Article
Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene.
PloS one - 1 Jan 2023
Fernandez Thomas V, Williams Zsanett P, Kline Tina, Rajendran Shreenath, Augustine Farhan, Wright Nicole, Sullivan Catherine A W, Olfson Emily, Abdallah Sarah B, Liu Wenzhong, Hoffman Ellen J, Gupta Abha R, Singer Harvey S
Abstract excerpt
Motor stereotypies are common in children with autism spectrum disorder (ASD), intellectual disability, or sensory deprivation, as well as in typically developing children ("primary" stereotypies, pCMS). The precise pathophysiological mechanism for motor stereotypies is unknown, although genetic etiologies have been suggested. In this study, we perform whole-exome DNA sequencing in 129 parent-child trios with...
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