Whole-exome sequencing and electrophysiological study reveal a novel loss-of-function mutation of KCNA10 in epinephrine provoked long QT syndrome with familial history of sudden cardiac death.
Huang S, Chen J, Song M, Yu Y, Geng J, Lin D, Yang J, Wu J, Li K, Yu Y, Wang J, Hu L, Shan Q, Wang J, Chen P, Chen F.
Huang S, et al.
Leg Med (Tokyo). 2023 May;62:102245. doi: 10.1016/j.legalmed.2023.102245. Epub 2023 Mar 20.
Leg Med (Tokyo). 2023.
PMID: 36965351
Whole-exome sequencing and bioinformatic analysis based on pedigree revealed that a novel missense mutation KCNA10 (c.1397G>A/Arg466Gln) was the potential genetic lesion. Sanger sequencing was performed to confirm the whole-exome sequencing results. This mutation result …
Whole-exome sequencing and bioinformatic analysis based on pedigree revealed that a novel missense mutation KCNA10 (c.1397G>A/Arg4 …