Genopathy
Gene-Disorder Association · Article
Gene
GABRA5
Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha5
Disorder
Developmental And Epileptic Encephalopathy
First reported 1985
Key publication · disorder Benign familial neonatal convulsions.Iowa medicine : journal of the Iowa Medical Society · 1985
Manually curated
Association Review

In brief

The association between GABRA5 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha5) and Developmental And Epileptic Encephalopathy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 0
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
GABRA5

The gene

2 source summaries

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

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04
Developmental And Epileptic Encephalopathy

The disorder

2 database identifiers

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

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05
Provenance

References & sources

3 references

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

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