SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1270	23	c.4465C>A	p.Gln1489Lys	DIII-DIV	Missense	P/O→P/﹢(53); pLOF	FHM	Familial(Maternal,FHM),p=13/13	Dichgans M.2005

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
33	c.4465C>A	p.Gln1489Lys(Q1489K)	DIII-DIV	FHM ^f	pLOF	Increased persistent current but also enhanced entry into slow inactivation as well as delayed recovery from fast and slow inactivation, thus resulting in a predominantly loss-of-function phenotype further demonstrated by a greater loss of channel availability during repetitive stimulation.	Kahlig KM.2008

Inheritance information:

Number	Nucleotide change	Protein change	Mutation type	Proband's phenotype	1st transmitter's phenotype	Mosaic	Affected generations	Penetrance	Reference
117	c.4465C>A	p.Gln1489Lys(DIII-DIV)	Missense	FHM	FHM(Maternal)			13/13	Dichgans M.2005

[c.4465C>A] Clinical description
Three families with eighteen affected members is presented in article, including family 10, 15, 16. All of affected individuals experienced hemiplegic migraine with frequency from weekly to yearly and duration from 20 minutes to 2days (Dichgans M, et al. Lancet. 2005 Jul 30-Aug 5;366(9483):371-7.[16054936]).

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.