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

Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice

(2018) B. Tumienė et al.   CLINICAL GENETICS

Status dystonicus due to missense variant in ARX : Diagnosis and management

(2018) Kathleen M. Gorman et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

(2017) Tessa Mattiske et al.   HUMAN MUTATION

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

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

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

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

(2013) Gaia Colasante et al.   CEREBRAL CORTEX

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

Frameshift mutations of the ARX gene in familial Ohtahara syndrome

(2010) Mitushiro Kato et al.   EPILEPSIA

ARX spectrum disorders: making inroads into the molecular pathology

(2010) Cheryl Shoubridge et al.   HUMAN MUTATION

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

Expansion of the ARX spectrum

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