Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

SCN1A

contributors: mct - updated : 03-02-2017

HGNC name	sodium channel, voltage-gated, type I, alpha subunit
HGNC id	10585

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

GEFSP2 , SMEI2 , DEL2Q24

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       sporadic autistic disorder constitutional       loss of function may disrupt information processing in Dravet syndrom via a dysregulation of brain rhythms constitutional       loss of function dysfunction in SCN1A is increasingly being linked to neuropsychiatric abnormalities, social deficits and cognitive disabilities

Susceptibility

to Rasmussen encephalitis to Dravet syndrome to autism spectrum disorder

Variant & Polymorphism other	R1575C mutation identified in a patient with Rasmussen encephalitis
	putative disease-associated haplotype in two patients affected with Dravet syndrome

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	mice with Scn1a haploinsufficiency display hyperactivity, stereotyped behaviors, social interaction deficits, and impaired context-dependent spatial memory
	Scn1a+/- mice exhibit hyperactivity, increased anxiety, and increased stereotyped behaviors, which are phenocopies of autistic traits in Dravet sdr