| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | 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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