Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations
نویسندگان
چکیده
منابع مشابه
Clinical 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 کاملDravet 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 کاملSCN1A mutational analysis in Korean patients with Dravet syndrome
OBJECTIVE The aim of this study was to characterize the SCN1A mutation spectrum in Korean patients with Dravet syndrome. METHODS Twenty-nine patients diagnosed with Dravet syndrome at the Seoul National University Children's Hospital were included in the study. Direct sequencing and multiplex ligation-dependent probe amplification (MLPA) were used to identify SCN1A mutations. Mutations were c...
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: Neurology
سال: 2017
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000003716