- •Missense variants of uncertain significance in KMT2B may be related to a later dystonia onset in adulthood.
- •KMT2B related dystonia has a favourable response to GPi-DBS.
- •KMT2B related dystonia may present with cervical and axial predominant phenotype.
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
- Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2b, results in early-onset generalized dystonia.Am. J. Hum. Genet. 2016; 99: 1377-1387https://doi.org/10.1016/j.ajhg.2016.10.010
- Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.Nat. Genet. 2017; 49: 223-237https://doi.org/10.1038/ng.3740
- Update on KMT2B-related dystonia.Curr. Neurol. Neurosci. Rep. 2019; 19https://doi.org/10.1007/s11910-019-1007-y
- KMT2B rare missense variants in generalized dystonia.Mov. Disord. 2017; 32: 1087-1091https://doi.org/10.1002/mds.27026
- Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.BMC Neurol. 2020; 20: 4-9https://doi.org/10.1186/s12883-020-01798-x
- Adult-onset KMT2B- related dystonia responsive to deep brain stimulation.Mov. Disord. Clin. Pract. 2020 Oct 17; 7: 992-993https://doi.org/10.1002/mdc3.13093
- Identification of novel KMT2B variants in Chinese dystonia patients via whole-exome sequencing.Front. Neurol. 2019; 10: 1-6https://doi.org/10.3389/fneur.2019.00729
- KMT2B -related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.Brain. 2020 Nov 1; 143: 3242-3261https://doi.org/10.1093/brain/awaa304
- Frequency and phenotypic spectrum of KMT2B dystonia in childhood: a single-center cohort study.Mov. Disord. 2019; 34: 1516-1527https://doi.org/10.1002/mds.27771
- GPi-DBS for KMT2B-associated dystonia: systematic review and meta-analysis.Mov. Disord. Clin. Pract. 2022 Jan 4; 9: 31-37https://doi.org/10.1002/mdc3.13374