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- W1969133760 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 <i>SCN1A</i> and one in <i>GABRG2</i>." @default.
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- W1969133760 date "2006-12-26" @default.
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- W1969133760 title "Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults" @default.
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- W1969133760 doi "https://doi.org/10.1212/01.wnl.0000249312.73155.7d" @default.
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