|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|1413||25||c.4831G>T||p.Val1611Phe||DIVS3||Missense||N→N (50); GOF||GEFS+||Familial(Maternal,GEFS+),P=2/2||Fujiwara T.2003, Kanai K.2004|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|35||c.4831G>T||p.Val1611Phe(V1611F)||DIVS3||GEFS+ f||GOF||Small persistent current, hyperexcitable shift of window current (negative shift in both activation and inactivation curve).||Rhodes TH.2005|
|Number||Nucleotide change||Protein change||Mutation type||Proband's phenotype||1st transmitter's phenotype||Mosaic||Affected generations||Penetrance||Reference|
|[c.4831G>T] Clinical description|
The first seizure of the male patient, three-years-old, was presented with generalized tonic-clonic seizures at the age of eight months. Thereafter the patient have only GTCS with yearly. The patient neurological findings had not detected. The patient's mother had febrile convulsions. The CT scan was normal, and the electroencephalogram analysis no epileptic paroxysms. V1611F originally belonged to the list of ICEGTC, but FS with only GTCS yearly, without any other neurological abnormalities(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.