Associated Papers
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.
Ekşioğlu YZ et al.
Epilepsia, 2011
ARX spectrum disorders: making inroads into the molecular pathology.
Shoubridge C et al.
Human Mutation, 2010
ARX: a gene for all seasons.
Gécz J et al.
Current Opinion in Genetics & Development, 2006
X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Kleefstra T et al.
Clinical Genetics, 2005
X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
Kato M et al.
Journal of Child Neurology, 2005
X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting.
Hahn A et al.
Neuropediatrics, 2004
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.
Sherr EH
Current Opinion in Pediatrics, 2003
ARX mutations in X-linked lissencephaly with abnormal genitalia.
Uyanik G et al.
Neurology, 2003
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
Kitamura K et al.
Nature Genetics, 2002
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