Article
SCN1A-related phenotypes: Epilepsy and beyond.
Epilepsia - 1 Dec 2019
Scheffer Ingrid E, Nabbout Rima
Abstract excerpt
SCN1A, encoding the alpha 1 subunit of the sodium channel, is associated with several epilepsy syndromes and a range of other diseases. SCN1A represents the archetypal channelopathy associated with a wide phenotypic spectrum of epilepsies ranging from genetic epilepsy with febrile seizures plus (GEFS+), to developmental and epileptic encephalopathies (DEEs). SCN1A disorders also result in other diseases such as...
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