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KCNN2 Mutation in Pediatric Tremor Myoclonus Dystonia Syndrome with Electrophysiological Evaluation Cover

KCNN2 Mutation in Pediatric Tremor Myoclonus Dystonia Syndrome with Electrophysiological Evaluation

Open Access
|Jan 2022

References

  1. 1Szatanik M, Vibert N, Vassias I, Guénet J-L, Eugène D, de Waele C, Jaubert J. Behavioral effects of a deletion in Kcnn2, the gene encoding the SK2 subunit of small-conductance Ca 2+-activated K+ channels. Neurogenetics. 2008; 9(4): 237248. DOI: 10.1007/s10048-008-0136-2
  2. 2Bond CT, Maylie J, Adelman JP. SK channels in excitability, pacemaking and synaptic integration. Current opinion in neurobiology. 2005; 15(3): 305311. DOI: 10.1016/j.conb.2005.05.001
  3. 3Faber ESL. Functions and modulation of neuronal SK channels. Cell biochemistry and biophysics. 2009; 55(3): 127. DOI: 10.1007/s12013-009-9062-7
  4. 4Balint B, Guerreiro R, Carmona S, Dehghani N, Latorre A, Cordivari C, Bhatia KP, Bras J. KCNN2 mutation in autosomal dominant tremulous myoclonusdystonia. European journal of neurology. 2020; 27(8): 14711477. DOI: 10.1111/ene.14228
  5. 5Mochel F, Rastetter A, Ceulemans B, Platzer K, Yang S, Shinde DN, Helbig KL, et al. Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. Brain. 2020; 143(12): 35643573. DOI: 10.1093/brain/awaa346
  6. 6Callizot N, Guénet J-L, Baillet C, Warter J-M, Poindron P. The frissonnant mutant mouse, a model of dopamino-sensitive, inherited motor syndrome. Neurobiology of disease. 2001; 8(3): 447458. DOI: 10.1006/nbdi.2001.0393
DOI: https://doi.org/10.5334/tohm.668 | Journal eISSN: 2160-8288
Language: English
Submitted on: Oct 4, 2021
Accepted on: Jan 13, 2022
Published on: Jan 24, 2022
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2022 Bennett Lavenstein, Patrick McGurrin, Sanaz Attaripour, Felipe Vial, Mark Hallett, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.