SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
812	16	c.2948T>C	p.Val983Ala	DIIS6	Missense	N→N (64); pLOF	ICEGTC	De novo	Fujiwara T.2003

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
23	c.2948T>C	p.Val983Ala(V983A)	DIIS6	ICEGTC	pLOF	Reduced current density, hypoexcitable (positive) shift of activation, reduced channel availability by negative shift of inactivation and positive shift of activation. Possible increased channel availability suggested by delayed onset and faster recovery of slow inactivation (less direct).	Rhodes TH.2005

[c.2948T>C] Clinical description
The first seizure of the male patient, 21-years-old, was presented with hemiclonic seizures at the age of three months. Thereafter the patient occurred other seizures including complex partial seizures at the age of 2 years, and generalized tonic clonic seizures with daily after the age of one year. The patient had severe mental decline, ataxia and pyramidal sign. His maternal cousin had febrile convulsion. The CT scan was normal and the electroencephalogram analysis showed multifocal spikes(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).

[c.2948T>C] Clinical description

The first seizure of the male patient, 21-years-old, was presented with hemiclonic seizures at the age of three months. Thereafter the patient occurred other seizures including complex partial seizures at the age of 2 years, and generalized tonic clonic seizures with daily after the age of one year. The patient had severe mental decline, ataxia and pyramidal sign. His maternal cousin had febrile convulsion. The CT scan was normal and the electroencephalogram analysis showed multifocal spikes(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.