SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
409	9	c.1178G>A	p.Arg393His	DIS5-S6	Missense	P/﹢→P/﹢(29); LOF	SMEI	De novo	Claes L.2003
							SMEI	De novo	Marini C.2007
							SMEI	De novo	Sun H.2010
							SMEI	De novo	Zuberi SM.2011
							IE	NA	Wang JW.2012
							SMEB	NA	Wang JW.2012
							SMEI	NA	Lemke JR.2012
							SMEI	NA	Rilstone JJ.2012
							SME	NA	Xu X.2014
							SME	De novo	Djemie T.2016
							SMEI	NA	Haginoya K.2018
							Epilepsy and/or NDD	NA	Lindy AS.2018

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
8	c.1178G>A	p.Arg393His(R393H)	DIS5-S6	SMEI	LOF	No measurable sodium current.	Ohmori I.2006

[c.1178G>A] Clinical description
The first seizure of the patient was presented with myoclonic seizure at the age of six months, and then myoclonic seizure frequency was daily. Thereafter the patent occurred other seizures including secondary generalized tonic clonic seizures, absence seizures, complex partial seizures and status epilepticus. The patient had severe mental retardation, ataxia and therapy resistant during following up for 7.5 years(Claes L,et al. Hum Mutat. 2003 Jun;21(6):615-21.[12754708]).

[c.1178G>A] Clinical description

The first seizure of the patient was presented with myoclonic seizure at the age of six months, and then myoclonic seizure frequency was daily. Thereafter the patent occurred other seizures including secondary generalized tonic clonic seizures, absence seizures, complex partial seizures and status epilepticus. The patient had severe mental retardation, ataxia and therapy resistant during following up for 7.5 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.