SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
676	15	c.2593C>G	p.Arg865Gly	DIIS4	Missense	P/﹢→N (125); G-LOF	SMEI	NA	Volkers L.2011

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
15	c.2593C>G	p.Arg865Gly(R865G)	DIIS4	SMEI	G-LOF	A large increase in persistent current, and a hyperpolarized shift in the voltage dependence of activation in combination with the unaltered voltage dependence of inactivation; slower recovery from inactivation.	Volkers L.2011

[c.2593C>G] Clinical description
The novel R865G mutation was detected in a boy who had right-sided hemiconvulsions with postictal hemiparesis since the age of nine months. He also experienced myoclonic jerks and complex partial seizures. His EEGs showed a near normal background pattern with isolated sharps and sharp waves in both hemispheres. He was diagnosed with DS. Magnetic resonance brain imaging was normal. At the age of 60 months, he was deemed to have a severe developmental delay with a developmental age of 29 months. After addition of levetiracetam to valproate and lamotrigine at the age of 6.5 years he is seizure free till to date.His family history was negative for febrile convulsions and epilepsy. His parents are consanguineous. DNA analysis of the parents was not available(Volkers L,et al. Eur J Neurosci. 2011 Oct;34(8): 1268-75. [21864321]).

[c.2593C>G] Clinical description

The novel R865G mutation was detected in a boy who had right-sided hemiconvulsions with postictal hemiparesis since the age of nine months. He also experienced myoclonic jerks and complex partial seizures. His EEGs showed a near normal background pattern with isolated sharps and sharp waves in both hemispheres. He was diagnosed with DS. Magnetic resonance brain imaging was normal. At the age of 60 months, he was deemed to have a severe developmental delay with a developmental age of 29 months. After addition of levetiracetam to valproate and lamotrigine at the age of 6.5 years he is seizure free till to date.His family history was negative for febrile convulsions and epilepsy. His parents are consanguineous. DNA analysis of the parents was not available(Volkers L,et al. Eur J Neurosci. 2011 Oct;34(8): 1268-75. [21864321]).

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.