Whole-Genome Study of a Multigenerational Family with Essential Tremor.

Ming ZhangMohammad RohaniMahdi Montazer HaghighiChristine SatoEkaterina RogaevaAlfonso Fasano

Published in: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques (2021)

Whole-genome data of the family with ET resulted in a single candidate gene mapped to 21q22.11 locus (TCP10L) with the highest brain expression in cerebellum. Our study encourages future replication studies to validate the genetic link between TCP10L and ET, and suggests the p. Arg90Gln variant for functional investigation.

Keyphrases

genome wide
copy number
gene expression
machine learning
white matter
parkinson disease
resting state
transcription factor
blood brain barrier
functional connectivity
data analysis