Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults

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 p...

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Bibliographic Details
Published inNeurology Vol. 67; no. 12; p. 2224
Main Authors Jansen, F E, Sadleir, L G, Harkin, L A, Vadlamudi, L, McMahon, J M, Mulley, J C, Scheffer, I E, Berkovic, S F
Format Journal Article
LanguageEnglish
Published United States 26.12.2006
Subjects
Adolescent
Adult
Diagnosis, Differential
Epilepsies, Myoclonic - diagnosis
Epilepsies, Myoclonic - genetics
Female
Genetic Predisposition to Disease - genetics
Genetic Testing - methods
Humans
Male
Middle Aged
Mutation
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins - genetics
Phenotype
Sodium Channels - genetics
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Summary: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.
ISSN:1526-632X
DOI:10.1212/01.wnl.0000249312.73155.7d