SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1650	26	c.5422T>C	p.Phe1808Leu	C-terminal	Missense	N→N (22); G-LOF	ICEGTC	NA	Fujiwara T.2003
1650	26	c.5422T>C	p.Phe1808Leu	C-terminal	Missense	N→N (22); G-LOF	SMEI	NA	Epi4K consortium..2017

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
49	c.5422T>C	p.Phe1808Leu(F1808L)	C-terminal	ICEGTC	G-LOF	Big persistent current. Reduced current density, reduced window current (channel availability) by greater negative shift of inactivation than the negative shift of activation.	Rhodes TH.2005

[c.5422T>C] Clinical description
The first seizure of the female patient, 25-years-old, was presented with generalized tonic-clonic seizures (GTCS) at the age of 11 months. Thereafter the patent have only GTCS with yearly. The patient had moderate mental decline, ataxia and left hemiparesis . There had no familial history of FS or epilepsies. The CT was normal, and the electroencephalogram analysis showed spikes in left frontal-temporal region and spike-wave complex(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).

[c.5422T>C] Clinical description

The first seizure of the female patient, 25-years-old, was presented with generalized tonic-clonic seizures (GTCS) at the age of 11 months. Thereafter the patent have only GTCS with yearly. The patient had moderate mental decline, ataxia and left hemiparesis . There had no familial history of FS or epilepsies. The CT was normal, and the electroencephalogram analysis showed spikes in left frontal-temporal region 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.