|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|934||18||c.3610T>C||p.Trp1204Arg||DII-DIII||Missense||N→P/﹢(101); GOF||GEFS+||Familial(Paternal,GEFS+),P=5/5||Escayg A.2001|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|28||c.3610T>C||p.Trp1204Arg(W1204R)||DII-DIII (D-linkers)||GEFS+ f||GOF||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|
|Number||Nucleotide change||Protein change||Mutation type||Proband's phenotype||1st transmitter's phenotype||Mosaic||Affected generations||Penetrance||Reference|
|[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. ).
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Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China
Collaborative Innovation Center for Neurogenetics and Channelopathies, Guangzhou 510260, China.