Article
Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping?
NeuroImage. Clinical - 1 Jan 2018
Curie Aurore, Friocourt Gaëlle, des Portes Vincent, Roy Alice, Nazir Tatjana, Brun Amandine, Cheylus Anne, Marcorelles Pascale, Retzepi Kalliroi, Maleki Nasim, Bussy Gérald, Paulignan Yves, Reboul Anne, Ibarrola Danielle, Kong Jian, Hadjikhani Nouchine, Laquerrière Annie, Gollub Randy L
Abstract excerpt
The ARX (Aristaless Related homeoboX) gene was identified in 2002 as responsible for XLAG syndrome, a lissencephaly characterized by an almost complete absence of cortical GABAergic interneurons, and for milder forms of X-linked Intellectual Disability (ID) without apparent brain abnormalities. The most frequent mutation found in the ARX gene, a duplication of 24 base pairs (c.429_452dup24) in exon 2, results in...
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