Genopathy
Gene-Disorder Association · Article
Gene
GABRG2
Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma2
Disorder
Focal Epilepsy
First reported 2006
Supporting publications 1
Key publication · gene–disorder Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures.Neuroscience letters · 2006
Key publication · disorder [Roentgenography of cerebral atrophy with focal epilepsy].Revue neurologique · 1950
Manually curated
Association Review

In brief

The association between GABRG2 (Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma2) and Focal Epilepsy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 1
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
GABRG2

The gene

2 source summaries

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

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04
Focal Epilepsy

The disorder

6 database identifiers

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

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05
Literature

Reading

1 publication

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

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06
Provenance

References & sources

5 references

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

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