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Article

Novel ADAR2 variants in children with seizures, intellectual disability, and motor delay have reduced RNA editing.

RNA (New York, N.Y.) - 18 Aug 2025

Du Qiupei, Cherian Anna, Louie Raymond J, Barcia Giulia, Rudy Natasha L, Nabbout Rima, Sarda Eugénie, Charpié Maelle, Patterson Wesley G, Keegan Liam P, O'Connell Mary A

Abstract excerpt

The ADARB1 gene encodes the adenosine deaminase acting on RNA 2 (ADAR2) RNA editing enzyme, which edits the GRIA2 transcript Q/R editing site with almost 100% efficiency in the nervous system. The edited GRIA2 R transcript encodes the GLUA2 R subunit isoform of tetrameric α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors, which is essential to prevent seizures associated with aberrantly...

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Share to Adenosine Deaminase
Share to Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, AMPA

Share to RNA-Binding Proteins

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Source

Open in PubMed Open full text

Identifiers

PMID: 40480833
DOI: 10.1261/rna.080600.125
PMCID: PMC12360208

Genes

GRIA2
ADARB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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