|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|1477||26||c.4982T>C||p.Phe1661Ser||DIVS4-S5||Missense||N→P/O(155); G-LOF||SMEI||De novo||Claes L.2003|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|42||c.4982T>C||p.Phe1661Ser(F1661S)||DIVS4-S5(V-sensor)||SMEI||G-LOF||Big persistent current. Reduced current density, impaired recovery from slow inactivation.||Rhodes TH.2004|
|[c.4982T>C] Clinical description|
The first seizure of patient was presented with status epilepticus with fever at the age of nine months. Thereafter the patent occurred other seizures including secondary generalized tonic clonic seizures, lateralized tonic-clonic seizures, and myoclonic seizures with daily after the age of 15 months. The patient had severe retardation and therapy resistant during following up for 6.5 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.