Han family with essential tremor caused by the P421L variant of the TENM4 gene in China.

Wu ChiMin WuHan-Lu WangQiu-Yan WuYan-Ping ZhangYa-Nan HuYao-Bin ZhuXin-Fu LinTing ChenJie-Wei LuoXing-Lin RuanYun-Fei Li

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2023)

This study revealed that the TENM4 (p.P421L) pathogenic missense variation was responsible for ET in the proband.

Keyphrases

deep brain stimulation
copy number
single cell
gene expression