SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1350	26	c.5054C>A	p.Ala1685Asp	DIVS5	Missense	N→P/﹣(126); LOF	SMEI	De novo	Fujiwara T.2003

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
45	c.5054C>A	p.Ala1685Asp(A1685D)	DIVS5	SMEI	LOF	The mutant channel with and without b1 subunit did not conduct any sodium currents.	Sugiura Y.2012

[c.5054C>A] Clinical description
The first seizure of the male patient, 19-years-old, was presented with generalized tonic-clonic seizures (GTCS) at the age of six months. Thereafter the patient occurred other seizures including myoclonic seizures from two to four years old, and GTCS with weekly after the age of six months. The patient had severe mental decline and ataxia. The patient maternal uncle had febrile convulsion. The CT was normal, and the electroencephalogram analysis showed poly spike-wave complexs and rare spike in frontal region(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).

[c.5054C>A] Clinical description

The first seizure of the male patient, 19-years-old, was presented with generalized tonic-clonic seizures (GTCS) at the age of six months. Thereafter the patient occurred other seizures including myoclonic seizures from two to four years old, and GTCS with weekly after the age of six months. The patient had severe mental decline and ataxia. The patient maternal uncle had febrile convulsion. The CT was normal, and the electroencephalogram analysis showed poly spike-wave complexs and rare spike in frontal region(Fujiwara T,et al. Brain. 2003 Mar;126(Pt 3):531-46. [12566275]).

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.