SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
152	4	c.530G>A	p.Gly177Glu	DIS2-S3	Missense	N→P/﹣(98); LOF	SMEI	De novo	Nabbout R.2003
							SME	NA	Verbeek NE.2013
							SMEI	n	Usluer S.2016

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
2	c.530G>A	p.Gly177Glu(G177E)	DIS2-S3	SMEI	LOF	No measurable sodium current.	Ohmori I.2006

[c.530G>A] Clinical description

No detail description in article. Files of current patients with SMEI at participating centers were reviewed by a panel of experts who selected those who fulfilled the following criteria: no history of acquired brain injury; normal cognitive and motor development before seizure onset; onset of febrile or afebrile seizures, generalized or unilateral, before age 1 year; myoclonic jerks; intractable epilepsy; psychomotor delay within two years of seizure onset; normal MRI results in the first year of the seizure disorder; and a minimum follow-up of three years.(Nabbout R, et al. Neurology. 2003 Jun 24; 60(12): 1961-7. [12821740])

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.