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).
Preview |
Text
Both Heterozygous and Homozygous Loss of Function JPH3 Variants Are Associated.pdf - Published Version Download (287kB) | Preview |
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 |




Archive Staff Only
![]() |
View Item |