric and neurological disorders including epilepsy have been associated with language deficits. Pragmatic language deficits, however, have seldom been the focus of earlier studies in children with epilepsy. Moreover, it is unknown whether these pragmatic deficits are related to general intellectual functioning. Both…

  12. Epilepsy and Intellectual and Developmental Disabilities

    Science.gov (United States)

    Oguni, Hirokazu

    2013-01-01

    The co-occurrence of epilepsy in people with intellectual disabilities (ID) and other developmental disabilities (DD) has received attention because it has a significant negative impact on health, well-being, and quality of life. The current research investigating the frequency and form of epilepsy in children with ID and DD is reviewed, with…

  13. Living with Epilepsy--Not around It

    Science.gov (United States)

    Apel, Laura

    2008-01-01

    This article presents an interview on Kevin Eggers, a 19-year-old college student from Seattle, Washington, who was diagnosed with epilepsy but had not let it prevent him from accomplishing his goals. As an Epilepsy Advocate, Kevin helps other teens and young adults realize that having a disability does not mean not living a normal and fulfilling…

  14. Anxiety in adolescent epilepsy. A clinimetric analysis.

    Science.gov (United States)

    Carrozzino, Danilo; Marchetti, Daniela; Laino, Daniela; Minna, Maria; Verrocchio, Maria Cristina; Fulcheri, Mario; Verrotti, Alberto; Bech, Per

    2016-08-01

    Background Anxiety and depression have been considered to be neglected disorders in epilepsy. Because panic disorder is one of the most important anxiety disorders, it has been problematic to use very comprehensive anxiety questionnaires in epilepsy patients, as panic attacks and epileptic seizures, although two distinct clinical entities from a diagnostic point of view, show a significant overlap of symptoms. Aims We have focused on single items for anxiety and depression as screening candidates in adolescent epilepsy. Methods The individual panic attack item in the Screen for Children Anxiety Related Emotional Disorders Scale (SCARED) and the single depression item in the Kellner Symptom Questionnaire were tested. Our samples consisted of adolescent patients with epilepsy and a matched control group with healthy participants, as well as two numerical groups acting as controls. Results The single panic attack item identified panic anxiety in 24.1% in the group of patients with epilepsy and 0.0% in the matched control group (p = 0.01). The single depression item identified 52.2% with depression in the epilepsy group and 6.2% in the matched control group (p = 0.001). Conclusion As screening instruments, single items of panic attack and depression are sufficient to screen for these affective states in adolescent epilepsy. The clinical implications are that it is important to be quite specific when screening for depression and panic attacks in adolescent patients with epilepsy.

  15. Sleep Disorders in Children with Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-01-01

    Full Text Available Sleep and behavior disorders in 55 children with epilepsy (mean age 10 years; range 4-16 years were compared with those in their non-epileptic siblings of the same ages and sex ratio and correlated with epilepsy-specific factors, in a study at Alberta Children's Hospital, University of Calgary, Alberta, Canada.

  16. The representation of epilepsy in popular music.

    Science.gov (United States)

    Baxendale, Sallie

    2008-01-01

    Much can be learned about the contemporary stereotypes associated with epilepsy by studying the representation of the disorder in paintings, literature, and movies. Popular music is arguably the most accessible and ubiquitous of the creative art forms, touching most of us on a daily basis. Reviewed here are the ways in which epilepsy and seizures are used in the lyrics of musicians from a wide variety of musical genres, from hip-hop to rhythm and blues. Many of the ancient associations of epilepsy with madness, horror, and lunacy can be found in these lyrics. However, the language of epilepsy has also been appropriated by some musical artists to represent a state of sexual ecstasy and dance euphoria. The references to these states as "epilepsy" or a "seizure" in numerous songs suggest that this shorthand is widely recognized within some subcultures. Although epilepsy has frequently been associated with female sexual availability in other creative art forms, this novel use of the language of epilepsy represents a contemporary departure in the artistic application of epilepsy-related images and associations in the 21st century.

  17. 脑干起源肌阵挛模型的建立%Developing an animal model of the brain stem myoclonus

    Institute of Scientific and Technical Information of China (English)

    何志江; 曹洁; 蔡方成; 冯成功; 陈恒胜

    2010-01-01

    Objective To develop experimental animal model of the brain stem myoclonus,which more closely replicate clinic features of mechanism, behavior, neuroelectrophysiology and pharmacodynamics.Methods L-5-HTP (the precursor of L-5-HT)was microinjected into the dorsal pons of young guinea pig to induce myoclonus (electromyogram burst of myoclonus≤400 ms by synchronous recording).Some animals were pretreated with anticonvulsant VPA,CZP or CBZ at effective dose 50 (EC_(50)).Myoclonus was induced when the drug level was within their effective anticonvulsion concentration.The neuroelectrophysiological characteristics of myoclonus including latency,time of reaching its peak,duration of seizure peak,the maximum seizure frequency and total duration were detected.EMG and ictal electroencephalogram(EEG)were recorded synchronously.The origin of myoclonus and its correlation with epileptic discharges were further confirmed by jerk-locked back averaging(JLA).Results (1)L-5-HTP induced pure myoclonus from the dorsal pons of guinea pig permanently(8/every site,the rate of producing myoclonus is 100%).(2)The myoclonus presented bilaterally or as general myoclonus,which was sensitive to tactile and sound sensation.(3)The EMG duration of the myoclonus wag longer((208.75 ± 81.42)ms),and ictal EEG showed scattered and irregular spikes and sharp waves without time-locked correlation with EMG activities.(4)The synchronous ictal EEG of the myoclonus showed spike and sharp waves,but there was no time-locked EEG activity in JLA.(5)In the animals treated with anticonvulsant at EC_(50) concentrations:VPA and CZP decreased the maximum seizure frequency(there are 28.13±3.79 per minutes in VPA group and 37.17±4.67 perminutes in CZP group)and shortened the duration of peak time ((55.00±14.14)minutes in VPA group and(50.00±11.73)minutes in CZP group respectively)and total time(VPA group was(124.17±40.04)minutes and CZP group was(156.88±30.71)minutes)of myoclonus(F value were between 23.41 and

  18. 肌阵挛患儿神经电生理的临床研究%Polyneuroelectrophysiological studies of myoclonus in children

    Institute of Scientific and Technical Information of China (English)

    王波; 蔡方成

    2009-01-01

    clinical and neuroelectrophysiological characteristics of myoclonus of different origins in children. Method Thirty-two children with myoclonic seizure were analyzed by video electroencephalogram-electromyogram (VEEG-EMG) polygraphic recordings, jerk-locked back averaging (JLA) and short latency somatosensory evoked potential (SSEP). They were classified into cortical myoclonus (CM), subcortical myoclonus (SCM), and unidentified group according to their generating locations, and also were classified into epileptic and non-epileptic myoclonus based on their different properties. Result The 32 patients included 14 with CM, 14 with SCM and 4 with unidentified origin. (1) CM group: the myoclonic patients presented as focal and/or muhifocal seizures in 11 cases and as generalized in another 3 patients besides focal myoclonus. Arrhythmic jerks were shown completely in 11 cases and rhythmic seizures were concomitant in another 3 patients. Myoclonus sensitivity to sensory stimulus was observed in 10 patients. The durations of EMG burst were 10-52 ms. Background EEGs were presented normal in 4 patients and slowing in 10 patients. The epileptiform discharges in interictal EEG were variable. The ictal EEG showed epileptic discharges with each clinical jerk in 9 cases but only with some jerks in 4 patients. Another one had no any EEG abnormality in each jerk. The myoclonus-related spikes were disclosed in 13 eases by JLA. Of the 10 cases who underwent SSEP, giant SSEPs were seen in 3 cases including the one with normal EEG and JLA analyses. (2) SCM group: myoclonus was presented as generalized in 8 cases and as focal in 6 cases. All the patients showed arrhythmic jerks and 14 cases were not sensitive to stimulus. The durations of EMG burst were from 60 ms to 400 ms. Normal background EEGs were presented in 6 patients and slowing in 8 patients. The interictal EEG showed no consistent abnormality. Epileptic discharges associated with myoclonns seizures were not found in any of 9

  19. 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...

  20. Maternal Mortality in Women with Epilepsy

    LENUS (Irish Health Repository)

    Holohan, M

    2016-10-01

    It is estimated that, in Ireland, there are 10,000 women with epilepsy of childbearing potential1. In this paper the maternal mortality rate for women with epilepsy attending the Rotunda Hospital Epilepsy Clinic 2004 - 2013 was determined. There were 3 maternal deaths in women with epilepsy during this time, which represents a mortality rate of 0.8%. In those women who died, there were concerns in relation to risks to the foetus by taking Anti-Epileptic Drugs (AED) and also issues with access to neurology services before pregnancy, acceptance of specialist support and lack of consistency in advice from health care professionals outside of Ireland. Implementing the nationally agreed care plan for women with epilepsy will improve the quality of care given and potentially we will see a reduction in maternal mortality in these women.

  1. 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.

  2. Social competence of preschool children with epilepsy.

    Science.gov (United States)

    Rantanen, K; Timonen, S; Hagström, K; Hämäläinen, P; Eriksson, K; Nieminen, P

    2009-02-01

    The aims of this study were to describe the social competence of 3- to 6-year-old children with epilepsy (n=26) compared with that of age- and gender-matched healthy controls (n=26). Social competence was assessed with the Vineland Social Maturity Scale, Conners' Parent Rating Scales-Revised, and the Child Behavior Checklist. The results indicate that the children with epilepsy, especially with complicated epilepsy, had fewer age-appropriate social skills and more attention and behavior problems than the healthy children, as reported by parents. It is possible that the lack of age-appropriate social skills and the presence of attention problems predispose to behavioral problems. Also, epilepsy-related factors impaired the achievement of social competence. This study shows that the preschool children with complicated, early-onset epilepsy are at increased risk of difficulties in social competence.

  3. Translational approach for gene therapy in epilepsy

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  4. Danish experience with paediatric epilepsy surgery

    DEFF Research Database (Denmark)

    Underbjerg, Ebba von Celsing; Hoei-Hansen, Christina E; Madsen, Flemming Find

    2015-01-01

    INTRODUCTION: Epilepsy surgery is increasingly used to treat children with medically intractable epilepsy. This study investigates the aetiology and seizure outcome in Danish children operated between 1996 and 2010. METHODS: Retrospectively collected data on structural magnetic resonance imaging...... (MRI) diagnoses, surgical procedures and seizure outcomes classified according to the Engel Classification were used. Changes over time grouped as 1996-2000, 2001-2005 and 2006-2010 were analysed. RESULTS: A total of 95 children underwent epilepsy surgery. Sixty-three operations were performed...... of children who undergo epilepsy surgery have a good, worthwhile seizure outcome. The seizure outcome for Danish children corresponds to that of other epilepsy surgery centres. The clinical criteria for selection of patients changed over time. FUNDING: none. TRIAL REGISTRATION: The Danish Data Protection...

  5. Incidence and prevalence of epilepsy in Denmark

    DEFF Research Database (Denmark)

    Christensen, Jakob; Vestergaard, Mogens; Pedersen, Marianne G

    2007-01-01

    PURPOSE: To estimate the occurrence of epilepsy in Denmark between 1977 and 2002, taking gender, age, and secular trends into consideration. METHODS: We used the Danish Civil Registration System to identify all persons born in Denmark and the Danish National Hospital Register to identify persons...... registered with epilepsy between 1977 and 2002. RESULTS: Between 1977 and 2002 the average incidence of epilepsy was 68.8 new epilepsy patients per 100,000 person-years at risk. However, the incidence changed with calendar time and increased steeply from 1990 to 1995, probably due to changes in diagnostic...... declined from a high level in children to a low level between 20 and 40 years of age, and thereafter a gradual increase was seen. The incidence rate was slightly higher in men than in women except for the age range 10-20 years. About 2% of the population was diagnosed with epilepsy at some point during...

  6. Cognitive development and pediatric epilepsy surgery

    Directory of Open Access Journals (Sweden)

    Santhosh George Thomas

    2008-01-01

    Full Text Available Children with intractable epilepsy are at considerable risk for cognitive impairment, school failure, behaviour and mental health problems and overall compromised quality of life. It influences the development of cognitive functions during the period of brain plasticity. Fifty percent of patients with intractable epilepsy have surgically remediable epilepsy syndromes. Epilepsy surgery can lead to seizure freedom following which development of functions in the residual brain occur which leads to cognitive improvement. Social aspects, side effects of antiepileptics, seizure perception and the overall level of quality of life are found to improve after surgery. The nature of the underlying brain disorder giving rise to the seizures appears to affect outcome. Follow up period is essential to determine effects of cognition after epilepsy surgery. It should be long enough for reconfiguration of the individual, family functioning and for restitution at the level of brain plasticity to occur.

  7. Epilepsy during pregnancy: focus on management strategies

    Science.gov (United States)

    Borgelt, Laura M; Hart, Felecia M; Bainbridge, Jacquelyn L

    2016-01-01

    In the US, more than one million women with epilepsy are of childbearing age and have over 20,000 babies each year. Patients with epilepsy who become pregnant are at risk of complications, including changes in seizure frequency, maternal morbidity and mortality, and congenital anomalies due to antiepileptic drug exposure. Appropriate management of epilepsy during pregnancy may involve frequent monitoring of antiepileptic drug serum concentrations, potential preconception switching of antiepileptic medications, making dose adjustments, minimizing peak drug concentration with more frequent dosing, and avoiding potentially teratogenic medications. Ideally, preconception planning will be done to minimize risks to both the mother and fetus during pregnancy. It is important to recognize benefits and risks of current and emerging therapies, especially with revised pregnancy labeling in prescription drug product information. This review will outline risks for epilepsy during pregnancy, review various recommendations from leading organizations, and provide an evidence-based approach for managing patients with epilepsy before, during, and after pregnancy. PMID:27703396

  8. [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

    The history of eponyms for epilepsy in the lands of the Eastern globe present the portrait of the attitudes of both the laymen and skilled people towards the disease and patient, as well as to the Nature itself. As opposed to the West which during the Middle ages changed its concepts of epilepsy as the organic brain disease for the sublime 'alchemic' position, the people of the East were more prone to consider from the beginning of their civilization till the XIX century that epilepsy is the consequence of the evanescent spiritual and extracorporal forces which by themselves were out of their reach. As compared to the western civilization, the historical resources are, often as a consequence of a linguistic barriers, more scarce-as consequently is the number of eponyms, but are nevertheless picturesque. The medical science from Babylonian period presumed that epileptic manifestations are the consequence of the demonic or ill spiritual actions. There existed an attitude that at the beginning of an epileptic attack the patient was possessed by a demon (the Akkadic, i.e., Babylonian verb "sibtu" denoting epilepsy, had the meaning "to seize" or "to be obsessed"); at the end of the clonic phase the demon departed from the body. Different demons were responsible for different forms of epilepsy such as nocturnal and children epilepsy, absence epilepsy and pure convulsions, simple and complex automatisms, and gelastic epilepsy. Thus, the doctors from the period of Babylon aside from making primordial classification of epilepsies, knew about their clinical picture (prodromal symptoms and aura, Jackson's epilepsy. Todd's paralysis), postictal phenomena and intericatl emotional instability; provocative factors were also known (sleep deprivation, emotions, as well as alcohol, albeit in a negative sense-as a cure for epilepsy). There is no doubt than in the period of Babylon the clinical picture of serial fits and its progress to status epilepticus were clearly recognized and

  9. 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

  10. Reduced language connectivity in pediatric epilepsy.

    Science.gov (United States)

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

    2015-02-01

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

  11. Epilepsy and seizure ontology: towards an epilepsy informatics infrastructure for clinical research and patient care

    Science.gov (United States)

    Sahoo, Satya S; Lhatoo, Samden D; Gupta, Deepak K; Cui, Licong; Zhao, Meng; Jayapandian, Catherine; Bozorgi, Alireza; Zhang, Guo-Qiang

    2014-01-01

    Objective Epilepsy encompasses an extensive array of clinical and research subdomains, many of which emphasize multi-modal physiological measurements such as electroencephalography and neuroimaging. The integration of structured, unstructured, and signal data into a coherent structure for patient care as well as clinical research requires an effective informatics infrastructure that is underpinned by a formal domain ontology. Methods We have developed an epilepsy and seizure ontology (EpSO) using a four-dimensional epilepsy classification system that integrates the latest International League Against Epilepsy terminology recommendations and National Institute of Neurological Disorders and Stroke (NINDS) common data elements. It imports concepts from existing ontologies, including the Neural ElectroMagnetic Ontologies, and uses formal concept analysis to create a taxonomy of epilepsy syndromes based on their seizure semiology and anatomical location. Results EpSO is used in a suite of informatics tools for (a) patient data entry, (b) epilepsy focused clinical free text processing, and (c) patient cohort identification as part of the multi-center NINDS-funded study on sudden unexpected death in epilepsy. EpSO is available for download at http://prism.case.edu/prism/index.php/EpilepsyOntology. Discussion An epilepsy ontology consortium is being created for community-driven extension, review, and adoption of EpSO. We are in the process of submitting EpSO to the BioPortal repository. Conclusions EpSO plays a critical role in informatics tools for epilepsy patient care and multi-center clinical research. PMID:23686934

  12. Management of Epilepsy and Pregnancy

    Directory of Open Access Journals (Sweden)

    Thomas Sanjeev

    2006-01-01

    Full Text Available Epilepsy is recognized as the commonest serious neurological disorder in the world. Women with epilepsy (WWE experience several gender-related physical and social problems. They constitute high obstetric risk because of reduced fertility, risk of seizures during pregnancy, and complications of pregnancy. Hormonal and other factors can alter the pharmacokinetics of antiepileptic drugs (AED during pregnancy and puerperium. Antenatal exposure to AEDs, particularly at higher dosage and in polytherapy, increases the risk of fetal malformation. Recent reports raise the possibility of selective developmental language deficits and neurocognitive deficits with antenatal exposure to AEDs. There are concerns regarding the effect of traces of AEDs that pass to the infant during breast-feeding. The pre conception management is the cornerstone for epilepsy care in WWE. A careful reappraisal of each case should ascertain the diagnosis, the need for continued AED therapy, selection of appropriate AEDs, optimization of the dosage, and prescription of folic acid. During pregnancy, the fetal status needs to be monitored with estimation of serum a-feto-protein and ultrasound screening for malformations. The dosage of AEDs can be adjusted according to clinical requirement and blood levels of AEDs. Several institutions recommend oral vitamin K toward the end of pregnancy when enzyme-inducing AEDs are prescribed because the latter may potentially predispose the new born to hemorrhagic disease, but recent reports indicate that such a risk is practically negligible. WWE who are using enzyme-inducing AEDs (phenobarbitone, primidone, phenytoin, carbamazepine, and oxcarbazepine need to know that these AEDs may lead to failure of oral contraception.

  13. Mitochondrial myopathy and myoclonic epilepsy

    Directory of Open Access Journals (Sweden)

    Walter O. Arruda

    1990-03-01

    Full Text Available The authors describe a family (mother, son and two daughters with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one acute hemiplegic episode due to an ischemic infarct in the right temporal region. All the patients studied had hypertension. EEG disclosed photomyoclonic response in the proband patient. Muscle biopsy disclosed ragged-red fibers and abnormal mitochondria by electron microscopy. Biochemical analysis showed a defect of cytochrome C oxidase in mitochondria isolated from skeletal muscle. Several clinical and genetic aspects of the mitochondrial encephalomyopathies are discussed.

  14. Hemimegalencephaly without epilepsy: case report.

    Science.gov (United States)

    James, Greg; Shanmuganathan, Mano; Harkness, William

    2014-09-01

    Hemimegalencephaly is a rare sporadic brain malformation characterized by enlargement of one cerebral hemisphere. The classical clinical triad consists of intractable epilepsy, severe psychomotor delay and hemiparesis. In this report, we describe a case of a 3-year-old girl, with all the radiological features of severe hemimegalencephaly but with a comparatively benign clinical course. She had no hemiparesis, mild delay and no seizures. An extensive literature review reveals only one previously reported case of hemimegalencephaly with the absence of seizures, as part of case series. This is the first dedicated case report, with clinical description and radiological images, of this entity.

  15. Musical and poetic creativity and epilepsy.

    Science.gov (United States)

    Hesdorffer, Dale C; Trimble, Michael

    2016-04-01

    Associations between epilepsy and musical or poetic composition have received little attention. We reviewed the literature on links between poetic and musical skills and epilepsy, limiting this to the Western canon. While several composers were said to have had epilepsy, John Hughes concluded that none of the major classical composers thought to have had epilepsy actually had it. The only composer with epilepsy that we could find was the contemporary composer, Hikari Oe, who has autism and developed epilepsy at age 15years. In his childhood years, his mother found that he had an ability to identify bird sound and keys of songs and began teaching him piano. Hikari is able to compose in his head when his seizures are not severe, but when his seizures worsen, his creativity is lost. Music critics have commented on the simplicity of his musical composition and its monotonous sound. Our failure to find evidence of musical composers with epilepsy finds parallels with poetry where there are virtually no established poets with epilepsy. Those with seizures include Lord George Byron in the setting of terminal illness, Algernon Swinburne who had alcohol-related seizures, Charles Lloyd who had seizures and psychosis, Edward Lear who had childhood onset seizures, and Vachel Lindsay. The possibility that Emily Dickinson had epilepsy is also discussed. It has not been possible to identify great talents with epilepsy who excel in poetic or musical composition. There are few published poets with epilepsy and no great composers. Why is this? Similarities between music and poetry include meter, tone, stress, rhythm, and form, and much poetry is sung with music. It is likely that great musical and poetic compositions demand a greater degree of concentration and memory than is possible in epilepsy, resulting in problems retaining a musical and mathematical structure over time. The lack of association between recognizable neuropsychiatric disorders and these skills is a gateway to

  16. [Mood disorders and epilepsy surgery: A review].

    Science.gov (United States)

    Yrondi, A; Arbus, C; Valton, L; Schmitt, L

    2017-04-01

    Historically, there is a strong link between depression and epilepsy. Patients with epilepsy are four to five times more likely to develop a depressive syndrome. It seems that the link between epilepsy and depression is bidirectional. There is little data on mood disorders secondary to epilepsy surgery. The goal of epilepsy surgery is to reduce the number and frequency of attacks, which in turn would allow improvements in mood disorders and cognitive impairment. A systematic search of the international literature was performed using the bibliographic search engines PubMed and Embase. The following MESH terms were used: epilepsy surgery AND (depression OR depressive disorder OR mood disorder). We also used the "related articles" of PubMed, bibliography surveys, conference abstracts and Google Scholar to identify additional relevant papers. Of the 130 studies found by the systematic search, 112 are excluded because they did not take into account the mood disorders secondary to epilepsy surgery. Fifteen studies are included in this review of the literature with a case study. Depression is the psychopathological condition that is the most frequently studied. According to several studies, the prevalence of depression is approximately 30% with nearly 70% of cases diagnosed during the first three months following epilepsy surgery. The majority of patients presented depressive symptoms during the first 3 to 12months after epilepsy surgery. In these studies, the risk of developing depression is correlated with the existence of previous depressive elements relative to the epilepsy surgery. A small number of studies reported cases of de novo depression. Studies have shown a correlation between very good to excellent control of epileptic seizures and a persistent improvement of mood disorders. It would seem that depressive symptoms post-surgery are more common when the surgical intervention concerns the temporal lobe and in particular mesial resections. There are only very

  17. Neuropsychological profile in patients with temporal lobe epilepsy

    OpenAIRE

    Marques, Daniela; Ferreira, Naide; Horácio, Góis; Reis, Alexandra; Jacinto, Gonçalo

    2013-01-01

    The temporal lobe epilepsy (TLE) is the most common type of refractory epilepsy in adults. There is a wide consensus regarding the commitment of memory in temporal lobe epilepsy with hippocampal sclerosis. However, the consensus is not as widespread with respect to the other functions such as attention, executive functions, language and intellectual performance. For this study we analyzed retrospectively a group of 76 patients with refractory epilepsy, 48 patients with temporal lobe epilepsy ...

  18. Epilepsy priorities in Europe: A report of the ILAE-IBE Epilepsy Advocacy Europe Task Force.

    Science.gov (United States)

    Baulac, Michel; de Boer, Hanneke; Elger, Christian; Glynn, Mike; Kälviäinen, Reetta; Little, Ann; Mifsud, Janet; Perucca, Emilio; Pitkänen, Asla; Ryvlin, Philippe

    2015-11-01

    The European Forum on Epilepsy Research (ERF2013), which took place in Dublin, Ireland, on May 26-29, 2013, was designed to appraise epilepsy research priorities in Europe through consultation with clinical and basic scientists as well as representatives of lay organizations and health care providers. The ultimate goal was to provide a platform to improve the lives of persons with epilepsy by influencing the political agenda of the EU. The Forum highlighted the epidemiologic, medical, and social importance of epilepsy in Europe, and addressed three separate but closely related concepts. First, possibilities were explored as to how the stigma and social burden associated with epilepsy could be reduced through targeted initiatives at EU national and regional levels. Second, ways to ensure optimal standards of care throughout Europe were specifically discussed. Finally, a need for further funding in epilepsy research within the European Horizon 2020 funding programme was communicated to politicians and policymakers participating to the forum. Research topics discussed specifically included (1) epilepsy in the developing brain; (2) novel targets for innovative diagnostics and treatment of epilepsy; (3) what is required for prevention and cure of epilepsy; and (4) epilepsy and comorbidities, with a special focus on aging and mental health. This report provides a summary of recommendations that emerged at ERF2013 about how to (1) strengthen epilepsy research, (2) reduce the treatment gap, and (3) reduce the burden and stigma associated with epilepsy. Half of the 6 million European citizens with epilepsy feel stigmatized and experience social exclusion, stressing the need for funding trans-European awareness campaigns and monitoring their impact on stigma, in line with the global commitment of the European Commission and with the recommendations made in the 2011 Written Declaration on Epilepsy. Epilepsy care has high rates of misdiagnosis and considerable variability in

  19. Single-Gene Determinants of Epilepsy Comorbidity.

    Science.gov (United States)

    Noebels, Jeffrey L

    2015-11-02

    Common somatic conditions are bound to occur by chance in individuals with neurological disorders as prevalent as epilepsy, but when biological links underlying the comorbidity can be uncovered, the relationship may provide clues into the origin and mechanisms of both. The expanding list of monogenic epilepsies and their associated clinical features offer a remarkable opportunity to mine the epilepsy genome for coordinate neurodevelopmental phenotypes and examine their pathogenic mechanisms. Defined single-gene-linked epilepsy syndromes identified to date include all of the most frequently cited comorbidities, such as cognitive disorders, autism, migraine, mood disorders, late-onset dementia, and even premature lethality. Gene-linked comorbidities may be aggravated by, or independent of, seizure history. Mutations in these genes establish clear biological links between abnormal neuronal synchronization and a variety of neurobehavioral disorders, and critically substantiate the definition of epilepsy as a complex spectrum disorder. Mapping the neural circuitry of epilepsy comorbidities and understanding their single-gene risk should substantially clarify this challenging aspect of clinical epilepsy management.

  20. Epilepsy and mortality in Latin America.

    Science.gov (United States)

    Escalaya, Alejandro L; Tellez-Zenteno, Jose F; Steven, David A; Burneo, Jorge G

    2015-02-01

    To assess the mortality related to epilepsy in Latin America. We searched MEDLINE, EMBASE, and LILACS from inception to December 2013 for articles evaluating mortality in patients with epilepsy in Latin America. Studies were included if they evaluated any mortality outcome, included a population of subjects with recurrent seizures or epilepsy, and contained original data analysis. The search strategy yielded 177 publications in MEDLINE and EMBASE, and 59 publications in LILACS; of which 18 met inclusion criteria for our overall review of epilepsy and mortality in Latin America. Most excluded studies did not report the mortality or lacked original data. We also included two references obtained from 2 non-systematic reviews fulfilling our inclusion criteria, and able to provide data for our analyses. Five studies reported Standardized Mortality Ratio (SMR), and demonstrated that people with epilepsy had a higher risk of death than the general population. The SMRs reported in two community-based studies were 1.34 and 2.45. The information about mortality in epilepsy in Latin America is very scarce. Comparisons cannot be made among studies due to methodological differences. More studies are needed. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  1. Psychological distress among patients with epilepsy

    Directory of Open Access Journals (Sweden)

    Asma Khalid

    2011-01-01

    Full Text Available Background: Epilepsy is a disorder of the brain characterized by recurrent seizures which are physical reactions to sudden, usually brief, too much electrical discharges in a group of brain cells. Psychological distress often accompanies epilepsy. It badly affects the disease and the treatment outcome. Whereas, familial social support is a positive factor. The objective of the present study was to see the difference of Psychological distress among the patients of Epilepsy; the comparisons on the variables of the study were made between gender, age, marital status, education, socio-economic status and type of Epilepsy. Materials and Methods: Sample comprised of 50 patients with epilepsy. These participants were divided into three subgroups according to their ages that are children, adolescence and adults. Patients were taken from hospitals Islamabad and Muzaffarabad (AJK. Results: The result showed that psychological distress is higher among male patients with generalized epilepsy and among those who are un-married, un-educated, having low socioeconomic status and lower familial social support. Conclusion: It can be concluded that psychological distress is common co morbidity in patients with epilepsy. During treatment, Counseling to the patients and the family can better help in coping with distress during their illness.

  2. Epilepsy, Cognition, and Behavior: The clinical picture

    Science.gov (United States)

    Berg, Anne T.

    2010-01-01

    Although epilepsy is defined by the occurrence of spontaneous epileptic seizures, a large body of evidence indicates that epilepsy is linked to a spectrum behavioral, psychiatric, and cognitive disorders as well as to sudden death. Explanations for these associations include: (1) The effects of structural lesions which may impair the functions subserved by the regions of the brain involved in the lesion. (2) The effects of seizure activity which may begin well before a clinical seizure occurs and may persist long after it is over raising questions about what truly constitutes “interictal.” In addition, encephalopathic effects of epilepsy in infancy during critical periods in development may be particularly severe and potentially irreversible. (3) Shared mechanisms underlying seizures as well as these other disorders in the absence of structural lesions or separate diseases of the CNS. Epidemiological and clinical studies demonstrate the elevated risk of cognitive, psychiatric, and behavioral disorders not just during but also prior to the onset of epilepsy (seizures) itself. These may outlast the active phase of epilepsy as well. The mounting evidence argues strongly for the recognition of epilepsy as part of a spectrum of disorders and against the notion that even uncomplicated epilepsy can a priori be considered benign. PMID:21214534

  3. Anxiety and Depression in Adolescents With Epilepsy.

    Science.gov (United States)

    Kwong, Karen Ling; Lam, David; Tsui, Sarah; Ngan, Mary; Tsang, Brian; Lai, Tai Sum; Lam, Siu Man

    2016-02-01

    The present study examined anxiety and depression in adolescents with epilepsy and the association of these disorders with seizure-related and sociodemographic variables. The Hospital Anxiety and Depression Scale was administered to 140 children with epilepsy and 50 children with asthma aged 10 to 18 years attending mainstream schools. Adolescents with epilepsy had significantly higher scores on the depression subscale than those with asthma (5.2 ± 3.3 vs 4.2 ± 3.2, P = .032). Anxiety subscale scores and the frequency of anxiety and depression in both the epilepsy and asthma groups were not statistically significant. In the epilepsy group, 32.8% had anxiety and 22.1% had depression. Factors associated with anxiety were older age at the time of the study and polytherapy (2 or more antiepileptic drugs). Adolescents who had been seizure-free for 12 months or more at time of the study were less likely to experience anxiety. Factors associated with depression were medical comorbidities, female gender, frequent seizures, and younger age of seizure onset. A common risk factor for both anxiety and depression was the duration of epilepsy. Anxiety and depression were also highly associated with each other. Affective disorders are common in epilepsy and screening for psychiatric symptoms is required.

  4. Towards the development of integrated epilepsy services: an audit of documented epilepsy care.

    LENUS (Irish Health Repository)

    Varley, J

    2011-11-17

    Effective chronic disease management (CDM) requires the ready availability and communication of accurate, clinical disease specific information. Using epilepsy as a probe into CDM, we report on the availability and reliability of clinical information in the primary care records of people with epilepsy (PWE). The medical records of 374 PWE from 53 general practices in the Mid-West region of Ireland were examined. Confirmation of an epilepsy diagnosis by a neurologist was documented for 132 (35%) patients. 282 (75%) patients had no documented evidence of receiving specialist neurology review while 149 (40%) had not been reviewed by their GP in the previous two years for their epilepsy. Significant variation in documentation of epilepsy specific information together with an inadequacy and inconsistency of existing epilepsy services was highlighted.

  5. Towards the development of integrated epilepsy services: an audit of documented epilepsy care.

    LENUS (Irish Health Repository)

    Varley, J

    2012-02-01

    Effective chronic disease management (CDM) requires the ready availability and communication of accurate, clinical disease specific information. Using epilepsy as a probe into CDM, we report on the availability and reliability of clinical information in the primary care records of people with epilepsy (PWE). The medical records of 374 PWE from 53 general practices in the Mid-West region of Ireland were examined. Confirmation of an epilepsy diagnosis by a neurologist was documented for 132 (35%) patients. 282 (75%) patients had no documented evidence of receiving specialist neurology review while 149 (40%) had not been reviewed by their GP in the previous two years for their epilepsy. Significant variation in documentation of epilepsy specific information together with an inadequacy and inconsistency of existing epilepsy services was highlighted.

  6. FTO, RNA epigenetics and epilepsy.

    Science.gov (United States)

    Rowles, Joie; Wong, Morgan; Powers, Ryan; Olsen, Mark

    2012-10-01

    Several recent landmark papers describing N(6) -methyladenosine (m(6) A) RNA modifications have provided valuable new insights as to the importance of m(6) A in the RNA transcriptome and in furthering the understanding of RNA epigenetics. One endogenous enzyme responsible for demethylating RNA m(6) A, FTO, is highly expressed in the CNS and is likely involved in mRNA metabolism, splicing or other nuclear RNA processing events. microRNAs (miRNAs), a family of small, non-coding transcripts that bind to target mRNAs and inhibit subsequent translation, are highly expressed in the CNS and are associated with several neurological disorders, including epilepsy. miRNAs frequently bind to recognition sequences in the 3'UTR, a region that is also enriched for m(6) A. Certain specific miRNAs are upregulated by neuronal activity and are coupled to epileptogenesis; these miRNAs contain a consensus m(6) A site that if methylated could possibly regulate miRNA processing or function. This commentary highlights aspects from recent papers to propose a functional association between FTO, RNA epigenetics and epilepsy.

  7. Risk factors of childhood epilepsy in Kerala

    Directory of Open Access Journals (Sweden)

    Thomas Varghese Attumalil

    2011-01-01

    Full Text Available Background: We aimed to identify the risk factors for epilepsy in children. Materials and Methods: This case-control retrospective study was carried out in the pediatric neurology outpatient service of the Trivandrum Medical College. All children (1-12 years with epilepsy satisfying the selection criteria were included, after obtaining consent from parents. Those with single seizures or febrile seizures were excluded. Controls were children without epilepsy attending the same hospital. Parents were interviewed and clinical data were obtained from medical records. Statistical analysis included chi-square test, odds ratio (OR, and logistic regression. Results: There were 82 cases and 160 controls whose mean age was 6.9 + 3.6 and 5.2 + 3.1, years respectively. On univariate analysis, family history of epilepsy, prolonged labor, cyanosis at birth, delayed cry after birth, admission to newborn intensive care unit, presence of congenital malformations, neurocutaneous markers, incessant cry in the first week, delayed developmental milestones, meningitis, encephalitis, and head trauma were found to be significant. On logistic regression, family history of epilepsy (OR 4.7, newborn distress (OR 8.6, delayed developmental milestones (OR 12.6, and head trauma (OR 5.8 were found to be significant predictors. Infants who had history of newborn distress are likely to manifest epilepsy before 1 year if they are eventually going to have epilepsy (OR 3.4. Conclusion: Modifiable factors such as newborn distress and significant head trauma are significant risk factors for childhood epilepsy. Newborn distress is a risk factor for early-onset (<1 year age epilepsy.

  8. 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

  9. Reduced Language Connectivity in Pediatric Epilepsy

    Science.gov (United States)

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

    2014-01-01

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

  10. Rub epilepsy: a somatosensory evoked reflex epilepsy induced by prolonged cutaneous stimulation

    OpenAIRE

    2001-01-01

    TO DELINEATE RUB EPILEPSY—a type of reflex epilepsy induced by prolonged or repetitive cutaneous stimulation in a circumscribed area of the body—three cases are presented, as well as one of tooth brushing epilepsy for comparison. In all three cases of rub epilepsy, cutaneous stimuli in a particular body area on the left side initially induced a sensory jacksonian march in the middle of, or in close vicinity to, the trigger zone, which led to subsequent unilateral tonic contr...

  11. Illness perception in Chinese adults with epilepsy.

    Science.gov (United States)

    Ji, Haixia; Zhang, Lei; Li, Lunlan; Gong, Guiping; Cao, Zhaolun; Zhang, Jianfeng; Zhou, Nong; Wang, Yu; Tu, Houmian; Wang, Kai

    2016-12-01

    Epilepsy is among the most common neurological disorders worldwide. Understanding the patient's subjective experience plays an important role in the treatment and rehabilitation of the patient. However, few studies are concerned about the illness perception of Chinese adults with epilepsy. 117 Chinese adults with epilepsy and 87 Chinese adults with chronic liver disease completed the Chinese version of the Revised Illness Perception Questionnaire (CIPQ-R). The Chinese epilepsy patients also completed the Social Support Rating Scale (SSRS) and Simplified Coping Style Questionnaire (SCSQ). A comparison about CIPQ-R score between the epilepsy group and chronic liver group was conducted using the independent sample t test. Partial correlation coefficients were calculated among the eight subscales of the CIPQ-R and its associated factors. Results for the CIPQ-R indicated that both the epilepsy patients and the chronic liver disease patients had a moderate belief in their personal control and treatment control over their disorder. Consistent with our hypothesis, patients with epilepsy and those with chronic liver disease perceived their respective disease similarly in terms of timeline and illness coherence. However, epilepsy patients had a higher negative emotional representations level than that we expected when compared to those of the patients suffering from chronic liver disease. Partial correlation analysis in Chinese epilepsy patients showed that the timeline acute/chronic dimension and emotional representations dimension were closely related to the other dimensions of illness perception. Moreover, the illness perception of the patients was significantly associated with social support, coping style, duration of epilepsy, seizure frequency, and the number of antiepileptic drugs. Chinese patients with epilepsy had limited understanding of the illness, and poor belief in personal control and treatment control. They had a negative emotional response to their illness

  12. Dostoevsky's epilepsy: a case report and comparison.

    Science.gov (United States)

    Morgan, H

    1990-06-01

    The Russian writer Dostoevsky (1821-1881) suffered from a rare form of temporal lobe epilepsy termed "ecstatic epilepsy." Dostoevsky used his epileptic experiences to create Prince Myshkin, the protagonist of The Idiot. The recent case of a patient who experienced ecstatic epilepsy as a result of a temporal lobe brain tumor is presented and compared with that of Prince Myshkin. Reading Dostoevsky can give the contemporary physician an insight into the inner life of an epileptic patient--an example of how art can directly benefit medical practice.

  13. Genetics of idiopathic generalized epilepsy: An overview

    Directory of Open Access Journals (Sweden)

    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.

  14. Contraceptive practices of women with epilepsy: Findings of the epilepsy birth control registry.

    Science.gov (United States)

    Herzog, Andrew G; Mandle, Hannah B; Cahill, Kaitlyn E; Fowler, Kristen M; Hauser, W Allen; Davis, Anne R

    2016-04-01

    To report the contraceptive practices of women with epilepsy (WWE) in the community, predictors of highly effective contraception use, and reasons WWE provide for the selection of a particular method. These cross-sectional data come from the Epilepsy Birth Control Registry (EBCR) web-based survey regarding the contraceptive practices of 1,144 WWE in the community, ages 18-47 years. We report demographic, epilepsy, and antiepileptic drug (AED) characteristics as well as contraceptive use. We determined the frequency of use of highly effective contraception use, that is, methods with failure rate Epilepsy.

  15. Managing Epilepsy Well: Emerging e-Tools for epilepsy self-management.

    Science.gov (United States)

    Shegog, Ross; Bamps, Yvan A; Patel, Archna; Kakacek, Jody; Escoffery, Cam; Johnson, Erica K; Ilozumba, Ukwuoma O

    2013-10-01

    The Managing Epilepsy Well (MEW) Network was established in 2007 by the Centers for Disease Control and Prevention Epilepsy Program to expand epilepsy self-management research. The network has employed collaborative research strategies to develop, test, and disseminate evidence-based, community-based, and e-Health interventions (e-Tools) for epilepsy self-management for people with epilepsy, caregivers, and health-care providers. Since its inception, MEW Network collaborators have conducted formative studies (n=7) investigating the potential of e-Health to support epilepsy self-management and intervention studies evaluating e-Tools (n=5). The MEW e-Tools (the MEW website, WebEase, UPLIFT, MINDSET, and PEARLS online training) and affiliated e-Tools (Texting 4 Control) are designed to complement self-management practices in each phase of the epilepsy care continuum. These tools exemplify a concerted research agenda, shared methodological principles and models for epilepsy self-management, and a communal knowledge base for implementing e-Health to improve quality of life for people with epilepsy.

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

    Science.gov (United States)

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

    2015-08-28

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

  17. Attitude toward epilepsy after media coverage of car accidents related to persons with epilepsy in Japan.

    Science.gov (United States)

    Okumura, Akihisa; Nakazawa, Mika; Abe, Shinpei; Shimizu, Toshiaki

    2013-04-01

    We compared the familiarity with and attitude toward epilepsy among nonmedical students before and after media coverage on car accidents related to persons with epilepsy in Japan. We have annually conducted a questionnaire survey on attitude toward epilepsy since 2008. We divided students into two groups: pre-accident era (years 2008-2010) and post-accident era (years 2011-2012). The rate of students who have read or heard about epilepsy was significantly higher in the post-accident era. Students in the post-accident era answered more frequently that they do not oppose the idea of their kids playing or attending school with children with epilepsy, they think that people with epilepsy should be hired in the same way as other people, and they do not oppose the idea of their children one day marrying a person with epilepsy. The results of our study show that media coverage of car accidents related to persons with epilepsy positively affected familiarity with and attitude toward epilepsy. Copyright © 2013 Elsevier Inc. All rights reserved.

  18. Primer Part 1-The building blocks of epilepsy genetics.

    Science.gov (United States)

    Helbig, Ingo; Heinzen, Erin L; Mefford, Heather C

    2016-06-01

    This is the first of a two-part primer on the genetics of the epilepsies within the Genetic Literacy Series of the Genetics Commission of the International League Against Epilepsy. In Part 1, we cover the foundations of epilepsy genetics including genetic epidemiology and the range of genetic variants that can affect the risk for developing epilepsy. We discuss various epidemiologic study designs that have been applied to the genetics of the epilepsies including population studies, which provide compelling evidence for a strong genetic contribution in many epilepsies. We discuss genetic risk factors varying in size, frequency, inheritance pattern, effect size, and phenotypic specificity, and provide examples of how genetic risk factors within the various categories increase the risk for epilepsy. We end by highlighting trends in epilepsy genetics including the increasing use of massive parallel sequencing technologies. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

  19. Dental students' knowledge and attitudes toward patients with epilepsy.

    Science.gov (United States)

    Hassona, Yazan M; Mahmoud, Ahmad Abd Al-Aziz; Ryalat, Soukaina M; Sawair, Faleh A

    2014-07-01

    Inadequate knowledge and negative attitudes toward epilepsy can affect the provision of health services for patients with epilepsy. The aim of the present study was to assess the knowledge and attitudes toward epilepsy among clinical dental students in Jordan. The study was conducted using a 21-item questionnaire to assess professional experience with epilepsy, knowledge about epilepsy, social tolerance, and willingness to care for patients with epilepsy among dental students at the University of Jordan. More than one-third of dental students believed that epilepsy is due to insanity or mental illness. Only 45% were able to identify convulsion or shaking as a sign of epilepsy, and more than one-third did not know how to act in case of an epileptic seizure in the dental clinic. Disappointingly, 43.4% of the respondents were of the opinion that people with epilepsy should not have children, and only 38.6% thought that people with epilepsy should be employed at the same jobs as other people. About 50% indicated that their families would be concerned about them treating patients with epilepsy, and 30% believed that knowing that patients with epilepsy were treated in their clinic might make other patients reluctant to continue their treatment there. The results revealed an inadequate level of knowledge and negative attitudes toward epilepsy among dental students at the University of Jordan. There is an urgent need to educate dental students about epilepsy. Copyright © 2014 Elsevier Inc. All rights reserved.

  20. Impact of Epilepsy Surgery on Motor Performance

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2005-07-01

    Full Text Available The impact of epilepsy surgery on motor performance of 37 children (ages 1 month to 15 years with refractory seizures was evaluated at the Wilhelmina University Children's Hospital, Utrecht, The Netherlands.

  1. Epilepsy Surgery for Individuals with TSC

    Science.gov (United States)

    ... FG, Chen N, Zhang JG (2013) Predictors of seizure freedom after surgical management of tuberous sclerosis complex: A systematic review and meta-analysis. Epilepsy Res. 105(3):377-83. Fallah A, Guyatt ...

  2. A variant of idiopathic epilepsy: Clinical note

    Directory of Open Access Journals (Sweden)

    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. 

  3. Epidemiology of absence epilepsy. III. Clinical aspects.

    Science.gov (United States)

    Olsson, I; Hagberg, G

    1991-11-01

    Absence epilepsy was studied in a Swedish population, aged 0-15 years, in 1978-1982. Cases were selected by electroencephalographic criteria. In the 134 children with 3 Hz spike-and-wave discharges, 97 (72.4%) had absences alone or in combination with generalized tonic-clonic seizures (grand mal): 56 had absences alone, 31 absences followed by grand mal, and 10 started with initial grand mal. Two distinct groups could be discerned: 1) childhood absence epilepsy: onset before the age of 12, with a quick response to therapy, little or no risk of grand mal, and a high remission rate; 2) juvenile absence epilepsy: onset at the age of 12 or later, a very high risk of grand mal, and usually a good response to therapy, but a high risk of relapses at withdrawal. This classification of absence epilepsy into subgroups may be useful for prognostic guidelines.

  4. Autosomal dominant rolandic epilepsy with speech dyspraxia.

    Science.gov (United States)

    Scheffer, I E

    2000-01-01

    Autosomal Dominant Rolandic Epilepsy with Speech Dyspraxia (ADRESD) is a rare disorder which highlights the relationship between Benign Rolandic Epilepsy (BRE) and speech and language disorders. Subtle speech and language disorders have recently been well characterised in BRE. ADRESD is associated with long term, more severe speech and language difficulties. The time course of rolandic epilepsy in ADRESD is typical of that of BRE. ADRESD is inherited in an autosomal dominant manner with anticipation. It is postulated that the anticipation may be due to an, as yet unidentified, triplet repeat expansion in a gene for rolandic epilepsy. BRE follows complex inheritance but it is possible that ADRESD may hold some valuable clues to the pathogenesis of BRE.

  5. Sexual dysfunction in women with epilepsy.

    Science.gov (United States)

    Harden, Cynthia L

    2008-03-01

    Sexual dysfunction in women with epilepsy (WWE) is an important comorbidity. A significant minority of WWE have markedly decreased sexual interest and it appears that orgasmic dysfunction occurs more frequently in WWE than in control women. Enzyme-inducing antiepileptic drugs can adversely affect sexual functioning by decreasing bioactive testosterone levels. Temporal lobe epilepsy of right-sided versus left-sided origin may also be a risk factor for sexual dysfunction. In addition to these factors, emerging evidence suggests that the serotonin transporter protein is related to temporal lobe epilepsy and it is postulated that this transporter may play a role in altered sexual functioning in epilepsy, perhaps through the serotonergic effects of antiepileptic drugs (AEDs). Strategies for modifying the contributors to sexual dysfunction in WWE will be discussed as well as the role of the neurologist in initiating management of this challenging comorbidity.

  6. Characteristics of headache in children with epilepsy

    National Research Council Canada - National Science Library

    Kanemura, Hideaki; Sano, Fumikazu; Ishii, Sayaka; Ohyama, Tetsuo; Sugita, Kanji; Aihara, Masao

    2013-01-01

    .... The purpose of this prospective study was to evaluate the types and frequency of seizure-associated headaches among pediatric patients with epilepsy, and to identify their risk factors with special...

  7. Ictal Epileptic Headache with Idiopathic Epilepsy

    OpenAIRE

    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.

  8. [Epilepsy pharmacogenetics : science or fiction?].

    Science.gov (United States)

    Depondt, Chantal

    2013-02-01

    Pharmacogenetics (PGX) is the study of how genetic variants influence individual responses to drugs. Although numerous candidate gene studies in epilepsy PGX have been published, to date only two validated associations exist: the association of the *2 and *3 alleles of CYP2C9 with phenytoin metabolism and the association of HLA-B*1502 with serious hypersensitivity reactions to carbamazepine. The advent of novel technologies such as genomewide association studies and next generation sequencing will likely lead to the identification of additional genetic biomarkers. The potential benefits of epilepsy PGX are multiple: epilepsy treatment in individual patients would become more rationalized, clinical trials could be stratified according to patients' genetic profiles and novel therapeutic pathways may be uncovered. Ultimately, it is hoped that PGX will improve the quality of life for people suffering from epilepsy worldwide.

  9. Numeracy and framing bias in epilepsy.

    Science.gov (United States)

    Choi, Hyunmi; Wong, John B; Mendiratta, Anil; Heiman, Gary A; Hamberger, Marla J

    2011-01-01

    Patients with epilepsy are frequently confronted with complex treatment decisions. Communicating treatment risks is often difficult because patients may have difficulty with basic statistical concepts (i.e., low numeracy) or might misconceive the statistical information based on the way information is presented, a phenomenon known as "framing bias." We assessed numeracy and framing bias in 95 adults with chronic epilepsy and explored cognitive correlates of framing bias. Compared with normal controls, patients with epilepsy had significantly poorer performance on the Numeracy scale (P=0.02), despite a higher level of education than normal controls (Pframing bias. Abstract problem solving performance correlated with the degree of framing bias (r=0.631, Pframing bias. Poor numeracy and susceptibility framing bias place patients with epilepsy at risk for uninformed decisions.

  10. Oromotor Dyspraxia in Benign Childhood Epilepsy

    OpenAIRE

    J Gordon Millichap

    1989-01-01

    A six year old right handed boy with prolonged intermittent drooling, oromotor dyspraxia, and benign childhood epilepsy with centrotemporal spikes is reported from the Departments of Pediatrics and Neurology, Centre Hospitalier, Universitaire Vaudois, Lausanne, Switzerland.

  11. Cerebellar Involvement in Ataxia and Generalized Epilepsy

    NARCIS (Netherlands)

    L. Kros (Lieke)

    2015-01-01

    markdownabstract__Abstract__ The work described in this thesis was performed in order to elucidate the role of different cerebellar modules in ataxia and generalized epilepsy using various techniques including in vivo electrophysiology, optogenetics, pharmacological interventions, immunohistology a

  12. Cost of epilepsy: a systematic review.

    Science.gov (United States)

    Strzelczyk, Adam; Reese, Jens Peter; Dodel, Richard; Hamer, Hajo M

    2008-01-01

    The objective of this review was to overview published cost-of-illness (COI) studies of epilepsy and their methodological approaches. Epilepsy imposes a substantial burden on individuals and society as a whole. The mean prevalence of epilepsy is estimated at 0.52% in Europe, 0.68% in the US, and peaks up to 1.5% in developing countries. Estimation of the economic burden of epilepsy is of pivotal relevance to enable a rational distribution of healthcare resources. This is especially so with the introduction of the newer antiepileptic drugs (AEDs), the marketing of vagal-nerve stimulators and the resurgence of new surgical treatment options, which have the potential to considerably increase the costs of treating epilepsy.A systematic literature review was performed to identify studies that evaluated direct and indirect costs of epilepsy. Using a standardized assessment form, information on the study design, methodological framework and data sources were extracted from each publication and systematically reported. We identified 22 studies worldwide on costs of epilepsy. The majority of the studies reflected the costs of epilepsy in Europe (three studies each for the UK and Italy, one study each for Germany, the Netherlands, Switzerland, France and the EU) and the US (four studies), but studies were also available from India (two), Hong Kong, Oman, Burundi, Chile and Mexico. The studies utilized different frameworks to evaluate costs. All used a bottom-up approach; however, only 12 studies (55%) evaluated direct as well as indirect costs. The range for the mean annual direct costs lay between 40 International Dollar purchasing power parities (PPP-$) in rural Burundi and PPP-$4748 (adjusted to 2006 values) in a German epilepsy centre. Recent studies suggest AEDs are becoming the main contributor to direct costs. The mean indirect costs ranged between 12% and 85% of the total annual costs. Epilepsy is a cost-intensive disorder. A reliable comparison of the different COI

  13. Sydney epilepsy incidence study to measure illness consequences: the SESIMIC observational epilepsy study protocol

    Directory of Open Access Journals (Sweden)

    Jan Stephen

    2011-01-01

    Full Text Available Abstract Background Epilepsy affects an estimated 50 million people and accounts for approximately 1% of days lost to ill health globally, making it one of the most common, serious neurological disorders. While there are abundant global data on epilepsy incidence, prevalence and treatment, there is a paucity of Australian incidence data. There is also a general lack of information on the psychosocial impact and socioeconomic consequences of a new diagnosis of epilepsy on an individual, their family, household, and community which are often specific to the health and social system of each country. Methods/Design The Sydney Epilepsy Incidence Study to Measure Illness Consequences (SEISMIC is an Australian population-based epilepsy incidence and outcome study that will recruit every newly diagnosed case of epilepsy in the Sydney South West Area Health Service to an epilepsy register. Multiple and overlapping sources of notification will be used to identify all new cases of epilepsy over a 24 month period in the Eastern Zone of the Sydney South West Area Health Service (SSWAHS and follow up will occur over 12 months. SEISMIC will use the International League Against Epilepsy (ILAE definitions and classifications for epidemiologic studies of epilepsy. The study will examine outcomes including mood, quality of life, employment, education performance, driving status, marital and social problems, medication use, health care usage, costs and stigma. Discussion This study is designed to examine how clinical, psychological factors, socioeconomic circumstances, and healthcare delivery influence the experience of epilepsy for individuals and families allowing better targeting of specific services and informing policy makers and practitioners. In addition, the study will provide the basis for a longitudinal population-based cohort study and potentially inform qualitative sub-studies and randomised controlled trials of intervention strategies. The study has

  14. Advances of molecular imaging in epilepsy

    OpenAIRE

    Galovic, M.; Koepp, M.

    2016-01-01

    Positron emission tomography (PET) is a neuroimaging method that offers insights into the molecular functioning of a human brain. It has been widely used to study metabolic and neurotransmitter abnormalities in people with epilepsy. This article reviews the development of several PET radioligands and their application in studying the molecular mechanisms of epilepsy. Over the last decade, tracers binding to serotonin and γ-aminobutyric acid (GABA) receptors have been used to delineate the loc...

  15. Advances of Molecular Imaging in Epilepsy

    OpenAIRE

    Galovic, Marian; Koepp, Matthias

    2016-01-01

    Positron emission tomography (PET) is a neuroimaging method that offers insights into the molecular functioning of a human brain. It has been widely used to study metabolic and neurotransmitter abnormalities in people with epilepsy. This article reviews the development of several PET radioligands and their application in studying the molecular mechanisms of epilepsy. Over the last decade, tracers binding to serotonin and γ-aminobutyric acid (GABA) receptors have been used to delineate the loc...

  16. [The ecstatic epilepsy of Teresa of Jesus].

    Science.gov (United States)

    Garcia Albea, E

    Our aim is to define the ecstasies (raptures) of Teresa de Ahumada (Teresa of Jesus) and to link them with ecstasies recently identified as convulsive seizures (Dostoevsky s epilepsy, Saint Paul s disease, ecstatic epilepsy). We review the Carmelite nun's pathography, with special attention given to the excellent detailed descriptions of her ecstasies. The stereotypic movements and comparison with similar cases leads us to consider them as being epileptic, possibly secondary to neurocysticercosis.

  17. Animal models of epilepsy: use and limitations

    Directory of Open Access Journals (Sweden)

    Kandratavicius L

    2014-09-01

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

  18. Epilepsy during pregnancy: focus on management strategies

    OpenAIRE

    Borgelt LM; Hart FM; Bainbridge JL

    2016-01-01

    Laura M Borgelt,1 Felecia M Hart,2 Jacquelyn L Bainbridge2 1Departments of Clinical Pharmacy and Family Medicine, 2Departments of Clinical Pharmacy and Neurology, University of Colorado Anschutz Medical Campus, Skaggs School of Pharmacy and Pharmaceutical Sciences, Aurora, CO, USA Abstract: In the US, more than one million women with epilepsy are of childbearing age and have over 20,000 babies each year. Patients with epilepsy who become pregnant are at risk of complications, including chan...

  19. Juvenile myoclonic epilepsy: clinical and EEG features

    DEFF Research Database (Denmark)

    Pedersen, S B; Petersen, K A

    1998-01-01

    We aimed to characterize the clinical profile and EEG features of 43 patients with juvenile myoclonic epilepsy. In a retrospective design we studied the records of, and re-interviewed, 43 patients diagnosed with JME from the epilepsy clinic data base. Furthermore, available EEGs were re-evaluated...... were sleep deprivation (84%), stress (70%), and alcohol consumption (51%). EEG findings included rapid spike-wave and polyspike-wave....

  20. [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.