References
- 1ErroR, SheerinUM, BhatiaKP Paroxysmal dyskinesias revisited: 500 genetically proven cases and a new classification. Mov Disord 2014;29(9):1108–1116. doi: 10.1002/mds.2593324963779
- 2ErroR, BhatiaKP, EspayAJ, StrianoP The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: channelopathies, synaptopathies and transportopathies. Mov Disord 2017;32(3):310–318. doi: 10.1002/mds.2690128090678
- 3ErroR, BhatiaKP Unravelling of the paroxysmal dyskinesias. J Neurol Neurosurg Psychiatry 2019;90(2):227–234. doi: 10.1136/jnnp-2018-31893230242089
- 4HullyM, RoparsJ, HubertL, BoddaertN, RioM, BernardelliM, et al. Mosaicismin ATP1A3-related disorders: not just a theoretical risk. Neurogenetics 2017;18(1):23–28. doi: 10.1007/s10048-016-0498-927726050
- 5YanoST, SilverK, YoungR, DeBrosseSD, EbelRS, SwobodaKJ, et al. Fever-induced paroxysmal weakness and encephalopathy, a new phenotype of ATP1A3 mutation. Pediatr Neurol 2017;73:101–105. doi: 10.1016/j.pediatrneurol.2017.04.02228647130
- 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):422–430. doi: 10.1111/epi.1291425656163
- 7DardR, MignotC, DurrA, LescaG, SanlavilleD, RozeE, et al. Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation Dev Med Child Neurol 2015;57:1183–1186. doi: 10.1111/dmcn.1292726400718
- 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):49–53. doi: 10.24875/BMHIME.M1900005330657467
- 9CarecchioM, ZorziG, RagonaF, ZibordiF, NardocciN ATP1A3-related disorders: an update. Eur J Paediatr Neurol 2018;22(2):257–263. doi: 10.1016/j.ejpn.2017.12.00929291920
- 10MéneretA, RozeE Paroxysmal movement disorders: an update. Rev Neurol (Paris) 2016;172(8–9):433–445. doi: 10.1016/j.neurol.2016.07.00527567459
- 11PittockSJ, JoyceC, O’KeaneV, HugleB, HardimanO, BrettF, et al. Rapid-onset dystonia-parkinsonism. A clinical and genetic analysis of a new kindred. Neurology 2000;55:991–995. doi: 10.1212/WNL.55.7.99111061257
- 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;11:764–773. doi: 10.1016/S1474-4422(12)70182-522850527
- 13RoubergueA, RozeE, Vuillaumier-BarrotS, FontenilleMJ, MéneretA, VidailhetM, et al. The multiple faces of the ATP1A3-related dystonic movement disorder. Mov Disord 2013;28(10):1457–1459. doi: 10.1002/mds.2539623483595
- 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;52:56–64. doi: 10.1016/j.pediatrneurol.2014.09.01525447930
- 15AlbaneseA, Di GiovanniM, AmamiP, LalliS Failure of pallidal deep brain stimulation in DYT12-ATP1A3 dystonia. Parkinsonism Relat Disord 2017;45:99–100. doi: 10.1016/j.parkreldis.2017.09.00828941827
- 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):76–78. doi: 10.1002/mdc3.12124
- 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;92:388–392. doi: 10.1159/000365226
- 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
- 19LucianoMS, OzeliusL, SimsK, RaymondD, LiuL, Saunders-PullmanR Responsiveness to levodopa in epsilon-sarcoglycan deletions. Mov Disord 2009;24(3):425–428. doi: 10.1002/mds.2237519133653
- 20RandbyH, SalvadorCL, OppebøenM, SkogseidIM, KohtJ Dopa-responsive dystonia. Tidsskr Nor Laegeforen 2018;138(19). doi: 10.4045/tidsskr.17.0595
- 21Ruiz-LopezM, FasanoA Rethinking status dystonicus. Mov Disord 2017;32:1667–1676. doi: 10.1002/mds.2720729144565
