SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1364	26	c.5126C>T	p.Thr1709Ile	DIVS5-S6	Missense	P/O→N (89); LOF	ICEGTC	Familial(Maternal,GEFS+),P=2/2	Fujiwara T.2003

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
46	c.5126C>T	p.Thr1709Ile(T1709I)	DIVS5-S6	ICEGTC ^f	LOF	No measurable sodium current.	Rhodes TH.2005

Inheritance information:

Number	Nucleotide change	Protein change	Mutation type	Proband's phenotype	1st transmitter's phenotype	Mosaic	Affected generations	Penetrance	Reference
118	c.5126C>T	p.Thr1709Ile(DIVS5-S6)	Missense	SMEB	GEFS(Maternal)		2	2/2	Fujiwara T.2003

[c.5126C>T] Clinical description
The first seizure of the male patient, 25-years-old, was presented with generalized tonic-clonic seizures at the age of nine months. Thereafter the patent have only GTCS with monthly. The patient had severe mental decline and ataxia. The patient's mother had epilepsy, and your sister had congenital heart disease. The MRI was normal, and the electroencephalogram analysis showed right frontal spike-wave complex and multifocal spikes(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).

[c.5126C>T] Clinical description

The first seizure of the male patient, 25-years-old, was presented with generalized tonic-clonic seizures at the age of nine months. Thereafter the patent have only GTCS with monthly. The patient had severe mental decline and ataxia. The patient's mother had epilepsy, and your sister had congenital heart disease. The MRI was normal, and the electroencephalogram analysis showed right frontal spike-wave complex and multifocal spikes(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.