… a male proband with Ohtahara syndrome and profound psychomotor delay, with a novel
mutation (c.… Herein we describe a 7-month-old boy with EIEE/Ohtahara syndrome and global …

… A novel mutation in the aristaless-related homeobox (ARX) … with abnormal genitalia, Ohtahara
syndrome (early infantile … only ambiguous genitalia and global developmental delay with …

… 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 …

… Deletion of the aristaless domain in the Otp reduces the transactivation … Ohtahara syndrome,
WS, and LGS, specific mutations of the ARX gene at Xp22.13 have been found in male …

… , X-linked lissencephaly with ambiguous genitalia, X-linked … of Ohtahara syndrome was
also reported in two unrelated male patients … A novel mutation of the ARX gene in a male with …

… Ohtahara syndrome p. … X-linked lissencephaly and ambiguous genitalia XLID …
development delay are subsequently classified as having ID later in life, when IQ testing can …

… 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 …