Have a personal or library account? Click to login
Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant Cover

References

  1. 1ErroR, SheerinUM, BhatiaKP Paroxysmal dyskinesias revisited: 500 genetically proven cases and a new classification. Mov Disord 2014;29(9):11081116. doi: 10.1002/mds.2593324963779
  2. 2ErroR, BhatiaKP, EspayAJ, StrianoP The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: channelopathies, synaptopathies and transportopathies. Mov Disord 2017;32(3):310318. doi: 10.1002/mds.2690128090678
  3. 3ErroR, BhatiaKP Unravelling of the paroxysmal dyskinesias. J Neurol Neurosurg Psychiatry 2019;90(2):227234. doi: 10.1136/jnnp-2018-31893230242089
  4. 4HullyM, RoparsJ, HubertL, BoddaertN, RioM, BernardelliM, et al. Mosaicismin ATP1A3-related disorders: not just a theoretical risk. Neurogenetics 2017;18(1):2328. doi: 10.1007/s10048-016-0498-927726050
  5. 5YanoST, SilverK, YoungR, DeBrosseSD, EbelRS, SwobodaKJ, et al. Fever-induced paroxysmal weakness and encephalopathy, a new phenotype of ATP1A3 mutation. Pediatr Neurol 2017;73:101105. doi: 10.1016/j.pediatrneurol.2017.04.02228647130
  6. 6PaciorkowskiAR, McDanielSS, JansenLA, TullyH, TuttleE, GhoneimDH, et al. Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. Epilepsia 2015;56(3):422430. doi: 10.1111/epi.1291425656163
  7. 7DardR, MignotC, DurrA, LescaG, SanlavilleD, RozeE, et al. Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation Dev Med Child Neurol 2015;57:11831186. doi: 10.1111/dmcn.1292726400718
  8. 8Galaz-MontoyaCI, Alcaraz-EstradaS, García-MontañoLA, ZentenoJC, Piña-AguilarRE A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing. Bol Med Hosp Infant Mex 2019;76(1):4953. doi: 10.24875/BMHIME.M1900005330657467
  9. 9CarecchioM, ZorziG, RagonaF, ZibordiF, NardocciN ATP1A3-related disorders: an update. Eur J Paediatr Neurol 2018;22(2):257263. doi: 10.1016/j.ejpn.2017.12.00929291920
  10. 10MéneretA, RozeE Paroxysmal movement disorders: an update. Rev Neurol (Paris) 2016;172(8–9):433445. doi: 10.1016/j.neurol.2016.07.00527567459
  11. 11PittockSJ, JoyceC, O’KeaneV, HugleB, HardimanO, BrettF, et al. Rapid-onset dystonia-parkinsonism. A clinical and genetic analysis of a new kindred. Neurology 2000;55:991995. doi: 10.1212/WNL.55.7.99111061257
  12. 12RosewichH, ThieleH, OlhenbuschA, MaschkeU, AltmüllerJ, FrommoltP, et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol 2012;11:764773. doi: 10.1016/S1474-4422(12)70182-522850527
  13. 13RoubergueA, RozeE, Vuillaumier-BarrotS, FontenilleMJ, MéneretA, VidailhetM, et al. The multiple faces of the ATP1A3-related dystonic movement disorder. Mov Disord 2013;28(10):14571459. doi: 10.1002/mds.2539623483595
  14. 14SweeneyMT, NewcombTM, SwobodaKJ The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, CAPOS and beyond. Pediatr Neurol 2015;52:5664. doi: 10.1016/j.pediatrneurol.2014.09.01525447930
  15. 15AlbaneseA, Di GiovanniM, AmamiP, LalliS Failure of pallidal deep brain stimulation in DYT12-ATP1A3 dystonia. Parkinsonism Relat Disord 2017;45:99100. doi: 10.1016/j.parkreldis.2017.09.00828941827
  16. 16BrückeC, HornA, HuppkeP, KupschA, SchneiderGH, KühnAA Failure of pallidal deep brain stimulation in a case of rapid-onset dystonia parkinsonism (DYT12). Move Disord Clin Pract 2015;2(1):7678. doi: 10.1002/mdc3.12124
  17. 17Van CollerR, SlabbertP, VaidyanathanJ, SchutteC Successful treatment of disabling paroxysmal nonkinesigenic dyskinesia with deep brain stimulation of the globus pallidus internus. Sterotact Funct Neurosurg 2014;92:388392. doi: 10.1159/000365226
  18. 18ShettyAS, BhatiaKP, LangAE Dystonia and Parkinson’s disease: what is the relationship? Neurobiol Dis 2019;132:104462. doi: 10.1016/j.nbd.2019.05.00131078682
  19. 19LucianoMS, OzeliusL, SimsK, RaymondD, LiuL, Saunders-PullmanR Responsiveness to levodopa in epsilon-sarcoglycan deletions. Mov Disord 2009;24(3):425428. doi: 10.1002/mds.2237519133653
  20. 20RandbyH, SalvadorCL, OppebøenM, SkogseidIM, KohtJ Dopa-responsive dystonia. Tidsskr Nor Laegeforen 2018;138(19). doi: 10.4045/tidsskr.17.0595
  21. 21Ruiz-LopezM, FasanoA Rethinking status dystonicus. Mov Disord 2017;32:16671676. doi: 10.1002/mds.2720729144565
DOI: https://doi.org/10.5334/tohm.490 | Journal eISSN: 2160-8288
Language: English
Submitted on: Aug 26, 2019
Accepted on: Nov 19, 2019
Published on: Dec 13, 2019
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2019 Carlos Zúñiga-Ramírez, Mirelle Kramis-Hollands, Rodrigo Mercado-Pimentel, Héctor Alberto González-Usigli, Michel Sáenz-Farret, Alberto Soto-Escageda, Alfonso Fasano, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons License.