A novel variant in SCN1A gene associated with Dravet syndrome
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 کامل[De novo SCN1A gene deletion in therapy-resistant Dravet syndrome].
Severe myoclonic epilepsy in infancy (Dravet's syndrome) is a very rare form of epilepsy. Mutations of SCN1A gene encoding voltage-gated sodium channel alpha-1 subunit are major causes of the autosomal dominant disorder. Most cases are associated with a de novo point mutation, but some patients have copy number variations. The protein encoded by the SCN1A gene plays a role in the generation and...
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 کاملSCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome
BACKGROUND AND PURPOSE Dravet syndrome is a rare and severe type of epilepsy in infants. The heterogeneity in the overall intellectual disability that these patients suffer from has been attributed to differences in genetic background and epilepsy severity. METHODS Eighteen Vietnamese children diagnosed with Dravet syndrome were included in this study. SCN1A variants were screened by direct s...
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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Seizure
سال: 2019
ISSN: 1059-1311
DOI: 10.1016/j.seizure.2019.05.003