نتایج جستجو برای: scn1a mutations
تعداد نتایج: 173129 فیلتر نتایج به سال:
In this issue of Brain, Brunklaus et al. report a study of 241 patients with Dravet syndrome carrying a SCN1A mutation, with the aim of identifying predictors of developmental outcome and determining specific clinical and demographic characteristics. The electroclinical features of a large cohort were collected and analysed prior to genetic testing. A total of 355 patients were diagnosed with D...
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
Epilepsy comprises several syndromes, amongst the most common being mesial temporal lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with hippocampal sclerosis are typically drug-resistant, and mesial temporal lobe epilepsy with hippocampal sclerosis is frequently associated with important co-morbidities, mandating the search for better understanding and treat...
Familial hemiplegic migraine (FHM) is a rare type of migraine with aura. Mutations in three genes have been described in FHM patients: CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). We screened 27 Spanish patients with hemiplegic migraine (HM), basilar-type migraine or childhood periodic syndromes (CPS) for mutations in these three genes. Two novel CACNA1A variants, p.Val581Met and p.Tyr1245Cy...
Dravet syndrome (also known as Severe Myoclonic Epilepsy of Infancy) is a rare genetic epilepsy syndrome commonly associated with loss-of-function mutations in SCN1A, the gene encoding the α subunit of the voltage-gated sodium channel NaV1.1, resulting in haploinsufficiency. Like other voltage-gated sodium channels, NaV1.1 function contributes to the rising phase of the neuronal action potentia...
We study compact non-supersymmetric Z N orbifolds in various dimensions. We compute the spectrum of several tachyonic type II and heterotic examples and partially classify tachyon-free heterotic models. We also discuss the relation to compactification on K3 and Calabi-Yau manifolds.
Familial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with aura. This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes. The aim of this study was to identify whether CACNA1A and ATP1A2 are or not related to Brazilian FHM. Here we screened four Brazilian FHM families (total of 26 individuals--13 affected and 13 asymptomatic or normal)...
PURPOSE To identify clinical risk factors for Dravet syndrome (DS) in a population of children with status epilepticus (SE). MATERIAL AND METHODS Children aged between 1 month and 16 years with at least one episode of SE were referred from 6 pediatric neurology centers in Switzerland. SE was defined as a clinical seizure lasting for more than 30min without recovery of normal consciousness. Th...
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