|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|1668||26||c.5492T>C||p.Phe1831Ser||C-terminal||Missense||N→P/O(155); pLOF||SMEI||NA||Fujiwara T.2003|
|SMEI||De novo||Le Gal F.2014|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|50||c.5492T>C||p.Phe1831Ser(F1831S)||C-terminal||SMEI||pLOF||Apparent reduction of peak current.||Sugawara T. 2003|
|[c.5492T>C] Clinical description|
The first seizure of the female patient, 14-years-old, was presented with generalized tonic-clonic seizures (GTCS) at the age of eight months. Thereafter the patient occurred other seizures including myoclonic from 8months to13years old, absence from 14 months to 13 years old, complex partial seizures from 2 years old, hemiclonic, and GTCS with weekly after the age of eight months.The patient had severe mental decline and ataxia. There had no familial history of FS or epilepsies. The CT was slight atrophy,and the electroencephalogram analysis showed spike-slow complex, poly spike-slow complex, and photosensitivity(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. ).
Copyright ©2014 Institute of Neuroscience and The Second Affiliated Hospital of Guangzhou Medical University
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.