ARX mutation-associated interneuron defects provide insights into mechanisms underlying developmental epilepsies.

doi:10.1093/brain/awag036

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Article

ARX mutation-associated interneuron defects provide insights into mechanisms underlying developmental epilepsies.

Brain : a journal of neurology - 7 Sept 2026

Lim Youngshin, Akula Shyam K, Myers Abigail K, Chen Connie, Rafael Katherine A, Ibach Michaela G, Trevathan Edwin, Walsh Christopher A, Golden Jeffrey, Cho Ginam

Abstract excerpt

Cortical interneuron (cIN) dysfunction is associated with various neurodevelopmental and neurological disorders, including developmental epilepsies, autism spectrum disorders and intellectual disabilities. Mutations in ARX (aristaless-related homeobox) are linked to these conditions, with or without accompanying structural brain anomalies. We previously demonstrated that the loss of Arx in the mouse ganglionic...

Read the complete abstract on PubMed

Topics

Animals
Mice
Transcription Factors
Interneurons
Homeodomain Proteins
Ganglionic Eminence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mutation

Epilepsy

Mice, Transgenic

Thyroid Nuclear Factor 1

Cerebral Cortex

Female

Cell Movement

Somatostatin

Source

Open in PubMed Open full text

Identifiers

PMID: 41630162
DOI: 10.1093/brain/awag036
PMCID: PMC13548863

Genes

ARX
LMO1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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