Further characterisation ofARX-related disorders in females due to inherited or de novo variants

A novel ARX loss of function variant in female monozygotic twins is associated with chorea

(2021) Jonathan Rodgers et al.   European Journal of Medical Genetics

X-linked diseases: susceptible females

(2020) Barbara R. Migeon   GENETICS IN MEDICINE

Constraint and conservation of the paired‐type homeodomains predicts the clinical outcome of missense variants of uncertain significance

(2020) Monica Thai et al.   HUMAN MUTATION

Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance

(2020) Alice Traversa et al.   Molecular Genetics & Genomic Medicine

ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV

(2019) Anna Ka-Yee Kwong et al.   BRAIN & DEVELOPMENT

Whole-exome sequencing in fetuses with central nervous system abnormalities

(2018) Adi Reches et al.   Journal of Perinatology

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless- Related Homeodomain Transcription Factor ARX

(2017) Tessa Mattiske et al.   HUMAN MUTATION

X inactivation and reactivation in X-linked diseases

(2016) Marcella Vacca et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Buccal swab as a reliable predictor for X inactivation ratio in inaccessible tissues

(2015) Bas de Hoon et al.   JOURNAL OF MEDICAL GENETICS

Unraveling the pathogenesis ofARXpolyalanine tract variants using a clinical and molecular interfacing approach

(2015) Isabel Marques et al.   Molecular Genetics & Genomic Medicine

Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy

(2015) Anna Ka-Yee Kwong et al.   PLoS One

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

(2014) Aurore Curie et al.   Orphanet Journal of Rare Diseases

ARX Regulates Cortical Intermediate Progenitor Cell Expansion and Upper Layer Neuron Formation Through Repression of Cdkn1c

(2013) Gaia Colasante et al.   CEREBRAL CORTEX

CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy

(2013) Ghayda M. Mirzaa et al.   PEDIATRIC NEUROLOGY

Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation inARX

(2012) Renske Oegema et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of theARXgene: rethinking theARXphenotype in females

(2012) E Bettella et al.   CLINICAL GENETICS

Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX

(2011) Valerio Conti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females

(2011) Yaman Z. Ekşioğlu et al.   EPILEPSIA

ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression

(2011) C. Shoubridge et al.   HUMAN MOLECULAR GENETICS

Familial Ohtahara syndrome due to a novel ARX gene mutation

(2010) L. Giordano et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

(2010) Mireille Cossée et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ARX spectrum disorders: making inroads into the molecular pathology

(2010) Cheryl Shoubridge et al.   HUMAN MUTATION

Clinical study of two brothers with a novel 33 bp duplication in theARXgene

(2009) Michelle K. Demos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

(2009) Eric Marsh et al.   BRAIN

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)

(2009) Tod Fullston et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG)

(2008) Shin Okazaki et al.   ACTA NEUROPATHOLOGICA

Expansion of the ARX spectrum

(2008) Robert Wallerstein et al.   CLINICAL NEUROLOGY AND NEUROSURGERY