Article
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults.
Neurology - 26 Dec 2006
Jansen F E, Sadleir L G, Harkin L A, Vadlamudi L, McMahon J M, Mulley J C, Scheffer I E, Berkovic S F
Abstract excerpt
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...
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