CACNA1B gene variants in adult-onset isolated focal dystonia.
Relu CocoșFlorina RaicuOvidiu Lucian BăjenaruIulia OlaruLaura DumitrescuBogdan Ovidiu PopescuPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2020)
Our findings suggest that disease-causing mutations in CACNA1B gene may be involved in the development of some adult-onset IFD. To our knowledge, this is the first study that identified a disease-causing CACNA1B gene mutation in association with adult-onset IFD.