Calcium channelopathies and intellectual disability: a systematic review.

Miriam KessiBaiyu ChenJing PengFangling YanLifen YangFei Yin

Published in: Orphanet journal of rare diseases (2021)

Our results suggest that CCs play a major role in ID/GDD. While both gain- and loss-of-function variants are associated with ID/GDD, the mechanisms underlying their involvement need further scrutiny.

Keyphrases

intellectual disability
autism spectrum disorder
copy number
gene expression
dna methylation