Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
120626c.5779A>Gp.Arg1927GlyC-terminalMissenseP/﹢→N (125); pLOF GEFS+Familial(Paternal,GEFS+),P=2/2Combi R.2009

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Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
55c.5779A>Gp.Arg1927Gly(R1927G) (Arg1916Gly,R1916G)C-terminalGEFS+ fpLOF Loss of function caused by folding defects that can be rescued by molecular interactions with associated proteins and drugs.Rusconi R.2009

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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
134c.5779A>Gp.Arg1927Gly(C-terminal)MissenseGEFS+GEFS+(Paternal) 22/2Combi R.2009

[c.5779A>G] Clinical description

The proband (III-1) was a boy that was born from non-consanguineous parents and with a normal childbirth. The patient had presented with simple febrile seizures (FS) since the age of 13 months and with both febrile and generalized afebrile seizures (clonic bilateral seizures) since the age of two years, allowing a diagnosis of generalized epilepsy with febrile seizures plus (GEFS+). He was treated with valproate (VPA) from three to 14 years of age, and in that period the frequency of the seizures progressively decreased (one-two seizures/year until the age of nine years, no seizures from nine to 14 years old). A gradual suspension of the therapy was begun at the age of 14 years and one year later the patient showed an episode of FS; thus, the pharmacological therapy with VPA was restarted. He is now 16 years old, under therapy with VPA and seizure free. A CT scan performed at three years of age was negative, as well as the search for FRAXA and FRAXE mutations and a high resolution karyotype analysis performed to detect chromosomal abnormalities; electroencephalograms performed at different ages were normal and they never revealed epileptiform discharges. Learning difficulties associated with deficits of attention and depressive and anxious personality were reported during the primary school, but the cognitive level was within the standards (total IQ 89, verbal IQ 95, performance IQ 85). Currently, cognitive or behavioral problems have not been reported. The father (II-4) showed from 3 to 10 years of age an epileptic phenotype similar to that of the proband, with a normal psychomotor development. He is now 48 years old and seizure free. The mother and all the other relatives had no history of seizures or epilepsy(Rusconi R, et al. Hum Mutat. 2009 Jul;30(7):E747-60. [19402159]).