… a novel mutation in ARX in a family ascertained by a female … , profound developmental
delay, and ambiguous genitalia. … the homeodomain and Aristaless domains. The catastrophic …

… 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 …

… , 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 …

… 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) …

… severe and complex neurological conditions and in particular … such as WS and Ohtahara
syndrome) does not necessarily … , and male genotype with ambiguous genitalia. Clinical …

… The Aristaless-related homeobox gene (ARX) is an important … homeodomain and the Aristaless
domain (Figure 1.1). … multiple seizure and neuropsychiatric disorders, including epilepsy, …

… the case of a boy diagnosed with Ohtahara syndrome. We … at codon 531 within the
aristaless domain 16. Two frame shift … resulting in ambiguous genitalia and psychomotor delay. …

… 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 …

… 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. …

… vesicle release 11 ; aristaless-related homeobox (ARX) acts as a … with ambiguous genitalia
Ohtahara syndrome X-linked … Developmental delay Affected males Severe movement …