SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
450	9	c.1276T>A	p.Tyr426Asn	DI-DII	Missense	P/O→P/O (143); pLOF	SMEI	De novo	Nabbout R.2003
							SMEI	NA	Ohmori I.2006
							SMEI	NA	Allen NM.2016

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
9	c.1276T>A	p.Tyr426Asn(Y426N)	DI-DII (D-linkers)	SMEI	pLOF	Reduced current density, reduced channel availability by negative shift of inactivation and slower recovery from inactivation.	Ohmori I.2006

[c.1276T>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 2 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]).

[c.1276T>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 2 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.