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Article

Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female Patients.

Human mutation - 1 Jan 2026

Faraj Rasha, Farrugia Audrey, Hurst Anna C E, Conan Pierre, Martin Jennifer, Schalk Audrey, Redon Sylvia, Dubos Aline, Gras Mathilde, Curie Aurore, Voisset Cécile, Friocourt Gaëlle

Abstract excerpt

Neurodevelopmental disorders (NDDs) encompass a wide range of conditions often linked to genetic causes, with mutations in the X-linked ARX gene representing a recurrent contributor. ARX encodes a transcription factor critical for GABAergic neuron development and functioning, regulating the expression of key neurodevelopmental target genes. Variants in ARX result in a wide clinical spectrum, ranging from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41960368
DOI: 10.1155/humu/4732622
PMCID: PMC13058441

Genes

ARX
TLE1

Provenance

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

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