Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
93418c.3610T>Cp.Trp1204ArgDII-DIIIMissenseN→P/﹢(101); GOFGEFS+Familial(Paternal,GEFS+),P=5/5Escayg A.2001
GEFS+Familial(Paternal,FS)Marini C.2007

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
28c.3610T>Cp.Trp1204Arg(W1204R)DII-DIII (D-linkers)GEFS+ fGOF Small persistent current, hyperexcitable (negative) shift of activation curve, hyperexcitable shift of window current (negative shift in both activation and inactivation curve).Lossin C.2002; Spampanato J.2003

Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
91c.3610T>Cp.Trp1204Arg(DII-DIII)MissenseGEFS+GEFS+(Paternal) 5/5Escayg A.2001
GEFS+FS(Paternal) Marini C.2007

[c.3610T>C] Clinical description

The four-generation pedigree is presented in article. Six individuals in this family were classified as affected. Individuals III-1, IV-1, and IV-4 reported a history of childhood febrile and afebrile seizures. Individual II-3 had febrile seizures until age five years but did not have afebrile seizures. The proband (IV-3) was diagnosed with severe myoclonic seizures and did not have a history of febrile seizures. A detailed family history indicated that individual II-2 had epilepsy as an adult. The disease status of individual I-2 is unclear. EEG recordings show normal on individuals III-1, sharp slow waves, spike waves and polyspike wave on individuals IV-1, polyspike wave on individuals IV-3, and irregular spike waves on individuals IV-4, respectively. Normal EEG patterns were recorded from the unaffected individuals: III-2, IV-2, and IV-5. Results of neurological examination were normal in all individuals except IV-1, who had mild intellectual disability and severe seizures that resulted in permanent institutional care(Escayg A, et al. Am J Hum Genet. 2001 Apr;68(4):866-73. [11254445]).