Article
Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine.
Pediatric neurology - 1 Jan 2017
Foster Laura A, Johnson Maria R, MacDonald John T, Karachunski Peter I, Henry Thomas R, Nascene David R, Moran Brian P, Raymond Gerald V
Abstract excerpt
BACKGROUND: Genetic alterations are significant causes of epilepsy syndromes; especially early-onset epileptic encephalopathies and voltage-gated sodium channelopathies are among the best described. Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with benign familial neonatal-infantile seizures, generalized epilepsy febrile seizures plus, and an early-onset infantile epileptic...
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