SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1477	26	c.4982T>C	p.Phe1661Ser	DIVS4-S5	Missense	N→P/O(155); G-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
42	c.4982T>C	p.Phe1661Ser(F1661S)	DIVS4-S5(V-sensor)	SMEI	G-LOF	Big persistent current. Reduced current density, impaired recovery from slow inactivation.	Rhodes TH.2004

[c.4982T>C] Clinical description
The first seizure of patient was presented with status epilepticus with fever at the age of nine months. Thereafter the patent occurred other seizures including secondary generalized tonic clonic seizures, lateralized tonic-clonic seizures, and myoclonic seizures with daily after the age of 15 months. The patient had severe retardation and therapy resistant during following up for 6.5 years(Claes L,et al. Hum Mutat. 2003 Jun;21(6): 615-21. [12754708]).

[c.4982T>C] Clinical description

The first seizure of patient was presented with status epilepticus with fever at the age of nine months. Thereafter the patent occurred other seizures including secondary generalized tonic clonic seizures, lateralized tonic-clonic seizures, and myoclonic seizures with daily after the age of 15 months. The patient had severe retardation and therapy resistant during following up for 6.5 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.