|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|161||4||c.563A>T||p.Asp188Val||DIS2-S3||Missense||P/﹣→N (152); IE||GEFS+||Familial(Paternal, FS+),P=8/9||Wallace RH.2001|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|3||c.563A>T||p.Asp188Val||DIS2-S3||GEFS+ f||IE||Increased resistance to cumulative inactivation during high frequency activation, indirect evidence of increased excitability.||Cossette P.2003|
|Number||Nucleotide change||Protein change||Mutation type||Proband's phenotype||1st transmitter's phenotype||Mosaic||Affected generations||Penetrance||Reference|
|[c.563A>T] Clinical description|
The family residing in northern Victoria, Australia, whose ancestors derived from Yorkshire, United Kingdom. Forty-one family members, including 21 affected individuals with GEFS+, were included in the linkage analysis. The mean age at seizure onset was 1.6 years. Most patients had the benign-epilepsy phenotype of FS+ characterized by generalized tonic-clonic seizures with or without fever, with seizure offset occurring by the second decade. Neurological examination and intellect were normal in all individuals except one, who had moderate intellectual disability. Electroencephalography recordings were normal in all individuals, except for three who had generalized epileptiform activity and four who had mild or moderate diffuse background slowing (Lopes-Cendes I, et al. Am. J. Hum. Genet. 66:698–701, 2000 ).
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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.