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Dev Med Child Neurol. 2017 May;59(5):462-469. doi: 10.1111/dmcn.13363. Epub 2017 Jan 1.

The genetic basis of cerebral palsy.

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Department of Paediatrics, Monash University, Melbourne, VIC, Australia.
The Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.
Oregon Institute of Occupational Health Sciences, Oregon Health and Science University, Portland, OR, USA.
South Australian Health & Medical Research Institute, Adelaide, SA, Australia.
Departments of Child Health, Neurology and Genetics, University of Arizona, College of Medicine, Phoenix, AZ, USA.
Programs in Neuroscience and Molecular & Cellular Biology, Arizona State University, Tempe, AZ, USA.
Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.


Although prematurity and hypoxic-ischaemic injury are well-recognized contributors to the pathogenesis of cerebral palsy (CP), as many as one-third of children with CP may lack traditional risk factors. For many of these children, a genetic basis to their condition is suspected. Recent findings have implicated copy number variants and mutations in single genes in children with CP. Current studies are limited by relatively small patient numbers, the underlying genetic heterogeneity identified, and the paucity of validation studies that have been performed. However, several genes mapping to intersecting pathways controlling neurodevelopment and neuronal connectivity have been identified. Analogous to other neurodevelopmental disorders such as autism and intellectual disability, the genomic architecture of CP is likely to be highly complex. Although we are just beginning to understand genetic contributions to CP, new insights are anticipated to serve as a unique window into the neurobiology of CP and suggest new targets for intervention.

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