Brain Channelopathies
Gene: SCN8A

SCN8A (sodium voltage-gated channel alpha subunit 8)
EnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

One family described with familial myoclonus and a missense variant in this gene which segregated in three affected individuals. A different variant (c.4447G>A; p.E1483K) described in families with epilepsy during the first 2 years of life, and at an older age choreo-dystonic attacks that were brought on by stretching, movement initiation, and/or emotional stimuli.
Created: 20 Aug 2020, 8:09 a.m. | Last Modified: 20 Aug 2020, 8:09 a.m.

Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myoclonus, familial, 2, MIM# 618364; epilepsy; paroxysmal kinesigenic dyskinesias

Publications

Created: 20 Aug 2020, 8:09 a.m.
Last Modified: 20 Aug 2020, 8:09 a.m.
Panel version: 0.11

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Myoclonus, familial, 2, MIM# 618364
epilepsy
paroxysmal kinesigenic dyskinesias

OMIM

600702

Clinvar variants

Variants in SCN8A

Penetrance

None

Publications

Panels with this gene