title: Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults.
abstract: Establishing an etiologic diagnosis in adults with refractory epilepsy and intellectual disability is challenging. We analyzed the phenotype of 14 adults with severe myoclonic epilepsy of infancy. This phenotype comprised heterogeneous seizure types with nocturnal generalized tonic-clonic seizures predominating, mild to severe intellectual disability, and variable motor abnormalities. The diagnosis was suggested by a characteristic evolution of clinical findings in the first years of life. Ten had mutations in SCN1A and one in GABRG2.
authors.affiliation: Epilepsy Research Centre, Department of Medicine, University of Melbourne, Australia.
authors.forename: F E
authors.initials: FE
authors.lastname: Jansen
authors.forename: L G
authors.initials: LG
authors.lastname: Sadleir
authors.forename: L A
authors.initials: LA
authors.lastname: Harkin
authors.forename: L
authors.initials: L
authors.lastname: Vadlamudi
authors.forename: J M
authors.initials: JM
authors.lastname: McMahon
authors.forename: J C
authors.initials: JC
authors.lastname: Mulley
authors.forename: I E
authors.initials: IE
authors.lastname: Scheffer
authors.forename: S F
authors.initials: SF
authors.lastname: Berkovic
mesh_terms: D000293:Adolescent; D000328:Adult; D003937:Diagnosis, Differential; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels