ArticleFrontiers in cellular neuroscience2010
Mutations in ARX Result in Several Defects Involving GABAergic Neurons.
Article in Frontiers in cellular neuroscience, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 1 of them a synthesis that pooled it.
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Who cites it
64 citing papers in PubMed, 1 synthesis or guideline pooled it, 107 citations in OpenAlex.
- Managing Dystonia in Partington Syndrome.Movement disorders clinical practice · 2026Pooled it
- Reduction of forebrain interneurons alters cellular organization and cortical neurogenesis in a mouse model of X-linked intellectual disability.bioRxiv : the preprint server for biology · 2026Article
- ARX mutation-associated interneuron defects provide insights into mechanisms underlying developmental epilepsies.Brain : a journal of neurology · 2026Article
- Dual developmental effects of ARX poly-alanine mutations on human cortical excitatory and inhibitory neurons.Cell reports · 2026Article
- Cellular Functional Analyses ofHuman mutation · 2026Article
- Defining the Cis-Regulatory Elements of SCN1A in GABAergic Interneurons.Molecular neurobiology · 2025Article
- Hippocampal Development and Epilepsy: Insights from Organoid Models.Brain sciences · 2025Review
- Understanding the Molecular Basis of Miller-Dieker Syndrome.International journal of molecular sciences · 2025Review
- Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies.Biomolecules · 2025Review
- Arx revisited: involved in the development of GABAergic interneurons.Frontiers in cell and developmental biology · 2025Review
- RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis.Molecular genetics & genomic medicine · 2025Article
- The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a NovelInternational journal of molecular sciences · 2024Article
- Genotype-driven therapeutics in DEE and metabolic epilepsy: navigating treatment efficacy and drug resistance.Scientific reports · 2024Article
- The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome.Annals of clinical and translational neurology · 2024Article
- Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine.Genes · 2024Review
- Phenotypes of a female patient with novel de novo frameshift ARX variant identified by whole-exome sequencing: a case report.Annals of medicine and surgery (2012) · 2023Article
- Bypassing Mendel's First Law: Transmission Ratio Distortion in Mammals.International journal of molecular sciences · 2023Review
- Transcription factors in microcephaly.Frontiers in neuroscience · 2023Review
- Generation of FLAG-tagged Arx knock-in mouse model.Genesis (New York, N.Y. : 2000) · 2022Article
- Genetic Regulation of Vertebrate Forebrain Development by Homeobox Genes.Frontiers in neuroscience · 2022Review
4 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic investigations of X-linked mental retardation have demonstrated the implication of ARX in a wide spectrum of disorders extending from phenotypes with severe neuronal migration defects, such as lissencephaly, to mild or moderate forms of mental retardation without apparent brain abnormalities, but with associated features of dystonia and epilepsy. These investigations have in recent years directed attention to the role of this gene in brain development. Analysis of its spatio-temporal localization profile revealed expression in telencephalic structures at all stages of development, mainly restricted to populations of GABA-containing neurons. Furthermore, studies of the effects of ARX loss of function either in humans or in lines of mutant mice revealed varying defects, suggesting multiple roles of this gene during development. In particular, Arx has been shown to contribute to almost all fundamental processes of brain development: patterning, neuronal proliferation and migration, cell maturation and differentiation, as well as axonal outgrowth and connectivity. In this review, we will present and discuss recent findings concerning the role of ARX in brain development and how this information will be useful to better understand the pathophysiological mechanisms of mental retardation and epilepsy associated with ARX mutations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.