|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|1153||21||c.4219C>T||p.Arg1407X||DIIIS5-S6||Nonsense||Haploinsufficiency;LOF||SMEI||De novo||Sugawara T.2002|
|SMEI||De novo||Harkin LA.2007|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|32||c.4219C>T||p.Arg1407X (R1396X)||DIIIS5-S6||SMEI||LOF||Extremely small Na+ currents, generate non-functional channel.||Sugawara T.2003|
|[c.4219C>T] Clinical description|
The first seizure of the male patient, three-years-old, was presented with hemiclonic seizures at the age of four months. Thereafter the patient occurred other seizures including absence seizures from eight months of age, myoclonia seizures with daily from 6months of age, GTCS with weekly from eight months of age, and complex partial seizures with monthly from one year of age. The patient had ataxia and 50 of developmental quotient. The patient's mother had febrile convulsion. The CT and MRI scan was normal, and the electroencephalogram analysis showed spike-wave complex, poly spike-wave complex, and photosensitivity(Sugawara T,et al. Neurology. 2002 Apr 9;58(7): 1122-4. ).
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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.