Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+ 2
Nature genetics, 2000•nature.com
Generalized epilepsy with febrile seizures plus type 2 (GEFS+ 2, MIM 604233) is an
autosomal dominant disorder characterized by febrile seizures in children and afebrile
seizures in adults. We describe here two mutations of the gene encoding the neuronal
voltage-gated sodium channel (SCN1A), Thr875Met and Arg1648His, that co-segregate with
the disorder in two families with GEFS+ linked to chromosome 2q. These mutations identify a
new disease gene for human inherited epilepsy.
autosomal dominant disorder characterized by febrile seizures in children and afebrile
seizures in adults. We describe here two mutations of the gene encoding the neuronal
voltage-gated sodium channel (SCN1A), Thr875Met and Arg1648His, that co-segregate with
the disorder in two families with GEFS+ linked to chromosome 2q. These mutations identify a
new disease gene for human inherited epilepsy.
Abstract
Generalized epilepsy with febrile seizures plus type 2 (GEFS+ 2, MIM 604233) is an autosomal dominant disorder characterized by febrile seizures in children and afebrile seizures in adults. We describe here two mutations of the gene encoding the neuronal voltage-gated sodium channel (SCN1A), Thr875Met and Arg1648His, that co-segregate with the disorder in two families with GEFS+ linked to chromosome 2q. These mutations identify a new disease gene for human inherited epilepsy.
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