TANGO With SCN1A: Can This Molecular Dance Defeat 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 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 کاملNot all SCN1A epileptic encephalopathies are Dravet syndrome
OBJECTIVE To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. METHODS A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation. RESULTS We identified 9 children 3 to 12 years of age; 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic s...
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 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...
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ژورنال
عنوان ژورنال: Epilepsy Currents
سال: 2020
ISSN: 1535-7597,1535-7511
DOI: 10.1177/1535759720975750