SCN1A mutation database!

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
11	c.2422A>T	p.Thr808Ser(T808S)	DIIS2	ICEGTC	IE	Increased current density, delayed both onset and recovery from slow inactivation.	Rhodes TH.2005

[c.2422A>T] Clinical description
The first seizure of the male patient, three-years-old, was presented with hemiclonic seizures at the age of nine months. Thereafter the patient occurred generalized tonic clonic seizures with monthly after the age of one year. The patient had moderate mental decline and hyperkinetic. There had no familial history of FS or epilepsies. The CT was normal. The electroencephalogram analysis showed rare sharp waves in left temporal region (Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).

[c.2422A>T] Clinical description

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

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.