Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
26c.3032A>Tp.Asn1011Ile(N1011I)DII-DIII (D-linkers)ICEGTC pLOF Reduced current density, negative shift of inactivation.Rhodes TH.2005

[c.3032A>T] Clinical description

The N1011I and T808S mutation come from the same patient. The first seizure of the male patient, three-years-old, was presented with hemiclonic seizures at the age of nine months. Thereafter the patent occurred generalised tonic lonic seizures with monthly after the age of one year. The patient had moderate mental decline and hyperkinetic. There had no familial history of epilepsy. The CT scan was normal and the electroencephalogram analysis showed  rare sharp waves in left temporal region(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).