SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1290	26	c.4894C>T	p.Pro1632Ser	DIVS3-S4	Missense	N→P/O (74); G-LOF	ICEGTC	NA	Fujiwara T.2003

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
36	c.4894C>T	p.Pro1632Ser(P1632S)	DIVS3-S4	ICEGTC	G-LOF	Moderate persistent current. Reduced window current (channel availability) by greater negative shift of inactivation than the negative shift of activation, reduced channel availability by greater delaying in recovery than in onset of slow inactivation.	Rhodes TH.2005

[c.4894C>T] Clinical description
The first seizure of the male patient, 18-years-old, was presented with hemiclonic seizures at the age of three months. Thereafter the patent occurred other seizures including complex partial seizures from one to 17 years old, and GTCS with weekly after the age of three months. The patient had severe mental decline. There had no familial history of FS or epilepsies. The CT wasn't done, and the electroencephalogram analysis showed no epileptic paroxysms(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).

[c.4894C>T] Clinical description

The first seizure of the male patient, 18-years-old, was presented with hemiclonic seizures at the age of three months. Thereafter the patent occurred other seizures including complex partial seizures from one to 17 years old, and GTCS with weekly after the age of three months. The patient had severe mental decline. There had no familial history of FS or epilepsies. The CT wasn't done, and the electroencephalogram analysis showed no epileptic paroxysms(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.