| 1 | ATP1A3
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| The role of ATP1A3 gene in epilepsy: We need to know more.
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| Zou S, Lan YL, Gong Y, Chen Z, Xu C.
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| Front Cell Neurosci. Feb 13;17:1143956. doi: 10.3389/fncel.2023.1143956. 2023
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| 2 | AHC2, ATP1A3
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| Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
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| Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, Gómez-González C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano ST.
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| Brain. Aug 1;146(8):3162-3171. doi: 10.1093/brain/awad124. 2023
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| 3 | ATP1A3, DYT12
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| ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis.
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| Yu L, Peng G, Yuan Y, Tang M, Liu P, Liu X, Ni J, Li Y, Ji C, Fan Z, Zhu W, Luo B, Ke Q.
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| Front Aging Neurosci. Aug 1;14:933893. doi: 10.3389/fnagi.2022.933893. 2022
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| 4 | ATP1A2, ATP1A3, DEE98, DEE99
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| ATP1A2/A3-collaborators. ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
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| Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R;
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| Brain. Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052 2021
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| 5 | AHC2, ATP1A3, CAPOS DYT12, DEE98
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| ATP1A3-related disorders in the differential diagnosis of acute brainstem and cerebellar dysfunction.
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| Duat-Rodríguez A, Prochazkova M, Sebastian IP, Extremera VC, Legido MJ, Palero SR, Ortiz Cabrera NV.
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| Eur J Paediatr Neurol. Sep;34:105-109. doi: 10.1016/j.ejpn.2021.08.005. Epub 2021 Aug 26. 2021
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| 6 | ATP1A1, ATP1A2, ATP1A3
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| Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3.
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| Sweadner KJ, Arystarkhova E, Penniston JT, Swoboda KJ, Brashear A, Ozelius LJ.
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| Neurol Genet Feb 4;5(1):e303. doi: 10.1212/NXG.0000000000000303. 2019
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| 7 | AHC2, ATP1A3
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| Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood.
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| Simmons CQ, Thompson CH, Cawthon BE, Westlake G, Swoboda KJ, Kiskinis E, Ess KC, George AL Jr.
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| Neurobiol Dis. Jul;115:29-38. doi: 10.1016/j.nbd.2018.03.009. Epub 2018 Mar 19. 2018
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| 8 | ATP1A1, ATP1A3
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| The Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and Senescence.
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| Kinoshita PF, Leite JA, Orellana AM, Vasconcelos AR, Quintas LE, Kawamoto EM, Scavone C.
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| Front Physiol 7:195. doi: 10.3389/fphys.2016.00195. eCollection 2016. Review.
2016
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| 9 | AHC2, ATP1A3
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| Recognizable facial features in patients with alternating hemiplegia of childhood.
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| Gurrieri F, Tiziano FD, Zampino G, Neri G.
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| Am J Med Genet A 170(10):2698-705. doi: 10.1002/ajmg.a.37808. Epub 2016 Jun 17.
2016
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| 10 | ATP1A1, ATP1A2, ATP1A3, ATP1A4, GPNMB
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| Glycoprotein nonmetastatic melanoma protein B (GPNMB) promotes the progression of brain glioblastoma via Na+/K+-ATPase.
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| Ono Y, Chiba S, Yano H, Nakayama N, Saio M, Tsuruma K, Shimazawa M, Iwama T, Hara H.
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| Biochem Biophys Res Commun 481(1-2):7-12. doi: 10.1016/j.bbrc.2016.11.034. Epub 2016 Nov 9.
2016
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| 11 | ATP1A3, CAPOS
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| The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
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| Sweney MT, Newcomb TM, Swoboda KJ.
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| Pediatr Neurol 52(1):56-64. doi: 10.1016/j.pediatrneurol.2014.09.015. Epub 2014 Oct 13. Review.
2015
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| 12 | ATP1A3, CAPOS
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| CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation.
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| Potic A, Nmezi B, Padiath QS.
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| J Neurol Sci 358(1-2):453-6. doi: 10.1016/j.jns.2015.10.002. Epub 2015 Oct 3.
2015
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| 13 | AHC2, ATP1A3
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| Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
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| Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP, Sisodiya SM.
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| Brain 138(Pt 10):2859-74. doi: 10.1093/brain/awv243. Epub 2015 Aug 21.
2015
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| 14 | ATP1A3
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| Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
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| Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, Dobyns WB, Hahn S.
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| Epilepsia 56(3):422-30. doi: 10.1111/epi.12914. Epub 2015 Feb 5.
2015
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| 15 | AHC2, ATP1A3
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| ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
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| Yang X, Gao H, Zhang J, Xu X, Liu X, Wu X, Wei L, Zhang Y.
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| PLoS One 9(5):e97274. doi: 10.1371/journal.pone.0097274. eCollection 2014.
2014
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| 16 | ATP1A3, CAPOS
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| A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
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| Demos MK, van Karnebeek CD, Ross CJ, Adam S, Shen Y, Zhan SH, Shyr C, Horvath G, Suri M, Fryer A, Jones SJ, Friedman JM; FORGE Canada Consortium.
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| Orphanet J Rare Dis 9:15. doi: 10.1186/1750-1172-9-15.
2014
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| 17 | ATP1A3
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| Heterozygous mice deficient in Atp1a3 exhibit motor deficits by chronic restraint stress.
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| Sugimoto H, Ikeda K, Kawakami K.
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| Behav Brain Res 272:100-10. doi: 10.1016/j.bbr.2014.06.048. Epub 2014 Jun 29.
2014
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| 18 | AHC2, ATP1A3
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| Genotype-phenotype correlations in alternating hemiplegia of childhood.
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| Sasaki M, Ishii A, Saito Y, Morisada N, Iijima K, Takada S, Araki A, Tanabe Y, Arai H, Yamashita S, Ohashi T, Oda Y, Ichiseki H, Hirabayashi S, Yasuhara A, Kawawaki H, Kimura S, Shimono M, Narumiya S, Suzuki M, Yoshida T, Oyazato Y, Tsuneishi S, Ozasa S, Yokochi K, Dejima S, Akiyama T, Kishi N, Kira R, Ikeda T, Oguni H, Zhang B, Tsuji S, Hirose S.
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| Neurology 82(6):482-90. doi: 10.1212/WNL.0000000000000102. Epub 2014 Jan 15.
2014
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| 19 | AHC2, ATP1A3
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| Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.
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| Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H, Yamashita S, Kimura S, Oguni H, Morishita S, Tsuji S, Sasaki M, Hirose S.
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| PLoS One 8(2):e56120. doi: 10.1371/journal.pone.0056120. Epub 2013 Feb 8.
2013
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| 20 | ATP1A3
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| Enhanced inhibitory neurotransmission in the cerebellar cortex of Atp1a3-deficient heterozygous mice.
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| Ikeda K, Satake S, Onaka T, Sugimoto H, Takeda N, Imoto K, Kawakami K.
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| J Physiol 591(13):3433-49. doi: 10.1113/jphysiol.2012.247817. Epub 2013 May 7.
2013
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| 21 | ATP1A3
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| A specific and essential role for Na,K-ATPase α3 in neurons co-expressing α1 and α3.
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| Azarias G, Kruusmägi M, Connor S, Akkuratov EE, Liu XL, Lyons D, Brismar H, Broberger C, Aperia A.
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| J Biol Chem 288(4):2734-43. doi: 10.1074/jbc.M112.425785. Epub 2012 Nov 29.
2013
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| 22 | ATP1A1, ATP1A3
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| Na+/K+ ATPase α1 and α3 isoforms are differentially expressed in α- and γ-motoneurons.
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| Edwards IJ, Bruce G, Lawrenson C, Howe L, Clapcote SJ, Deuchars SA, Deuchars J.
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| J Neurosci 33(24):9913-9. doi: 10.1523/JNEUROSCI.5584-12.2013.
2013
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| 23 | AHC2, ATP1A3
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| De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
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| Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.
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| Nat Genet 44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29.
2012
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| 24 | AHC2, ATP1A3
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| Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
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| Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmüller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nürnberg P, Brockmann K, Gärtner J.
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| Lancet Neurol 11(9):764-73. doi: 10.1016/S1474-4422(12)70182-5. Epub 2012 Jul 30.
2012
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| 25 | ATP1A3, ATP1B2, RS1
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| The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis.
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| Friedrich U, Stöhr H, Hilfinger D, Loenhardt T, Schachner M, Langmann T, Weber BH.
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| Hum Mol Genet 20(6):1132-42. Epub 2010 Dec 31.
2011
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| 26 | ATP1A2, ATP1A3, DYT12, FHM2
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| Neurological disease mutations compromise a C-terminal ion pathway in the Na(+)/K(+)-ATPase.
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| Poulsen H, Khandelia H, Morth JP, Bublitz M, Mouritsen OG, Egebjerg J, Nissen P.
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| Nature 467(7311):99-102. Epub 2010 Aug 15.PMID: 20720542 2010
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| 27 | ATP1A3, DYT12
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| A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.
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| Blanco-Arias P, Einholm AP, Mamsa H, Concheiro C, Gutiérrez-de-Terán H, Romero J, Toustrup-Jensen MS, Carracedo A, Jen JC, Vilsen B, Sobrido MJ.
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| Hum Mol Genet 18(13):2370-7. Epub 2009 Apr 7.
2009
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| 28 | ATP1A2, ATP1A3
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| The structure of the Na+,K+-ATPase and mapping of isoform differences and disease-related mutations.
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| Morth JP, Poulsen H, Toustrup-Jensen MS, Schack VR, Egebjerg J, Andersen JP, Vilsen B, Nissen P.
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| Philos Trans R Soc Lond B Biol Sci 364(1514):217-27. 2009
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| 29 | ATP1A2, ATP1A3, DYT12, MHP2
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| Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity.
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| Ashmore LJ, Hrizo SL, Paul SM, Van Voorhies WA, Beitel GJ, Palladino MJ.
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| Hum Genet 126(3):431-47. Epub 2009 May 12.PMID: 19455355 2009
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| 30 | ATP1A1, ATP1A2, ATP1A3
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| Association between sodium- and potassium-activated adenosine triphosphatase alpha isoforms and bipolar disorders.
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| Goldstein I, Lerer E, Laiba E, Mallet J, Mujaheed M, Laurent C, Rosen H, Ebstein RP, Lichtstein D.
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| Biol Psychiatry 65(11):985-91. Epub 2008 Dec 5.
2009
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| 31 | ATP1A3, DYT12
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| The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
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| Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ.
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| Brain 130(Pt 3):828-35. Epub 2007 Feb 4.
2007
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| 32 | ATP1A3, DYT12
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| ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.
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| Lee JY, Gollamudi S, Ozelius LJ, Kim JY, Jeon BS.
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| Mov Disord 22(12):1808-9.PMID: 17595045 2007
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| 33 | AGRN, ATP1A3
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| Alpha3Na+/K+-ATPase is a neuronal receptor for agrin.
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| Hilgenberg LG, Su H, Gu H, O'Dowd DK, Smith MA.
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| Cell 125(2):359-69. 2006
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| 34 | ATP1A3, DYT12, DYT8, DYT9, EKD1, EKD2
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| What happens when the pumps fail? Mutations in ATP1A3 are linked to dystonia.
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| Warby S.
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| Clin Genet 66(5):393-5. No abstract available. 2004
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| 35 | ATP1A3, DYT12
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| Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
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| de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ.
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| Neuron 43(2):169-75.
2004
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| 36 | ATP1A3
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| A dinucleotide repeat polymorphism in the human Na+, K+ ATPase, alpha subunit (ATP1A3) gene.
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| Kazantsev A, et al.
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| Nucleic Acids Res 20 : 1164. 1992
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| 37 | ATP1A1, ATP1A2, ATP1A3
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| Population genetic analysis of Na, K-ATPase alpha-genes RFLP's among Russians in Moscow region.
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| Petronis A, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2024-2025. 1991
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| 38 | ATP1A3
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| Localisation of a human Na+, K+ATPase alpha subunit gene to chromosome 19q12-q13.2 and linkage to the myotonic dystrophy locus.
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| Harley HG, et al.
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| Genomics 3 : 380-384. 1988
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| 39 | ATP1A3
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| Linkage studies in myotonic dystrophy and chromosome 19 markers.
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| Pericak-Vance MA, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 675. 1987
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| 40 | ATP1A1, ATP1A2, ATP1A3, ATP1A4
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| Multiple genes encode the human Na+,K+-ATPase catalytic subunit.
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| Shull MM, et al.
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| Proc Natl Acad Sci U S A 84 : 4039-4043. 1987
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| 41 | ATP1A1, ATP1A3, ATP1B1
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| Family of Na+, K+ -ATPase genes. Intra-individual tissue-specific restriction fragment length polymorphism.
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| Sverdlov ED, et al.
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| FEBS Lett 221 : 129-133. 1987
|