|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|795||15||c.2935G>A||p.Gly979Arg||DIIS6||Missense||N→P/﹢(125); LOF||ICEGTC||NA||Fujiwara T.2003|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|22||c.2935G>A||p.Gly979Arg(G979R)||DIIS6||ICEGTC||LOF||No measurable sodium current.||Rhodes TH.2005; Sugawara T.2003|
|[c.2935G>A] Clinical description|
The first seizure of the male patient, 19-years-old, was presented with hemiclonic seizures at the age of four months. Thereafter the patient occurred other seizures including complex partial seizures from seven to seventeen years, and GTCS with monthly after the age of seven months. The patient had severe mental decline. His sister had Down's syndrome, and his maternal cousin had epilepsy. The CT scan was normal and the electroencephalogram analysis showed bilateral frontal sharp wave and spike-wave complex(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. ).
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Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China
Collaborative Innovation Center for Neurogenetics and Channelopathies, Guangzhou 510260, China.