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Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder

Steel, Dora; Vezyroglou, Aikaterini; Barwick, Katy; Smith, Martin; Vogt, Julie; Gibbon, Frances M; Cross, J Helen; (2022) Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder. Movement Disorders 10.1002/mds.29250. (In press). Green open access

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Type: Article
Title: Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/mds.29250
Publisher version: https://doi.org/10.1002/mds.29250
Language: English
Additional information: This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third-party material in this article are included in the Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
Keywords: JPH3, alternating hemiplegia of childhood, dyskinesia, dystonia, paroxysmal movement disorder
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
URI: https://discovery.ucl.ac.uk/id/eprint/10158173
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