期刊
NEUROLOGY
卷 57, 期 4, 页码 703-705出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.57.4.703
关键词
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Recent evidence has suggested that the neuronal voltage-gated sodium channel alpha (1)-subunit gene (Na(v)1.1: SCN1A) is responsible for generalized epilepsy with febrile seizures plus (GEFS+2). Here the authors report two novel disease mutations of Na(v)1.1 in patients with febrile seizures associated with afebrile partial seizures. One is a Val1428Ala substitution in the pore-forming region, and the other is Ala1685Val in the transmembrane helix. These results support the previous findings and contribute to the reliable diagnosis of epilepsy.
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