SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1722	26	c.5674C>T	p.Arg1892X	C-terminal	Nonsense	Haploinsufficiency;pLOF	SMEI	NA	Sugawara T.2002
							SMEI	De novo;NA	Fukuma G.2004
							SMEI	De novo	Mancardi MM.2006
							SMEB-O	De novo	Harkin LA.2007
							SMEI-HHE	NA	Sakakibara T.2009
							SMEI	NA	Zuberi SM.2011
							SMEI	De novo	Nicita F.2010
							SMEI	De novo	Wang JW.2012
							SMEI	NA	Wang JW.2012
							SMEI	NA	Wang JW.2012
							SMEI	NA	Wang JW.2012
							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
53	c.5674C>T	p.Arg1892X (R1881X)	C-Terminal	SMEI	pLOF	Showed a drastic attenuation of the peak Na+ current, small yet detectable sodium currents.	Sugawara T. 2003

[c.5674C>T] Clinical description
The first seizure of the female patient, 6-years-old, was presented with hemiclonic seizures at the age of five months. Thereafter the patent occurred other seizures including myoclonia with daily from 1 year 10 months of age , and generalized tonic clonic seizures with weekly from 1 year of age. The patient's IQ was 80. The patient's maternal aunt had convulsion. The CT and MRI was normal. The electroencephalogram analysis showed spike-wave complex and poly spike-wave complex. The MEG had no dipole clustering(Sugawara T,et al. Neurology. 2002 Apr 9;58(7): 1122-4. [11940708]).

[c.5674C>T] Clinical description

The first seizure of the female patient, 6-years-old, was presented with hemiclonic seizures at the age of five months. Thereafter the patent occurred other seizures including myoclonia with daily from 1 year 10 months of age , and generalized tonic clonic seizures with weekly from 1 year of age. The patient's IQ was 80. The patient's maternal aunt had convulsion. The CT and MRI was normal. The electroencephalogram analysis showed spike-wave complex and poly spike-wave complex. The MEG had no dipole clustering(Sugawara T,et al. Neurology. 2002 Apr 9;58(7): 1122-4. [11940708]).

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.