Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

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 chi...

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Veröffentlicht in:	Neurology 2017-09, Vol.89 (10), p.1035-1042
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Age of Onset Brain - diagnostic imaging Brain - physiopathology Child Child, Preschool Developmental Disabilities - diagnostic imaging Developmental Disabilities - genetics Developmental Disabilities - physiopathology Epilepsies, Myoclonic - genetics Epilepsies, Myoclonic - physiopathology Epilepsy - diagnostic imaging Epilepsy - genetics Epilepsy - physiopathology Female Humans Hyperkinesis - diagnostic imaging Hyperkinesis - genetics Hyperkinesis - physiopathology Male Mutation, Missense NAV1.1 Voltage-Gated Sodium Channel - genetics Phenotype
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