Further characterisation of ARX-related disorders in females due to inherited or de novo variants
M Gras, S Heide, B Keren, S Valence… - Journal of Medical …, 2024 - jmg.bmj.com
… The Aristaless-related homeobox (ARX) gene is located on … sequence motifs and a C-terminal
Aristaless domain.1 The … . A novel Mutation of the ARX gene in a male with Nonsyndromic …
Aristaless domain.1 The … . A novel Mutation of the ARX gene in a male with Nonsyndromic …
A novel ARX loss of function variant in female monozygotic twins is associated with chorea
J Rodgers, S Calvert, C Shoubridge… - European Journal of …, 2021 - Elsevier
… , hydranencephaly and ambiguous genitalia in males. We … She has global developmental
delay that predated the onset of … in the Aristaless and C-terminal region of ARX leading to …
delay that predated the onset of … in the Aristaless and C-terminal region of ARX leading to …
Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability
L Poeta, M Malacarne, A Padula, D Drongitis… - International journal of …, 2022 - mdpi.com
… X-linked gene encoding aristaless-related homeobox (ARX) … ID, speech delay, hypotonia
and psychiatric abnormalities. … ESs, the Arx gene is associated to a binding domain (number 9) …
and psychiatric abnormalities. … ESs, the Arx gene is associated to a binding domain (number 9) …
Aristaless-Related Homeobox (ARX): Epilepsy Phenotypes beyond Lissencephaly and Brain Malformations
B Scalia, V Venti, LM Ciccia, R Criscione… - Journal of Pediatric …, 2023 - thieme-connect.com
… severe and complex neurological conditions and in particular … such as WS and Ohtahara
syndrome) does not necessarily … , and male genotype with ambiguous genitalia. Clinical …
syndrome) does not necessarily … , and male genotype with ambiguous genitalia. Clinical …
Type 1 early infantile epileptic encephalopathy: A case report and literature review
E Zaker, N Nouri, M Movahedinia… - … Genetics & Genomic …, 2024 - Wiley Online Library
… in the Aristaless-related homeobox (ARX) gene lead to a … X-linked Ohtahara syndrome or
Type 1 early infantile epileptic … lysencephaly and ambiguous genitals, the ARX protein appears …
Type 1 early infantile epileptic … lysencephaly and ambiguous genitals, the ARX protein appears …
Splice variant in ARX leading to loss of C‐terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy
… disorder, epilepsy, lissencephaly, and ambiguous genitalia. … of ARX would mean the loss of
the Aristaless domain of ARX. … with ARX, including Ohtahara syndrome and West syndrome. …
the Aristaless domain of ARX. … with ARX, including Ohtahara syndrome and West syndrome. …
Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability
Y Benmakhlouf, R Touraine, I Harzallah, Z Zian… - BMC Research …, 2021 - Springer
… Mutations in the Aristaless Related Homeobox gene (ARX) … mutations, of the ARX gene affect
males more than females [… ) of the ARX gene in 118 males with NS-ID, and no mutation has …
males more than females [… ) of the ARX gene in 118 males with NS-ID, and no mutation has …
The maternal immune activation model uncovers a role for the Arx gene in GABAergic dysfunction in schizophrenia
… found in exon 5 of the ARX gene caused a range of neuropsychiatric disorders … aristaless
domain of the ARX gene, and was found to result in Ohtahara syndrome, (ambiguous genitalia, …
domain of the ARX gene, and was found to result in Ohtahara syndrome, (ambiguous genitalia, …
Neonatal developmental and epileptic encephalopathies
… 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 …
global developmental delay, and ambiguous genitalia in males and neuropsychiatric …
Analysis of a set of KDM5C regulatory genes mutated in neurodevelopmental disorders identifies temporal coexpression brain signatures
L Poeta, A Padula, MB Lioi, H van Bokhoven… - Genes, 2021 - mdpi.com
… transcriptional regulators Aristaless related-homeobox (ARX), … of the corpus callosum and
ambiguous genitalia (XLAG; MIM:… that the neurological diseases linked to this set of genes can …
ambiguous genitalia (XLAG; MIM:… that the neurological diseases linked to this set of genes can …