Genopathy
Gene-Disorder Association · Article
Gene
GRIN2A
Glutamate Ionotropic Receptor NMDA Type Subunit 2A
Association Review

In brief

The association between GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A) and Benign Epilepsy With Centrotemporal Spikes is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 13
Symptoms 0
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.

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02
Provenance

Evidence and sources

1 source

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

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03
GRIN2A

The gene

2 source summaries

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

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04
Benign Epilepsy With Centrotemporal Spikes

The disorder

5 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

13 clinical variants

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

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06
Literature

Reading

1 publication

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

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07
Provenance

References & sources

4 references

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

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