Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies.

Stacey R Cohen Ingo Helbig Michael C KaufmanLeah Schust MyersLaura ConwayKatherine L Helbig

Published in: Developmental medicine and child neurology (2022)

QoL in DEEs can be assessed through a standardized instrument. QoL only partially overlaps with objective measurements of disease severity and may represent an independent outcome measure in precision medicine trials.

Keyphrases

genome wide
copy number
patient reported outcomes
dna methylation
gene expression