Journal article

The genetic basis of cerebral palsy

Michael C Fahey, Alastair H Maclennan, Doris Kretzschmar, Jozef Gecz, Michael C Kruer

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | WILEY | Published : 2017

Abstract

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. Analo..

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