|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|1519||26||c.5054C>A||p.Ala1685Asp||DIVS5||Missense||N→P/﹣(126); LOF||SMEI||De novo||Fujiwara T.2003|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|45||c.5054C>A||p.Ala1685Asp(A1685D)||DIVS5||SMEI||LOF||The mutant channel with and without b1 subunit did not conduct any sodium currents.||Sugiura Y.2012|
|[c.5054C>A] Clinical description|
The first seizure of the male patient, 19-years-old, was presented with generalized tonic-clonic seizures (GTCS) at the age of six months. Thereafter the patient occurred other seizures including myoclonic seizures from two to four years old, and GTCS with weekly after the age of six months. The patient had severe mental decline and ataxia. The patient maternal uncle had febrile convulsion. The CT was normal, and the electroencephalogram analysis showed poly spike-wave complexs and rare spike in frontal region(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. ).
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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.