SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1310	26	c.4968C>G	p.Ile1656Met	DIVS4	Missense	N→N (10); DE	GEFS+	Familial(Maternal,FS+),P=4/4	Wallace RH.2001

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
40	c.4968C>G	p.Ile1656Met(I1656M)	DIVS4	GEFS+ ^f	DE	Hypoexcitable (positive) shift of activation and negative shift of inactivation.	Lossin C. 2003

Inheritance information:

Number	Nucleotide change	Protein change	Mutation type	Proband's phenotype	1st transmitter's phenotype	Mosaic	Affected generations	Penetrance	Reference
106	c.4968C>G	p.Ile1656Met(DIVS4)	Missense	GEFS+	FS+(Maternal)		2	4/4	Wallace RH.2001

[c.4968C>G] Clinical description
The Israeli family was of Druze origin; the parents were from different but proximate villages and were not known to be related. This family spans two generations, and four family members had seizures. The proband, I-2, age 41 years, had had hundreds of tonic-clonic seizures, sometimes with fever. These began at age four years and continued, at a rate of approximately one per month, until the time of the study. The proband was mildly intellectually impaired. EEG showed generalized irregular spike-wave and polyspike-wave discharges, and FS+ was diagnosed. Of her four children, the oldest, II-1, was unaffected, two, II-2 and II-4, had FS, and one, II-3, had FS+(Wallace RH, et al. Am J Hum Genet. 2001 Apr;68(4):859-65.[11254444]).

[c.4968C>G] Clinical description

The Israeli family was of Druze origin; the parents were from different but proximate villages and were not known to be related. This family spans two generations, and four family members had seizures. The proband, I-2, age 41 years, had had hundreds of tonic-clonic seizures, sometimes with fever. These began at age four years and continued, at a rate of approximately one per month, until the time of the study. The proband was mildly intellectually impaired. EEG showed generalized irregular spike-wave and polyspike-wave discharges, and FS+ was diagnosed. Of her four children, the oldest, II-1, was unaffected, two, II-2 and II-4, had FS, and one, II-3, had FS+(Wallace RH, et al. Am J Hum Genet. 2001 Apr;68(4):859-65.[11254444]).

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.