Article
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.
Pediatric neurology - 1 Apr 2004
Ceulemans Berten P G M, Claes Lieve R F, Lagae Lieven G
Abstract excerpt
Mutations in the alpha-subunit of the first neuronal sodium channel gene SCN1A have been described in isolated patients with severe myoclonic epilepsy in infancy or Dravet syndrome and in families with generalized epilepsy with febrile seizures plus. To find phenotype/genotype correlations, we re...
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