Gorman, KM;
Meyer, E;
Kurian, MA;
(2018)
Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B.
[Review].
European Journal of Paediatric Neurology
, 22
(2)
pp. 245-256.
10.1016/j.ejpn.2017.11.009.
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Abstract
In 2016, two research groups independently identified microdeletions and pathogenic variants in the lysine-specific histone methyltransferase 2B gene, KMT2B in patients with early-onset progressive dystonia. KMT2B-dystonia (DYT28) is emerging as an important and frequent cause of childhood-onset progressive generalised dystonia and is estimated to potentially account for up to 10% of early-onset generalised dystonia. Herein, we review variants in KMT2B associated with dystonia, as well as the clinical phenotype, treatment and underlying disease mechanisms. Furthermore, in context of this newly identified condition, we summarise our approach to the genetic investigation of paediatric dystonia.
| Type: | Article |
|---|---|
| Title: | Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.ejpn.2017.11.009 |
| Publisher version: | http://doi.org/10.1016/j.ejpn.2017.11.009 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | KTM2B, Dystonia, Microdeletions, Genetic and inherited disorders |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences 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 > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10067157 |
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