SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1668	26	c.5492T>C	p.Phe1831Ser	C-terminal	Missense	N→P/O(155); pLOF	SMEI	NA	Fujiwara T.2003
1668	26	c.5492T>C	p.Phe1831Ser	C-terminal	Missense	N→P/O(155); pLOF	SMEI	De novo	Le Gal F.2014

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
50	c.5492T>C	p.Phe1831Ser(F1831S)	C-terminal	SMEI	pLOF	Apparent reduction of peak current.	Sugawara T. 2003

[c.5492T>C] Clinical description
The first seizure of the female patient, 14-years-old, was presented with generalized tonic-clonic seizures (GTCS) at the age of eight months. Thereafter the patient occurred other seizures including myoclonic from 8months to13years old, absence from 14 months to 13 years old, complex partial seizures from 2 years old, hemiclonic, and GTCS with weekly after the age of eight months.The patient had severe mental decline and ataxia. There had no familial history of FS or epilepsies. The CT was slight atrophy,and the electroencephalogram analysis showed spike-slow complex, poly spike-slow complex, and photosensitivity(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).

[c.5492T>C] Clinical description

The first seizure of the female patient, 14-years-old, was presented with generalized tonic-clonic seizures (GTCS) at the age of eight months. Thereafter the patient occurred other seizures including myoclonic from 8months to13years old, absence from 14 months to 13 years old, complex partial seizures from 2 years old, hemiclonic, and GTCS with weekly after the age of eight months.The patient had severe mental decline and ataxia. There had no familial history of FS or epilepsies. The CT was slight atrophy,and the electroencephalogram analysis showed spike-slow complex, poly spike-slow complex, and photosensitivity(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.