SCN1A mutations in Dravet syndrome: Impact of interneuron dysfunction on neural networks and cognitive outcome
نویسندگان
چکیده
منابع مشابه
Dravet syndrome: a new causative SCN1A mutation?
Dravet syndrome is often caused by SCN1A mutations and has a wide variation in clinical appearance. Indication for genetic analysis should be an epileptic encephalopathy or severe clinical course of seizures in infants with episodes of fever before the first year of life.
متن کاملIdentification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome
BACKGROUND Dravet syndrome is a severe form of epilepsy. Majority of patients have a mutation in SCN1A gene, which encodes a voltage-gated sodium channel. A recent study has demonstrated that 16% of SCN1A-negative patients have a mutation in PCDH19, the gene encoding protocadherin-19. Mutations in other genes account for only a very small proportion of families. TSPYL4 is a novel candidate gene...
متن کاملClinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.
OBJECTIVE To explore the prognostic value of initial clinical and mutational findings in infants with SCN1A mutations. METHODS Combining sex, age/fever at first seizure, family history of epilepsy, EEG, and mutation type, we analyzed the accuracy of significant associations in predicting Dravet syndrome vs milder outcomes in 182 mutation carriers ascertained after seizure onset. To assess the...
متن کاملEfficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
BACKGROUND AND PURPOSE The aim of this study was to determine the effectiveness of stiripentol (STP) add-on therapy to valproate and clobazam in patients with Dravet syndrome (DS) according to the presence of mutations in the sodium channel alpha-1 subunit gene (SCN1A). METHODS We performed direct sequencing to analyze SCN1A mutations in 32 patients with clinically confirmed with DS, and clas...
متن کاملDravet syndrome: Patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects
PURPOSE To review our cohort of patients with Dravet syndrome and determine if patients with SCN1A mutations can also express mitochondrial disease due to electron transport chain dysfunction. METHODS A retrospective chart review was used to describe clinical manifestations and retrieve biochemical testing, neuroimaging, gene sequencing, and electroencephalographic results of patients express...
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ژورنال
عنوان ژورنال: Epilepsy & Behavior
سال: 2012
ISSN: 1525-5050
DOI: 10.1016/j.yebeh.2011.11.022