Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults
2006; Lippincott Williams & Wilkins; Volume: 67; Issue: 12 Linguagem: Inglês
10.1212/01.wnl.0000249312.73155.7d
ISSN1526-632X
AutoresFloor E. Jansen, Lynette G. Sadleir, Louise A. Harkin, Lata Vadlamudi, Jacinta M. McMahon, John C. Mulley, Ingrid E. Scheffer, Samuel F. Berkovic,
Tópico(s)Glycogen Storage Diseases and Myoclonus
ResumoEstablishing 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 .
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