|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|1469||26||c.4968C>G||p.Ile1656Met||DIVS4||Missense||N→N (10); DE||GEFS+||Familial(Maternal,FS+),P=4/4||Wallace RH.2001|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|40||c.4968C>G||p.Ile1656Met(I1656M)||DIVS4||GEFS+ f||DE||Hypoexcitable (positive) shift of activation and negative shift of inactivation.||Lossin C. 2003|
|Number||Nucleotide change||Protein change||Mutation type||Proband's phenotype||1st transmitter's phenotype||Mosaic||Affected generations||Penetrance||Reference|
|[c.4968C>G] Clinical description|
The Israeli family was of Druze origin; the parents were from different but proximate villages and were not known to be related. This family spans two generations, and four family members had seizures. The proband, I-2, age 41 years, had had hundreds of tonic-clonic seizures, sometimes with fever. These began at age four years and continued, at a rate of approximately one per month, until the time of the study. The proband was mildly intellectually impaired. EEG showed generalized irregular spike-wave and polyspike-wave discharges, and FS+ was diagnosed. Of her four children, the oldest, II-1, was unaffected, two, II-2 and II-4, had FS, and one, II-3, had FS+(Wallace RH, et al. Am J Hum Genet. 2001 Apr;68(4):859-65.).
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Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China
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