SCN3A

Chr 2AD

sodium voltage-gated channel alpha subunit 3

Also known as: DEE62, EIEE62, FFEVF4, NAC3, Nav1.3

NCBI Gene: 6328 ENSG00000153253 UniProt: Q9NY46 OMIM: 182391

Encodes a voltage-gated sodium channel alpha subunit that generates and propagates action potentials in neurons. Mutations cause developmental and epileptic encephalopathy 62 and familial focal epilepsy with variable foci through an autosomal dominant inheritance pattern. The gene is highly intolerant to loss-of-function variants, and mutations can cause disease predominantly through gain-of-function effects.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 62MIM #617938

Epilepsy, familial focal, with variable foci 4MIM #617935

Clinical highlights

Gene-disease validity (ClinGen)

genetic developmental and epileptic encephalopathy · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Both gain of function and loss of function mechanisms are described for this gene and which one applies is variant-dependent. Do not assume a null variant is — or isn't — the pathogenic class without checking the specific variant against curated evidence.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.17

LOEUF· LoF intol.

GOF/LOF*

Mechanism· annotated

📖

GeneReview available — SCN3A