Genomic analysis identifies masqueraders of full-term cerebral palsy.

Yusuke TakezawaAtsuo KikuchiKazuhiro HaginoyaTetsuya NiihoriYurika Numata-UematsuTakehiko InuiSaeko Yamamura-SuzukiTakuya MiyabayashiMai AnzaiSato Suzuki-MuromotoYukimune OkuboWakaba EndoNoriko TogashiYasuko KobayashiAkira OnumaRyo FunayamaMatsuyuki ShirotaKeiko NakayamaYoko AokiShigeo Kure

Published in: Annals of clinical and translational neurology (2018)

The high rate of detecting causative genetic variants (52.9%) suggests that patients diagnosed with cerebral palsy in full-term births without specific MRI findings may include genetic diseases masquerading as cerebral palsy.

Keyphrases

cerebral palsy
end stage renal disease
gestational age
preterm infants
ejection fraction
genome wide
chronic kidney disease
newly diagnosed
magnetic resonance imaging
peritoneal dialysis
gene expression
patient reported outcomes
computed tomography
copy number