Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
---|---|---|---|---|---|---|---|---|---|
658 | 14 | c.2575C>T | p.Arg859Cys | DIIS4 | Missense | P/﹢→N (180); DE | GEFS+ | Familial(Paternal,FS),p=7/7 | Barela AJ.2006 |
SMEI | De novo | Depienne C.2009 | |||||||
SMEI | NA | Zuberi SM.2011 |
Functional information:
Number | Nucleotide change | Protein change | Location | Phenotype | Functional defect type | Details of the major biophysical abnormalities. | Reference |
---|---|---|---|---|---|---|---|
12 | c.2575C>T | p.Arg859Cys(R859C) | DIIS4 | GEFS+ f | DE | Hypoexcitable (positive) shift of activation, slower recovery from slow inactivation, lower levels of current. | Barela AJ.2006 |
Inheritance information:
Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
---|---|---|---|---|---|---|---|---|---|
71 | c.2575C>T | p.Arg859Cys(DIIS4) | Missense | GEFS+ | FS(Paternal) | 7/7 | Barela AJ.2006 |
[c.2575C>T] Clinical description |
---|
The five-generation pedigree come from Caucasian family, and contained 27 individuals, ten of them affected. Four affected individuals had presented with GEFS+, two affected individuls with GTCS without FS, while other four subjects had only simple FS. The proband (V-1) had only presented with generalized tonic clonic seizures with fever or without fever, and referred for evaluation for intractable epilepsy. The electroencephalogram analysis showed generalized intermittent polymorphic delta slowing, and the MRI showed no structural abnormality after anterior 2/3 callosotomy(Barela AJ,et al. J Neurosci. 2006 Mar 8;26(10): 2714-23. [16525050]). |
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.