Article
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.
Neurology - 5 Sept 2017
Sadleir Lynette G, Mountier Emily I, Gill Deepak, Davis Suzanne, Joshi Charuta, DeVile Catherine, Kurian Manju A, Mandelstam Simone, Wirrell Elaine, Nickels Katherine C, Murali Hema R, Carvill Gemma, Myers Candace T, Mefford Heather C, Scheffer Ingrid E
Abstract excerpt
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 seizures, bilateral...
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