Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review.

Caihong JiJiajia ZhaoJianfang ZhangKang Wang

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

Our case provides further evidence of the role of NUS1 variants in PME. These findings expand the clinical phenotypes of NUS1 variants, which should be included in the PME genetic screening panel.

Keyphrases

copy number
systematic review
meta analyses
multiple sclerosis
genome wide
case report
randomized controlled trial