SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1351	26	c.5054C>T	p.Ala1685Val	DIVS5	Missense	N→N (64); pLOF	PEFS+	Familial(Paternal,PEFS+),P=5/5	Sugawara T.2001

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
44	c.5054C>T	p.Ala1685Val(A1685V)	DIVS5	PEFS+ ^f	LOF	No measurable sodium current.	Sugiura Y.2012

Inheritance information:

Number	Nucleotide change	Protein change	Mutation type	Proband's phenotype	1st transmitter's phenotype	Mosaic	Affected generations	Penetrance	Reference
116	c.5054C>T	p.Ala1685Val(DIVS5)	Missense	PEFS+	PEFS+(Paternal)			5/5	Sugawara T.2001

[c.5054C>T] Clinical description
In this family, the affected members reportedly had frequent seizures, both febrile and afebrile, during infancy and subsequently developed epilepsies. An autosomal dominant inheritance for the epilepsy phenotype was suggested. The seizure phenotypes observed in the affected family members seemed compatible with partial epilepsies, except for the proband’s one-year-old sister (III-2), who had only FS at the time of the study. Partial epilepsy of the proband, a 6-year-old girl, was confirmed by EEG and [18F]fluorodeoxyglucose PET, which showed a right frontal focus(Sugawara T, et al. Neurology. 2001 Aug 28;57(4):703-5.[11524484]).

[c.5054C>T] Clinical description

In this family, the affected members reportedly had frequent seizures, both febrile and afebrile, during infancy and subsequently developed epilepsies. An autosomal dominant inheritance for the epilepsy phenotype was suggested. The seizure phenotypes observed in the affected family members seemed compatible with partial epilepsies, except for the proband’s one-year-old sister (III-2), who had only FS at the time of the study. Partial epilepsy of the proband, a 6-year-old girl, was confirmed by EEG and [18F]fluorodeoxyglucose PET, which showed a right frontal focus(Sugawara T, et al. Neurology. 2001 Aug 28;57(4):703-5.[11524484]).

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.