SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1458	26	c.5555T>C	p.Met1852Thr	C-terminal	Missense	N→P/O(81); pLOF	SMEI	Familial(Paternal,FS+),P=5/5	Annesi G.2003

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
51	c.5555T>C	p.Met1852Thr(M1852T)	C-terminal	SMEI ^f	pLOF	Reduced current density that could be partially rescued, with trafficking defect involved.	Rusconi R.2007

Inheritance information:

Number	Nucleotide change	Protein change	Mutation type	Proband's phenotype	1st transmitter's phenotype	Mosaic	Affected generations	Penetrance	Reference
128	c.5555T>C	p.Met1852Thr(C-terminal)	Missense	SMEI	FS+(Paternal)		2	5/5	Annesi G.2003

[c.5555T>C] Clinical description
The mutation is a heterozygous point mutation, which was detected in both affected members of family, but not in their mother, who was unaffected. Notably, one of the affected members of this family is the one with SMEI. His sister, who carried the same mutation, had a milder phenotype of GEFS+, whereas the father, who had died at the time of the study, had FS+(Annesi G,et al. Epilepsia, 2003, 44(9):1257–1258. [12919402]).

[c.5555T>C] Clinical description

The mutation is a heterozygous point mutation, which was detected in both affected members of family, but not in their mother, who was unaffected. Notably, one of the affected members of this family is the one with SMEI. His sister, who carried the same mutation, had a milder phenotype of GEFS+, whereas the father, who had died at the time of the study, had FS+(Annesi G,et al. Epilepsia, 2003, 44(9):1257–1258. [12919402]).

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.