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

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

A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder

(2009) MICHAEL ABSOUD et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The Roles of Multiple Importins for Nuclear Import of Murine Aristaless-related Homeobox Protein

(2009) Wenbo Lin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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 first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms

(2008) Yuko Shinozaki et al.   BRAIN & DEVELOPMENT

Expansion of the ARX spectrum

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

Combination of infantile spasms, non-epileptic seizures and complex movement disorder: A new case of ARX-related epilepsy

(2008) Karine Poirier et al.   EPILEPSY RESEARCH

Association of Extremely Skewed X-chromosome Inactivation with Taiwanese Women Presenting with Recurrent Pregnancy Loss

(2008) Pao-Lin Kuo et al.   JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION