|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|770||15||c.2875T>C||p.Cys959Arg||DIIS5-S6||Missense||N→P/﹢(180); LOF||SMEI||De novo||Claes L.2003|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|21||c.2875T>C||p.Cys959Arg(C959R)||DIIS5-S6||SMEI||LOF||No measurable sodium current.||Ohmori I.2006|
|[c.2875T>C] Clinical description|
The first seizure of the patient was presented with lateralized tonic-clonic seizures with fever at the age of three months. Thereafter the patient occurred other seizures including secondary generalized tonic clonic seizures, absence seizures, status epilepticus, and myoclonic seizures with weekly after the age of 10 months. The patient had severe retardation, ataxia and therapy resistant during following up for 16 years(Claes L,et al. Hum Mutat. 2003 Jun;21(6): 615-21. ).
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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.