|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|738||15||c.2817C>G||p.His939Gln||DIIS5-S6||Missense||P/﹢→P/O(24); LOF||SMEI||De novo||Claes L.2003|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|18||c.2817C>G||p.His939Gln(H939Q)||DIIS5-S6||SMEI||LOF||No measurable sodium current.||Ohmori I.2006|
|[c.2817C>G] Clinical description|
The first seizure of the patient was presented with lateralized tonic-clonic seizure at the age of 4.5 months after 1st vaccination. Thereafter the patent occurred other seizures including secondary generalized tonic clonic seizures, generalized tonic seizures, complex partial seizures and status epilepticus. The patient had moderate mental retardation, ataxia and therapy resistant during following up for 1.9 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.