|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|1542||26||c.5126C>T||p.Thr1709Ile||DIVS5-S6||Missense||P/O→N (89); LOF||ICEGTC||Familial(Maternal,GEFS+),P=2/2||Fujiwara T.2003|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|46||c.5126C>T||p.Thr1709Ile(T1709I)||DIVS5-S6||ICEGTC f||LOF||No measurable sodium current.||Rhodes TH.2005|
|Number||Nucleotide change||Protein change||Mutation type||Proband's phenotype||1st transmitter's phenotype||Mosaic||Affected generations||Penetrance||Reference|
|[c.5126C>T] Clinical description|
The first seizure of the male patient, 25-years-old, was presented with generalized tonic-clonic seizures at the age of nine months. Thereafter the patent have only GTCS with monthly. The patient had severe mental decline and ataxia. The patient's mother had epilepsy, and your sister had congenital heart disease. The MRI was normal, and the electroencephalogram analysis showed right frontal spike-wave complex and multifocal spikes(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.