Mol Genet Metab 2021 Nov 8. Epub 2021 Nov 8.
Department of Pediatrics, Amalia Children's Hospital, Radboud Centre for Mitochondrial Diseases, Radboud University Medical Center, Nijmegen, the Netherlands; Departments of Human Genetics and Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centres, Amsterdam, the Netherlands; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada. Electronic address:
Cerebral palsy (CP) is a debilitating condition characterized by abnormal movement or posture, beginning early in development. Early family and twin studies and more recent genomic investigations clearly demonstrate that genetic factors of major effect contribute to the etiology of CP. Most copy number variants and small alterations of nucleotide sequence that cause CP arise as a result of de novo mutations, so studies that estimate heritability on basis of recurrence frequency within families substantially underestimate genetic contributions to the etiology. Read More