SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
816	16	c.2956C>T	p.Leu986Phe	DIIS6	Missense	N→N (22); LOF	SMEI	De novo	Claes L.2001

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
25	c.2956C>T	p.Leu986Phe(L986F)	DIIS6	SMEI	LOF	No measurable sodium current.	Lossin C.2003

[c.2956C>T] Clinical description
The first seizure of the female patient, three-years-old, was presented with generalized tonic-clonic seizures with fever at the age of four months. Thereafter the patent occurred other seizures including myoclonic seizures, secondary generalized tonic clonic seizures, absence seizure, and simple partial seizures with rarely from 12 months of age. The patient had moderate mental retardation and ataxia. The drug-therapy was resistant(Claes L, et al. Am. J. Hum. Genet. 68:1327–1332, 2001 [11359211]).

[c.2956C>T] Clinical description

The first seizure of the female patient, three-years-old, was presented with generalized tonic-clonic seizures with fever at the age of four months. Thereafter the patent occurred other seizures including myoclonic seizures, secondary generalized tonic clonic seizures, absence seizure, and simple partial seizures with rarely from 12 months of age. The patient had moderate mental retardation and ataxia. The drug-therapy was resistant(Claes L, et al. Am. J. Hum. Genet. 68:1327–1332, 2001 [11359211]).

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.