Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation

Journal article

Jones, Hannah F., Morales-Briceño, Hugo, Barwick, Katy, Lewis, Jennifer, Sanchis-Juan, Alba, Raymond, F. Lucy, Stewart, Kirsty, Waugh, Mary-Clare, Mahant, Neil, Kurian, Manju A., Dale, Russell C. and Mohammad, Shekeeb S.. (2019). Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation. Movement Disorders. 34(7), pp. 1079-1080. https://doi.org/10.1002/mds.27708
AuthorsJones, Hannah F., Morales-Briceño, Hugo, Barwick, Katy, Lewis, Jennifer, Sanchis-Juan, Alba, Raymond, F. Lucy, Stewart, Kirsty, Waugh, Mary-Clare, Mahant, Neil, Kurian, Manju A., Dale, Russell C. and Mohammad, Shekeeb S.
Abstract

[Extract] Myoclonus-dystonia is commonly caused by mutations in SGCE, but other genotypes including ADCY5 and KCTD17 mutations have been recently described.1, 2 We report the first patient with myoclonus-dystonia caused by a Guanine nucleotide-binding protein, beta-1 (GNB1) mutation who responded to bilateral globus pallidus interna (GPi) deep brain stimulation (DBS).

Year2019
JournalMovement Disorders
Journal citation34 (7), pp. 1079-1080
PublisherJohn Wiley & Sons Ltd
ISSN0885-3185
Digital Object Identifier (DOI)https://doi.org/10.1002/mds.27708
Scopus EID2-s2.0-85065159373
Research or scholarlyResearch
Page range1079-1080
Publisher's version
License
All rights reserved
File Access Level
Controlled
Output statusPublished
Publication dates
Online29 Apr 2019
Publication process dates
Accepted14 Apr 2019
Deposited18 Nov 2021
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