SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
795	15	c.2935G>A	p.Gly979Arg	DIIS6	Missense	N→P/﹢(125); 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
22	c.2935G>A	p.Gly979Arg(G979R)	DIIS6	ICEGTC	LOF	No measurable sodium current.	Rhodes TH.2005; Sugawara T.2003

[c.2935G>A] Clinical description
The first seizure of the male patient, 19-years-old, was presented with hemiclonic seizures at the age of four months. Thereafter the patient occurred other seizures including complex partial seizures from seven to seventeen years, and GTCS with monthly after the age of seven months. The patient had severe mental decline. His sister had Down's syndrome, and his maternal cousin had epilepsy. The CT scan was normal and the electroencephalogram analysis showed bilateral frontal sharp wave and spike-wave complex(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).

[c.2935G>A] Clinical description

The first seizure of the male patient, 19-years-old, was presented with hemiclonic seizures at the age of four months. Thereafter the patient occurred other seizures including complex partial seizures from seven to seventeen years, and GTCS with monthly after the age of seven months. The patient had severe mental decline. His sister had Down's syndrome, and his maternal cousin had epilepsy. The CT scan was normal and the electroencephalogram analysis showed bilateral frontal sharp wave and spike-wave complex(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.