A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and …
YZ Ekşioğlu, AW Pong, M Takeoka - Epilepsia, 2011 - Wiley Online Library
Purpose: ARX, the aristaless‐related homeobox gene, is implicated in cerebral, testicular,
and pancreatic development. ARX mutations are associated with various forms of epilepsy …
and pancreatic development. ARX mutations are associated with various forms of epilepsy …
[HTML][HTML] Ohtahara syndrome in a family with an ARX protein truncation mutation (c. 81C> G/p. Y27X)
T Fullston, L Brueton, T Willis, S Philip… - European journal of …, 2010 - nature.com
Aristaless-related homeobox (ARX) gene mutations cause a diverse spectrum of disorders
of the human brain, including lissencephaly, various forms of epilepsy and non-syndromic …
of the human brain, including lissencephaly, various forms of epilepsy and non-syndromic …
An Emerging Female Phenotype with Loss‐of‐Function Mutations in the Aristaless‐Related Homeodomain Transcription Factor ARX
The devastating clinical presentation of X‐linked lissencephaly with abnormal genitalia
(XLAG) is invariably caused by loss‐of‐function mutations in the Aristaless‐related …
(XLAG) is invariably caused by loss‐of‐function mutations in the Aristaless‐related …
Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene
H Hartmann, G Uyanik, C Gross, U Hehr… - …, 2004 - thieme-connect.com
Mutations in the Aristaless-related homeobox (ARX) gene are associated with a broad
spectrum of disorders including X-linked lissencephaly with abnormal genitalia (XLAG) and …
spectrum of disorders including X-linked lissencephaly with abnormal genitalia (XLAG) and …
Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice
K Kitamura, Y Itou, M Yanazawa… - Human molecular …, 2009 - academic.oup.com
ARX (the aristaless-related homeobox gene) is a transcription factor that participates in the
development of GABAergic and cholinergic neurons in the forebrain. Many ARX mutations …
development of GABAergic and cholinergic neurons in the forebrain. Many ARX mutations …
Splice variant in ARX leading to loss of C‐terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy
Pathogenic variants in the X‐chromosome Aristaless‐related homeobox (ARX) gene
contribute to intellectual disability, epilepsy, and associated comorbidities in affected males …
contribute to intellectual disability, epilepsy, and associated comorbidities in affected males …
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
K Kitamura, M Yanazawa, N Sugiyama, H Miura… - Nature …, 2002 - nature.com
Male embryonic mice with mutations in the X-linked aristaless-related homeobox gene (Arx)
developed with small brains due to suppressed proliferation and regional deficiencies in the …
developed with small brains due to suppressed proliferation and regional deficiencies in the …
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females
Mutations in the X-linked aristaless-related homeobox gene (ARX) have been linked to
structural brain anomalies as well as multiple neurocognitive deficits. The generation of Arx …
structural brain anomalies as well as multiple neurocognitive deficits. The generation of Arx …
Frameshift mutations of the ARX gene in familial Ohtahara syndrome
M Kato, N Koyama, M Ohta, K Miura, K Hayasaka - Epilepsia, 2010 - Wiley Online Library
Purpose: Ohtahara syndrome is one of the most severe and earliest forms of epilepsy and is
frequently associated with brain malformations, such as hemimegalencephaly. Recently …
frequently associated with brain malformations, such as hemimegalencephaly. Recently …
[引用][C] ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism
HV Esch, K Poirier, F Zegher, M Holvoet… - Clinical …, 2004 - Wiley Online Library
The Aristaless-related homeobox gene, ARX, has been implicated in X-linked mental
retardation (MR) associated with a wide range of neurological manifestations, including …
retardation (MR) associated with a wide range of neurological manifestations, including …