Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
141325c.4831G>Tp.Val1611PheDIVS3MissenseN→N (50); GOFGEFS+Familial(Maternal,GEFS+),P=2/2Fujiwara T.2003, Kanai K.2004

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
35c.4831G>Tp.Val1611Phe(V1611F)DIVS3GEFS+ fGOF Small persistent current, hyperexcitable shift of window current (negative shift in both activation and inactivation curve).Rhodes TH.2005

Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
129c.4831G>Tp.Val1611Phe(DIVS3)MissenseGEFS+GEFS+(Maternal) 22/2Fujiwara T.2003

[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. [12566275]).