|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|1650||26||c.5422T>C||p.Phe1808Leu||C-terminal||Missense||N→N (22); G-LOF||ICEGTC||NA||Fujiwara T.2003|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|49||c.5422T>C||p.Phe1808Leu(F1808L)||C-terminal||ICEGTC||G-LOF||Big persistent current. Reduced current density, reduced window current (channel availability) by greater negative shift of inactivation than the negative shift of activation.||Rhodes TH.2005|
|[c.5422T>C] Clinical description|
The first seizure of the female patient, 25-years-old, was presented with generalized tonic-clonic seizures (GTCS) at the age of 11 months. Thereafter the patent have only GTCS with yearly. The patient had moderate mental decline, ataxia and left hemiparesis . There had no familial history of FS or epilepsies. The CT was normal, and the electroencephalogram analysis showed spikes in left frontal-temporal region and spike-wave complex(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. ).
Copyright ©2014 Institute of Neuroscience and The Second Affiliated Hospital of Guangzhou Medical University
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.