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FLASH GENE

Symbol

SCN8A

contributors: mct - updated : 15-03-2018

HGNC name	sodium channel, voltage gated, type VIII, alpha subunit
HGNC id	10596

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CAAMR , EIEE13

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation       mutated in motor end-plate disease constitutional germinal mutation       associated with cognitive deficits and neuropsychiatric illness constitutional     --over   aberrant overexpression of SCN8A in limbic structures may contribute to some epilepsies, including temporal lobe epilepsy

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology epilepsy   blocking SCN8A channels may be one of the therapeutic benefits of currently used non-selective sodium channel-blocking anti-epileptic drugs, and may improve efficacy in patients with epilepsy neurology epilepsy   potential of selectively targeting SCN8A for the treatment of refractory epilepsy

ANIMAL & CELL MODELS

	spontaneous mouse mutation, Scn8a(9J), that is associated with a chronic movement disorder with early onset tremor and adult onset dystonia
	Scn8a mutant mice have reduced function in both rod and the cone retinal pathways