|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|1520||26||c.5054C>T||p.Ala1685Val||DIVS5||Missense||N→N (64); pLOF||PEFS+||Familial(Paternal,PEFS+),P=5/5||Sugawara T.2001|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|44||c.5054C>T||p.Ala1685Val(A1685V)||DIVS5||PEFS+ f||LOF||No measurable sodium current.||Sugiura Y.2012|
|Number||Nucleotide change||Protein change||Mutation type||Proband's phenotype||1st transmitter's phenotype||Mosaic||Affected generations||Penetrance||Reference|
|[c.5054C>T] Clinical description|
In this family, the affected members reportedly had frequent seizures, both febrile and afebrile, during infancy and subsequently developed epilepsies. An autosomal dominant inheritance for the epilepsy phenotype was suggested. The seizure phenotypes observed in the affected family members seemed compatible with partial epilepsies, except for the proband’s one-year-old sister (III-2), who had only FS at the time of the study. Partial epilepsy of the proband, a 6-year-old girl, was confirmed by EEG and [18F]fluorodeoxyglucose PET, which showed a right frontal focus(Sugawara T, et al. Neurology. 2001 Aug 28;57(4):703-5.).
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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.