SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
817	16	c.2954A>T	p.Asn985Ile	DIIS6	Missense	P/O→N (149); LOF	SMEI	NA	Fujiwara T.2003

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
24	c.2954A>T	p.Asn985Ile(N985I)	DIIS6	SMEI	LOF	Extremely small Na+ currents, generate non-functional channel.	Sugawara T. 2003

[c.2954A>T] Clinical description
The first seizure of the female patient, 25-years-old, was presented with hemiclonic seizures at the age of four months. Thereafter the patient occurred other seizures including complex partial seizures at the age of three years, myoclonic seizure from the ageof three to six years, and generalized tonic clonic seizures with daily after the age of four months. The patient had severe mental decline. There had no familial history of FS or epilepsies. The CT scan was normal and the electroencephalogram analysis showed spike-wave complex, spikes in bilateral frontal and left frontal region(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).

[c.2954A>T] Clinical description

The first seizure of the female patient, 25-years-old, was presented with hemiclonic seizures at the age of four months. Thereafter the patient occurred other seizures including complex partial seizures at the age of three years, myoclonic seizure from the ageof three to six years, and generalized tonic clonic seizures with daily after the age of four months. The patient had severe mental decline. There had no familial history of FS or epilepsies. The CT scan was normal and the electroencephalogram analysis showed spike-wave complex, spikes in bilateral frontal and left frontal region(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.