|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|812||16||c.2948T>C||p.Val983Ala||DIIS6||Missense||N→N (64); pLOF||ICEGTC||De novo||Fujiwara T.2003|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|23||c.2948T>C||p.Val983Ala(V983A)||DIIS6||ICEGTC||pLOF||Reduced current density, hypoexcitable (positive) shift of activation, reduced channel availability by negative shift of inactivation and positive shift of activation. Possible increased channel availability suggested by delayed onset and faster recovery of slow inactivation (less direct).||Rhodes TH.2005|
|[c.2948T>C] Clinical description|
The first seizure of the male patient, 21-years-old, was presented with hemiclonic seizures at the age of three months. Thereafter the patient occurred other seizures including complex partial seizures at the age of 2 years, and generalized tonic clonic seizures with daily after the age of one year. The patient had severe mental decline, ataxia and pyramidal sign. His maternal cousin had febrile convulsion. The CT scan was normal and the electroencephalogram analysis showed multifocal spikes(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.