Genopathy
Gene-Disorder Association · Article
Gene
SCN1A
Sodium Voltage-Gated Channel Alpha Subunit 1
Disorder
Developmental And Epileptic Encephalopathy 6b
First reported 2001
Supporting publications 20
Key publication · disorder De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.American journal of human genetics · 2001
Manually curated
Association Review

In brief

The association between SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1) and Developmental And Epileptic Encephalopathy 6b 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 120
Symptoms 58
Compounds 0
Trials 0
Publications 20
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
SCN1A

The gene

2 source summaries

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

Request access
04
Developmental And Epileptic Encephalopathy 6b

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

35 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

120 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

20 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access