|Number||Exon/Intron||Nucleotide change||Protein change||Location||Mutation type||Consequences||Phenotype||Inheritance||Reference|
|685||15||c.2624C>T||p.Thr875Met||DIIS4||Missense||P/O→N (81); G-LOF||PEFS+||Familial(Paternal,FS),P=10/10||Escayg A.2000|
|Number||Nucleotide change||Protein change||Location||Phenotype||Functional defect type||Details of the major biophysical abnormalities.||Reference|
|16||c.2624C>T||p.Thr875Met(T875M)||DIIS4||PEFS+ f||G-LOF||Small persistent current. Enhanced fast and slow inactivation that may result in reduced current density during long depolarization or repetitive stimulation.||Lossin C.2002; Alekov AK.2001; Spampanato J.2001|
|Number||Nucleotide change||Protein change||Mutation type||Proband's phenotype||1st transmitter's phenotype||Mosaic||Affected generations||Penetrance||Reference|
|75||c.2624C>T||p.Thr875Met T875M(DIIS4)||Missense||PEFS+||FS(Paternal)||10/10||Depienne C.2009|
|[c.2624C>T] Clinical description|
Seizures were diagnosed in 12 living subjects, including one PEFS+, four GEFS+ (two with atonic seizures), and seven FS. Febrile seizures often lasted for 120 min, without focalization or motor deficiency (except in three relatives), and therefore did not meet complex FS criteria. The mean number of attacks was ~5 (range 2–20). Five family members presented with afebrile seizures associated with FS until their teenage years (mean 11 years). These seizures were generalized or hemicorporeal, tonic-clonic or atonic absence attacks.Neurological examination showed normal findings. Interictal electroencephalograms were normal except in three patients, in whom generalized spike-and-wave discharges arose a few years after the onset of FS.The first seizure occurred sooner in patients with both FS and other types of seizures (mean 5.8 months, range 1-7 months) than in those with FS only (mean 24 months, range 12–36 month).(Moulard B, et al. Am. J. Hum. Genet. 65:1396–1400, 1999. [10521305 ]).
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.