SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
669	IVS14	c.2589+3A>T	DIIS4	Splice donor site	Del exon 14; LOF	SMEI	De novo	Harkin LA.2007
						SMEI	De novo	Sun H.2010
						SMEI	NA	Wang JW.2012
						SMEI	NA	Wang JW.2012
						IE	NA	Wang JW.2012
						SME	NA	Xu X.2014
						SME	De novo	Djemie T.2016
						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
14	c.2589+3A>T	p.Val806_Leu863del(V806_L863del)	DIIS4	SMEI	LOF	No measurable sodium current.	Liu Y.2013

Functional information:

Number	Intron	Nucleotide change	Phenotype	Details of the abnormal result	Protein change	Reference
3	IVS 14	c.2589+3A>T	SMEI	Deletion of exon 14.	p.Val806_Leu863del	Liu Y, Ann Neurol. 2013: 74(1):128-39

[c.2589+3A>T] Clinical description
There was no detail description in article but the female patient had presented with the first seizure at the age of four months, and no family history of convulsion disorder. SMEI was defined according to the following criteria: onset in the first year of life of convulsive seizures which were hemiclonic or generalized; myoclonic seizures; other seizure types which could include focal seizures, absence seizures, atonic seizures, tonic seizures; normal development in the first year of life with subsequent slowing including plateauing or regression; generalized spike-wave activity and either normal MRI or non-specific findings(Harkin LA, et al. Brain. 2007 Mar;130(Pt 3):843-52. [17347258]).

[c.2589+3A>T] Clinical description

There was no detail description in article but the female patient had presented with the first seizure at the age of four months, and no family history of convulsion disorder. SMEI was defined according to the following criteria: onset in the first year of life of convulsive seizures which were hemiclonic or generalized; myoclonic seizures; other seizure types which could include focal seizures, absence seizures, atonic seizures, tonic seizures; normal development in the first year of life with subsequent slowing including plateauing or regression; generalized spike-wave activity and either normal MRI or non-specific findings(Harkin LA, et al. Brain. 2007 Mar;130(Pt 3):843-52. [17347258]).

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.