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Article

Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.

Neuroscience letters - 23 Aug 2010

Li Nan, Zhang Jie, Guo Ji-feng, Yan Xin-xiang, Xia Kun, Tang Bei-sha

Abstract excerpt

Generalized epilepsy with febrile seizures plus (GEFS+) is an epileptic syndrome inherited in autosomal dominant mode. Of all the identified causative GEFS+ genes, voltage-gated sodium channel alpha1 subunit gene (SCN1A) is the most clinically relevant one. We describe here the clinical and molecular characterization of a GEFS+ family. A novel heterozygous mutation c.5383G>A was revealed by direct sequencing of...

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PMID: 20600615
DOI: 10.1016/j.neulet.2010.06.040

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