SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
770	15	c.2875T>C	p.Cys959Arg	DIIS5-S6	Missense	N→P/﹢(180); LOF	SMEI	De novo	Claes L.2003

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
21	c.2875T>C	p.Cys959Arg(C959R)	DIIS5-S6	SMEI	LOF	No measurable sodium current.	Ohmori I.2006

[c.2875T>C] Clinical description
The first seizure of the patient was presented with lateralized tonic-clonic seizures with fever at the age of three months. Thereafter the patient occurred other seizures including secondary generalized tonic clonic seizures, absence seizures, status epilepticus, and myoclonic seizures with weekly after the age of 10 months. The patient had severe retardation, ataxia and therapy resistant during following up for 16 years(Claes L,et al. Hum Mutat. 2003 Jun;21(6): 615-21. [12754708]).

[c.2875T>C] Clinical description

The first seizure of the patient was presented with lateralized tonic-clonic seizures with fever at the age of three months. Thereafter the patient occurred other seizures including secondary generalized tonic clonic seizures, absence seizures, status epilepticus, and myoclonic seizures with weekly after the age of 10 months. The patient had severe retardation, ataxia and therapy resistant during following up for 16 years(Claes L,et al. Hum Mutat. 2003 Jun;21(6): 615-21. [12754708]).

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.