|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|705||15||c.2705T>G||p.Phe902Cys||DIIS5||Missense||N→N (205); LOF||SMEI||NA||Ohmori I.2002|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|17||c.2705T>G||p.Phe902Cys(F902C)||DIIS5||SMEI||LOF||No measurable sodium current.||Rhodes TH.2004|
|[c.2705T>G] Clinical description|
There was no detail description in artcle but the male patient had presented with the first seizure at the age of 5 months, and the patient's brother had febrile convulsions(Ohmori I,et al. Biochem Biophys Res Commun. 2002 Jul 5;295(1):17-23.).
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Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China
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