|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|1438||26||c.4894C>T||p.Pro1632Ser||DIVS3-S4||Missense||N→P/O (74); G-LOF||ICEGTC||NA||Fujiwara T.2003|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|36||c.4894C>T||p.Pro1632Ser(P1632S)||DIVS3-S4||ICEGTC||G-LOF||Moderate persistent current. Reduced window current (channel availability) by greater negative shift of inactivation than the negative shift of activation, reduced channel availability by greater delaying in recovery than in onset of slow inactivation.||Rhodes TH.2005|
|[c.4894C>T] Clinical description|
The first seizure of the male patient, 18-years-old, was presented with hemiclonic seizures at the age of three months. Thereafter the patent occurred other seizures including complex partial seizures from one to 17 years old, and GTCS with weekly after the age of three months. The patient had severe mental decline. There had no familial history of FS or epilepsies. The CT wasn't done, and the electroencephalogram analysis showed no epileptic paroxysms(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.