SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1587	26	c.5246G>A	p.Gly1749Glu	DIVS5-S6	Missense	N→P/﹣(98); pLOF	SMEI	De novo	Claes L.2003

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
47	c.5246G>A	p.Gly1749Glu(G1749E)	DIVS5-S6	SMEI	pLOF	Reduced current density, faster onset of slow inactivation.	Rhodes TH.2004

[c.5246G>A] Clinical description
The first seizure of patient was presented with generalized tonic-clonic seizures (GTCS) with fever at the age of eight months. Thereafter the patient occurred other seizures including secondary GTCS, absence seizures, complex partial seizures, and myoclonic seizures with weekly after two years old. The patient had moderate retardation, ataxia and therapy resistant during following up for 12.5 years(Claes L,et al. Hum Mutat. 2003 Jun;21(6): 615-21. [12754708]).

[c.5246G>A] Clinical description

The first seizure of patient was presented with generalized tonic-clonic seizures (GTCS) with fever at the age of eight months. Thereafter the patient occurred other seizures including secondary GTCS, absence seizures, complex partial seizures, and myoclonic seizures with weekly after two years old. The patient had moderate retardation, ataxia and therapy resistant during following up for 12.5 years(Claes L,et al. Hum Mutat. 2003 Jun;21(6): 615-21. [12754708]).

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.