SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
749	15	c.2836C>T	p.Arg946Cys	DIIS5-S6	Missense	P/﹢→N (180); LOF	SMEI	De novo	Fukuma G.2004
							SMEB	NA	Fukuma G.2004
							SMEI	2De novo	Zuberi SM.2011
							SMEI	De novo	Volkers L.2011
							SMEI	De novo	Wang JW.2012
							SMEB	NA	Wang JW.2012
							SME	NA	Xu X.2014
							SME	NA	Lee HF.2014
							Epilepsy and/or NDD	NA	Lindy AS.2018

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
19	c.2836C>T	p.Arg946Cys(R946C)	DIIS5-S6	SMEI	LOF	No measurable sodium current.	Volkers L.2011

[c.2836C>T] Clinical description
The R946C mutation was detected in a girl diagnosed with DS. She experienced her first seizure at age of 10 months, after a vaccination against DTwcP-IPV and Hib. The majority of her seizures were fever provoked GTCS. Valproate monotherapy controlled her seizure frequency to twice a year. She showed ataxia and a moderate developmental delay. Her IQ was 60 at the age of 5.5 years(Volkers L,et al. Eur J Neurosci. 2011 Oct;34(8): 1268-75. [21864321]).

[c.2836C>T] Clinical description

The R946C mutation was detected in a girl diagnosed with DS. She experienced her first seizure at age of 10 months, after a vaccination against DTwcP-IPV and Hib. The majority of her seizures were fever provoked GTCS. Valproate monotherapy controlled her seizure frequency to twice a year. She showed ataxia and a moderate developmental delay. Her IQ was 60 at the age of 5.5 years(Volkers L,et al. Eur J Neurosci. 2011 Oct;34(8): 1268-75. [21864321]).

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.