Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism.

Chizuru IkedaToshitaka KawaraiChisa SetoyamaAntonio OrlacchioHoseki Imamura

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2020)

Keyphrases

deep brain stimulation
parkinson disease
early onset
intellectual disability
drug induced