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

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Title: Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female Patients.
Authors: Faraj R; UMR 1101, LaTIM, Inserm, IMT-A, Univ Brest, Brest, France, inserm.fr.; UMR 1078, GGB, Inserm, EFS, Univ Brest, Brest, France, inserm.fr., Farrugia A; Institut de Médecine Légale de Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France, unistra.fr.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR7104 INSERM U1258, Université de Strasbourg, Illkirch, France, unistra.fr., Hurst ACE; Department of Genetics, University of Alabama, Birmingham, USA, ua.edu., Conan P; UMR 1078, GGB, Inserm, EFS, Univ Brest, Brest, France, inserm.fr., Martin J; UMR 1078, GGB, Inserm, EFS, Univ Brest, Brest, France, inserm.fr., Schalk A; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France, chru-strasbourg.fr., Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.; Reference Centre of Rare Disease With Intellectual Disability and Multiple Disabilities, CHRU de Brest, Brest, France., Dubos A; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR7104 INSERM U1258, Université de Strasbourg, Illkirch, France, unistra.fr., Gras M; Department of Clinical Genetics, APHP Sorbonne Université, University Hospital Pitié Salpêtrière, Paris, France., Curie A; Child Neurology Department and Reference Centre of Rare Disease With Intellectual Disability, Hospices Civils de Lyon, Lyon University Hospital, Lyon, France, chu-lyon.fr.; CNRS UMR5292, INSERM U1028, Lyon Neuroscience Research Centre, Lyon, France, inserm.fr.; Lyon University, Lyon, France, universite-lyon.fr., Voisset C; UMR 1101, LaTIM, Inserm, IMT-A, Univ Brest, Brest, France, inserm.fr.; UMR 1078, GGB, Inserm, EFS, Univ Brest, Brest, France, inserm.fr., Friocourt G; UMR 1101, LaTIM, Inserm, IMT-A, Univ Brest, Brest, France, inserm.fr.; UMR 1078, GGB, Inserm, EFS, Univ Brest, Brest, France, inserm.fr.; Reference Centre of Rare Disease With Intellectual Disability and Multiple Disabilities, CHRU de Brest, Brest, France.
Source: Human mutation [Hum Mutat] 2026 Apr 07; Vol. 2026, pp. 4732622. Date of Electronic Publication: 2026 Apr 07 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1098-1004
DOI:10.1155/humu/4732622