Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
1614c.563A>Tp.Asp188ValDIS2-S3MissenseP/﹣→N (152); IE GEFS+Familial(Paternal, FS+),P=8/9 Wallace RH.2001
NARilstone JJ.2012

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
3c.563A>Tp.Asp188ValDIS2-S3GEFS+ fIE Increased resistance to cumulative inactivation during high frequency activation, indirect evidence of increased excitability.Cossette P.2003

Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
20c.563A>Tp.Asp188Val(DIS2-S3)MissenseGEFS+FS+(Paternal) 8/9Wallace RH.2001

[c.563A>T] Clinical description

The family residing in northern Victoria, Australia, whose ancestors derived from Yorkshire, United Kingdom. Forty-one family members, including 21 affected individuals with GEFS+, were included in the linkage analysis. The mean age at seizure onset was 1.6 years. Most patients had the benign-epilepsy phenotype of FS+ characterized by generalized tonic-clonic seizures with or without fever, with seizure offset occurring by the second decade. Neurological examination and intellect were normal in all individuals except one, who had moderate intellectual disability. Electroencephalography recordings were normal in all individuals, except for three who had generalized epileptiform activity and four who had mild or moderate diffuse background slowing (Lopes-Cendes I, et al. Am. J. Hum. Genet. 66:698–701, 2000 [10677328]).