Ontology highlight
ABSTRACT:
SUBMITTER: Wallace RH
PROVIDER: S-EPMC1275639 | biostudies-literature | 2001 Apr
REPOSITORIES: biostudies-literature
Wallace R H RH Scheffer I E IE Barnett S S Richards M M Dibbens L L Desai R R RR Lerman-Sagie T T Lev D D Mazarib A A Brand N N Ben-Zeev B B Goikhman I I Singh R R Kremmidiotis G G Gardner A A Sutherland G R GR George A L AL Mulley J C JC Berkovic S F SF
American journal of human genetics 20010313 4
Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by the presence of febrile and afebrile seizures. The first gene, GEFS1, was mapped to chromosome 19q and was identified as the sodium-channel beta1-subunit, SCN1B. A second locus on chromosome 2q, GEFS2, was recently identified as the sodium-channel alpha1-subunit, SCN1A. Single-stranded conformation analysis (SSCA) of SCN1A was performed in 53 unrelated index cases to estimate the frequency of ...[more]