SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
743	15	c.2817C>G	p.His939Gln	DIIS5-S6	Missense	P/﹢→P/O(24); LOF	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
18	c.2817C>G	p.His939Gln(H939Q)	DIIS5-S6	SMEI	LOF	No measurable sodium current.	Ohmori I.2006

[c.2817C>G] Clinical description
The first seizure of the patient was presented with lateralized tonic-clonic seizure at the age of 4.5 months after 1st vaccination. Thereafter the patent occurred other seizures including secondary generalized tonic clonic seizures, generalized tonic seizures, complex partial seizures and status epilepticus. The patient had moderate mental retardation, ataxia and therapy resistant during following up for 1.9 years(Claes L,et al. Hum Mutat. 2003 Jun;21(6):615-21.[12754708]).

[c.2817C>G] Clinical description

The first seizure of the patient was presented with lateralized tonic-clonic seizure at the age of 4.5 months after 1st vaccination. Thereafter the patent occurred other seizures including secondary generalized tonic clonic seizures, generalized tonic seizures, complex partial seizures and status epilepticus. The patient had moderate mental retardation, ataxia and therapy resistant during following up for 1.9 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.