Genopathy
Gene-Disorder Association · Article
Gene
SCN8A
Sodium Voltage-Gated Channel Alpha Subunit 8
Disorder
Myoclonus, Familial, 2
First reported 1975
Supporting publications 1
Key publication · disorder [Neuropathological study of a case of progressive familial myoclonic epilepsy (author's transl)].Rivista di patologia nervosa e mentale · 1975
Manually curated
Association Review

In brief

The association between SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8) and Myoclonus, Familial, 2 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 35
Symptoms 9
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

4 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
SCN8A

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Myoclonus, Familial, 2

The disorder

6 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

5 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

35 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

1 publication

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

8 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access