Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
116926c.5596G>Tp.Asp1866TyrC-terminalMissenseP/﹣→P/O(160); GOFGEFS+Familial(Maternal,GEFS+),P=4/4Spampanato J.2004

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Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
52c.5596G>Tp.Asp1866Tyr(D1866Y)C-Terminal GEFS+ fGOF Positive shift of fast inactivation due to reduced association with β1 subunit, persistent current.Spampanato J.2004

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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
130c.5596G>Tp.Asp1866Tyr(C-terminal)MissenseGEFS+GEFS+(Maternal) ≥34/4Spampanato J.2004

[c.5596G>T] Clinical description

The pedigree of a small family with four affected members is presented in article. The clinical features of each affected individual are described. Three affected individuals experienced febrile seizures persisting beyond six years of age, followed by onset of non-febrile seizures after the age of six. One affected individual (III-1) experienced afebrile myoclonic and atonic-astatic seizures beginning at the age of three and developed progressive learning disabilities. Her clinical and EEG features were consistent with myoclonic-astatic epilepsy, also known as Doose syndrome, one of the most severe seizure phenotypes identified in families with GEFS+. The fourth affected individual (III-2) continues to have febrile seizures without afebrile seizures, consistent with her young age(Spampanato J, et al. J Neurosci. 2004 Nov 3;24(44): 10022-34. [15525788]).