|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|11||c.2422A>T||p.Thr808Ser(T808S)||DIIS2||ICEGTC||IE||Increased current density, delayed both onset and recovery from slow inactivation.||Rhodes TH.2005|
|[c.2422A>T] Clinical description|
The first seizure of the male patient, three-years-old, was presented with hemiclonic seizures at the age of nine months. Thereafter the patient occurred generalized tonic clonic seizures with monthly after the age of one year. The patient had moderate mental decline and hyperkinetic. There had no familial history of FS or epilepsies. The CT was normal. The electroencephalogram analysis showed rare sharp waves in left temporal region (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.