Article
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.
Neurology - 14 May 2002
Wallace R H, Scheffer I E, Parasivam G, Barnett S, Wallace G B, Sutherland G R, Berkovic S F, Mulley J C
Abstract excerpt
Generalized epilepsy with febrile seizures plus (GEFS(+)) is an important childhood genetic epilepsy syndrome with heterogeneous phenotypes, including febrile seizures (FS) and generalized epilepsies of variable severity. Forty unrelated GEFS(+) and FS patients were screened for mutations in the sodium channel beta-subunits SCN1B and SCN2B, and the second GEFS(+) family with an SCN1B mutation is described here....
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