{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T11:16:02Z","timestamp":1778757362380,"version":"3.51.4"},"reference-count":49,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T00:00:00Z","timestamp":1778457600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T00:00:00Z","timestamp":1778716800000},"content-version":"vor","delay-in-days":3,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Transl Med"],"DOI":"10.1186\/s12967-026-08203-0","type":"journal-article","created":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T04:23:34Z","timestamp":1778473414000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism"],"prefix":"10.1186","volume":"24","author":[{"given":"Su Min","family":"Lim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suhyun","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinseok","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Young-Eun","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ok Cho","family":"Na","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minyeop","family":"Nahm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min-Young","family":"Noh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ki-Wook","family":"Oh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang-Seok","family":"Ki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Woong-Hee","family":"Shin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hae-Chul","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9644-9598","authenticated-orcid":false,"given":"Seung Hyun","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,5,11]]},"reference":[{"issue":"9","key":"8203_CR1","doi-asserted-by":"publisher","first-page":"764","DOI":"10.1016\/S1474-4422(12)70182-5","volume":"11","author":"H Rosewich","year":"2012","unstructured":"Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmuller J, Frommolt P, et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. The Lancet Neurol. 2012;11(9):764\u201373. https:\/\/doi.org\/10.1016\/S1474-4422(12)70182-5.","journal-title":"The Lancet Neurol"},{"key":"8203_CR2","doi-asserted-by":"publisher","first-page":"637890","DOI":"10.3389\/fneur.2021.637890","volume":"12","author":"PA Salles","year":"2021","unstructured":"Salles PA, Mata IF, Brunger T, Lal D, Fernandez HH. ATP1A3-related disorders: an ever-expanding clinical spectrum. Front Neurol. 2021;12:637890. https:\/\/doi.org\/10.3389\/fneur.2021.637890.","journal-title":"Front Neurol"},{"issue":"2","key":"8203_CR3","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1002\/mds.870110206","volume":"11","author":"A Brashear","year":"1996","unstructured":"Brashear A, Farlow MR, Butler IJ, Kasarskis EJ, Dobyns WB. Variable phenotype of rapid-onset dystonia-parkinsonism. Mov Disord. 1996;11(2):151\u201356. https:\/\/doi.org\/10.1002\/mds.870110206.","journal-title":"Mov Disord"},{"issue":"5","key":"8203_CR4","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1016\/S1474-4422(14)70011-0","volume":"13","author":"EL Heinzen","year":"2014","unstructured":"Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, et al. Distinct neurological disorders with ATP1A3 mutations. The Lancet Neurol. 2014;13(5):503\u201314. https:\/\/doi.org\/10.1016\/S1474-4422(14)70011-0.","journal-title":"The Lancet Neurol"},{"key":"8203_CR5","doi-asserted-by":"publisher","unstructured":"Biondo ED, Spontarelli K, Ababioh G, Mendez L, Artigas P. Diseases caused by mutations in the Na + \/K + pump \u03b11 gene ATP1A1. Am J Physiol-Cell Physiol. 2021;321(2):C394\u2013408. https:\/\/doi.org\/10.1152\/ajpcell.00059.2021.","DOI":"10.1152\/ajpcell.00059.2021"},{"key":"8203_CR6","doi-asserted-by":"publisher","unstructured":"Henriksen C, Kjaer-Sorensen K, Einholm AP, Madsen LB, Momeni J, Bendixen C, et al. Molecular cloning and characterization of porcine Na+\/K+-ATPase isoforms alpha1, alpha2, alpha3 and the ATP1A3 promoter. PLoS ONE. 2013;8(11):e79127. https:\/\/doi.org\/10.1371\/journal.pone.0079127.","DOI":"10.1371\/journal.pone.0079127"},{"issue":"1\u20133","key":"8203_CR7","doi-asserted-by":"publisher","first-page":"2373","DOI":"10.2741\/1704","volume":"10","author":"M Dobretsov","year":"2005","unstructured":"Dobretsov M. Neuronal function and alpha3 isoform of the Na\/K-ATPase. Front Biosci. 2005;10(1\u20133):2373\u201396. https:\/\/doi.org\/10.2741\/1704.","journal-title":"Front Biosci"},{"key":"8203_CR8","doi-asserted-by":"publisher","unstructured":"Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, et al. The phenotypic continuum of ATP1A3-related disorders. Neurology. 2022;99(14):e1511\u201326. https:\/\/doi.org\/10.1212\/WNL.0000000000200927.","DOI":"10.1212\/WNL.0000000000200927"},{"key":"8203_CR9","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1016\/j.nbd.2015.02.002","volume":"77","author":"M Li","year":"2015","unstructured":"Li M, Jazayeri D, Corry B, McSweeney KM, Heinzen EL, Goldstein DB, et al. A functional correlate of severity in alternating hemiplegia of childhood. Neurobiol Disease. 2015;77:88\u201393. https:\/\/doi.org\/10.1016\/j.nbd.2015.02.002.","journal-title":"Neurobiol Disease"},{"key":"8203_CR10","doi-asserted-by":"publisher","first-page":"1143956","DOI":"10.3389\/fncel.2023.1143956","volume":"17","author":"S Zou","year":"2023","unstructured":"Zou S, Lan YL, Gong Y, Chen Z, Xu C. The role of ATP1A3 gene in epilepsy: we need to know more. Front Cell Neurosci. 2023;17:1143956. https:\/\/doi.org\/10.3389\/fncel.2023.1143956.","journal-title":"Front Cell Neurosci"},{"key":"8203_CR11","doi-asserted-by":"publisher","unstructured":"Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, et al. Alternating hemiplegia of childhood: retrospective genetic study and genotype-phenotype correlations in 187 subjects from the US AHCF registry. PLoS ONE. 2015;10(5):e0127045. https:\/\/doi.org\/10.1371\/journal.pone.0127045.","DOI":"10.1371\/journal.pone.0127045"},{"issue":"10","key":"8203_CR12","doi-asserted-by":"publisher","first-page":"1528","DOI":"10.1002\/mds.27801","volume":"34","author":"IU Haq","year":"2019","unstructured":"Haq IU, Snively BM, Sweadner KJ, Suerken CK, Cook JF, Ozelius LJ, et al. Revising rapid-onset dystonia\u2013parkinsonism: broadening indications for ATP1A3 testing. Mov Disord. 2019;34(10):1528\u201336. https:\/\/doi.org\/10.1002\/mds.27801.","journal-title":"Mov Disord"},{"issue":"1","key":"8203_CR13","doi-asserted-by":"publisher","first-page":"5293","DOI":"10.1038\/s41467-022-32990-x","volume":"13","author":"PT Nguyen","year":"2022","unstructured":"Nguyen PT, Deisl C, Fine M, Tippetts TS, Uchikawa E, Bai XC, et al. Structural basis for gating mechanism of the human sodium-potassium pump. Nat Commun. 2022;13(1):5293. https:\/\/doi.org\/10.1038\/s41467-022-32990-x.","journal-title":"Nat Commun"},{"issue":"7245","key":"8203_CR14","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1038\/nature07939","volume":"459","author":"T Shinoda","year":"2009","unstructured":"Shinoda T, Ogawa H, Cornelius F, Toyoshima C. Crystal structure of the sodium\u2013potassium pump at 2.4 \u00c5 resolution. Nature. 2009;459(7245):446\u201350. https:\/\/doi.org\/10.1038\/nature07939.","journal-title":"Nature"},{"issue":"13","key":"8203_CR15","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1002\/jcc.20084","volume":"25","author":"EF Pettersen","year":"2004","unstructured":"Pettersen EF, Goddard TD, Huang CC, Couch GS, Greenblatt DM, Meng EC, et al. UCSF Chimera\u2014a visualization system for exploratory research and analysis. J Comput Chem. 2004;25(13):1605\u201312. https:\/\/doi.org\/10.1002\/jcc.20084.","journal-title":"J Comput Chem"},{"issue":"6","key":"8203_CR16","doi-asserted-by":"publisher","first-page":"844","DOI":"10.1016\/j.str.2011.03.019","volume":"19","author":"MV Shapovalov","year":"2011","unstructured":"Shapovalov MV, Dunbrack RL Jr. A smoothed backbone-dependent rotamer library for proteins derived from adaptive kernel density estimates and regressions. Structure. 2011;19(6):844\u201358. https:\/\/doi.org\/10.1016\/j.str.2011.03.019.","journal-title":"Structure"},{"issue":"27","key":"8203_CR17","doi-asserted-by":"publisher","first-page":"1997","DOI":"10.1002\/jcc.23702","volume":"35","author":"EL Wu","year":"2014","unstructured":"Wu EL, Cheng X, Jo S, Rui H, Song KC, Davila-Contreras EM, et al. CHARMM-GUI Membrane Builder toward realistic biological membrane simulations. J Comput Chem. 2014;35(27):1997\u20132004. https:\/\/doi.org\/10.1002\/jcc.23702.","journal-title":"J Comput Chem"},{"issue":"11","key":"8203_CR18","doi-asserted-by":"publisher","first-page":"1859","DOI":"10.1002\/jcc.20945","volume":"29","author":"S Jo","year":"2008","unstructured":"Jo S, Kim T, Iyer VG, Im W. CHARMM-GUI: a web-based graphical user interface for CHARMM. J Comput Chem. 2008;29(11):1859\u201365. https:\/\/doi.org\/10.1002\/jcc.20945.","journal-title":"J Comput Chem"},{"issue":"2","key":"8203_CR19","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1007\/s00439-017-1862-z","volume":"137","author":"L Tranebjaerg","year":"2018","unstructured":"Tranebjaerg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, et al. The CAPOS mutation in ATP1A3 alters Na\/K-ATPase function and results in auditory neuropathy which has implications for management. Hum Genet. 2018;137(2):111\u201327. https:\/\/doi.org\/10.1007\/s00439-017-1862-z.","journal-title":"Hum Genet"},{"issue":"1","key":"8203_CR20","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1038\/nmeth.4067","volume":"14","author":"J Huang","year":"2017","unstructured":"Huang J, Rauscher S, Nawrocki G, Ran T, Feig M, de Groot BL, et al. CHARMM36m: an improved force field for folded and intrinsically disordered proteins. Nat Methods. 2017;14(1):71\u201373. https:\/\/doi.org\/10.1038\/nmeth.4067.","journal-title":"Nat Methods"},{"issue":"7","key":"8203_CR21","doi-asserted-by":"publisher","first-page":"3084","DOI":"10.1021\/ct400341p","volume":"9","author":"DR Roe","year":"2013","unstructured":"Roe DR, Cheatham TE 3rd. PTRAJ and CPPTRAJ: software for processing and analysis of molecular dynamics trajectory data. J Chem Theory Comput. 2013;9(7):3084\u201395. https:\/\/doi.org\/10.1021\/ct400341p.","journal-title":"J Chem Theory Comput"},{"issue":"1","key":"8203_CR22","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1186\/s13024-016-0075-6","volume":"11","author":"SM Lim","year":"2016","unstructured":"Lim SM, Choi WJ, Oh KW, Xue Y, Choi JY, Kim SH, et al. Directly converted patient-specific induced neurons mirror the neuropathology of FUS with disrupted nuclear localization in amyotrophic lateral sclerosis. Mol Neurodegener. 2016;11(1):8. https:\/\/doi.org\/10.1186\/s13024-016-0075-6.","journal-title":"Mol Neurodegener"},{"issue":"4","key":"8203_CR23","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1007\/s41048-018-0066-y","volume":"4","author":"J Hu","year":"2018","unstructured":"Hu J, Qian H, Xue Y, Fu XD. PTB\/nPTB: master regulators of neuronal fate in mammals. Biophys Rep. 2018;4(4):204\u201314. https:\/\/doi.org\/10.1007\/s41048-018-0066-y.","journal-title":"Biophys Rep"},{"issue":"46","key":"8203_CR24","doi-asserted-by":"publisher","first-page":"74496","DOI":"10.18632\/oncotarget.12812","volume":"7","author":"SM Lim","year":"2016","unstructured":"Lim SM, Choi BO, Oh SI, Choi WJ, Oh KW, Nahm M, et al. Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease. Oncotarget. 2016;7(46):74496\u2013509. https:\/\/doi.org\/10.18632\/oncotarget.12812.","journal-title":"Oncotarget"},{"issue":"2","key":"8203_CR25","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1038\/nn2025","volume":"11","author":"S Kucenas","year":"2008","unstructured":"Kucenas S, Takada N, Park HC, Woodruff E, Broadie K, Appel B. CNS-derived glia ensheath peripheral nerves and mediate motor root development. Nat Neurosci. 2008;11(2):143\u201351. https:\/\/doi.org\/10.1038\/nn2025.","journal-title":"Nat. Neurosci"},{"issue":"7","key":"8203_CR26","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/hmg\/ddt567","volume":"23","author":"K See","year":"2014","unstructured":"See K, Yadav P, Giegerich M, Cheong PS, Graf M, Vyas H, et al. SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy. Hum Mol Genet. 2014;23(7):1754\u201370. https:\/\/doi.org\/10.1093\/hmg\/ddt567.","journal-title":"Hum Mol Genet"},{"issue":"18","key":"8203_CR27","doi-asserted-by":"publisher","first-page":"3001","DOI":"10.1242\/dev.024802","volume":"135","author":"Y Kimura","year":"2008","unstructured":"Kimura Y, Satou C, Higashijima S. V2a and V2b neurons are generated by the final divisions of pair-producing progenitors in the zebrafish spinal cord. Development. 2008;135(18):3001\u201305. https:\/\/doi.org\/10.1242\/dev.024802.","journal-title":"Development"},{"issue":"4","key":"8203_CR28","doi-asserted-by":"publisher","first-page":"1255","DOI":"10.1073\/pnas.0704963105","volume":"105","author":"K Asakawa","year":"2008","unstructured":"Asakawa K, Suster ML, Mizusawa K, Nagayoshi S, Kotani T, Urasaki A, et al. Genetic dissection of neural circuits by Tol2 transposon-mediated Gal4 gene and enhancer trapping in zebrafish. Proc Natl Acad Sci USA. 2008;105(4):1255\u201360. https:\/\/doi.org\/10.1073\/pnas.0704963105.","journal-title":"Proc Natl Acad Sci USA"},{"issue":"17","key":"8203_CR29","doi-asserted-by":"publisher","first-page":"3757","DOI":"10.1242\/dev.126.17.3757","volume":"126","author":"JA Lister","year":"1999","unstructured":"Lister JA, Robertson CP, Lepage T, Johnson SL, Raible DW. Raible DW: nacre encodes a zebrafish microphthalmia-related protein that regulates neural-crest-derived pigment cell fate. Development. 1999;126(17):3757\u201367. https:\/\/doi.org\/10.1242\/dev.126.17.3757.","journal-title":"Development"},{"issue":"1","key":"8203_CR30","doi-asserted-by":"publisher","first-page":"15029","DOI":"10.1038\/ncomms15029","volume":"8","author":"A Muto","year":"2017","unstructured":"Muto A, Lal P, Ailani D, Abe G, Itoh M, Kawakami K. Activation of the hypothalamic feeding centre upon visual prey detection. Nat Commun. 2017;8(1):15029. https:\/\/doi.org\/10.1038\/ncomms15029.","journal-title":"Nat Commun"},{"issue":"34","key":"8203_CR31","doi-asserted-by":"publisher","first-page":"13904","DOI":"10.1073\/pnas.1308335110","volume":"110","author":"LE Jao","year":"2013","unstructured":"Jao LE, Wente SR, Chen W. Efficient multiplex biallelic zebrafish genome editing using a CRISPR nuclease system. Proc Natl Acad Sci USA. 2013;110(34):13904\u201309. https:\/\/doi.org\/10.1073\/pnas.1308335110.","journal-title":"Proc Natl Acad Sci USA"},{"issue":"1","key":"8203_CR32","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1038\/nprot.2007.514","volume":"3","author":"C Thisse","year":"2008","unstructured":"Thisse C, Thisse B. High-resolution in situ hybridization to whole-mount zebrafish embryos. Nat Protoc. 2008;3(1):59\u201369. https:\/\/doi.org\/10.1038\/nprot.2007.514.","journal-title":"Nat Protoc"},{"key":"8203_CR33","doi-asserted-by":"publisher","first-page":"933893","DOI":"10.3389\/fnagi.2022.933893","volume":"14","author":"L Yu","year":"2022","unstructured":"Yu L, Peng G, Yuan Y, Tang M, Liu P, Liu X, et al. ATP1A3 mutation in rapid-onset dystonia parkinsonism: new data and genotype-phenotype correlation analysis. Front Aging Neurosci. 2022;14:933893. https:\/\/doi.org\/10.3389\/fnagi.2022.933893.","journal-title":"Front Aging Neurosci"},{"issue":"5","key":"8203_CR34","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for molecular Pathology. Genet Med. 2015;17(5):405\u201324. https:\/\/doi.org\/10.1038\/gim.2015.30.","journal-title":"Genet Med"},{"issue":"11","key":"8203_CR35","doi-asserted-by":"publisher","first-page":"2529","DOI":"10.1016\/j.bbamem.2012.06.003","volume":"1818","author":"H Qiu","year":"2012","unstructured":"Qiu H, Shen R, Guo W. Ion solvation and structural stability in a sodium channel investigated by molecular dynamics calculations. Biochim Et Biophys Acta (BBA) - Biomembr. 2012;1818(11):2529\u201335. https:\/\/doi.org\/10.1016\/j.bbamem.2012.06.003.","journal-title":"Biochim Et Biophys Acta (BBA) - Biomembr"},{"issue":"12","key":"8203_CR36","doi-asserted-by":"publisher","first-page":"2434","DOI":"10.1021\/acs.jcim.6b00353","volume":"56","author":"P Cechova","year":"2016","unstructured":"Cechova P, Berka K, Kubala M. Ion pathways in the Na + \/K + -ATPase. J Chem Inf Model. 2016;56(12):2434\u201344. https:\/\/doi.org\/10.1021\/acs.jcim.6b00353.","journal-title":"J Chem Inf Model"},{"issue":"19","key":"8203_CR37","doi-asserted-by":"publisher","first-page":"18736","DOI":"10.1074\/jbc.M500137200","volume":"280","author":"T Imagawa","year":"2005","unstructured":"Imagawa T, Yamamoto T, Kaya S, Sakaguchi K, Taniguchi K. Thr-774 (transmembrane segment M5), val-920 (M8), and glu-954 (M9) are involved in Na+ transport, and gln-923 (M8) is essential for Na, K-ATPase activity. J Biol Chem. 2005;280(19):18736\u201344. https:\/\/doi.org\/10.1074\/jbc.M500137200.","journal-title":"J Biol Chem"},{"issue":"2","key":"8203_CR38","doi-asserted-by":"publisher","first-page":"65","DOI":"10.3988\/jcn.2013.9.2.65","volume":"9","author":"JS Bae","year":"2013","unstructured":"Bae JS, Simon NG, Menon P, Vucic S, Kiernan MC. The puzzling case of hyperexcitability in amyotrophic lateral sclerosis. J Clin Neurol. 2013;9(2):65\u201374. https:\/\/doi.org\/10.3988\/jcn.2013.9.2.65.","journal-title":"J Clin Neurol"},{"issue":"1","key":"8203_CR39","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1038\/s41398-022-02024-7","volume":"12","author":"H Targa Dias Anastacio","year":"2022","unstructured":"Targa Dias Anastacio H, Matosin N, Ooi L. Neuronal hyperexcitability in Alzheimer\u2019s disease: What are the drivers behind this aberrant phenotype? Transl Psychiatry. 2022;12(1):257. https:\/\/doi.org\/10.1038\/s41398-022-02024-7.","journal-title":"Transl Psychiatry"},{"issue":"5","key":"8203_CR40","doi-asserted-by":"publisher","first-page":"11","DOI":"10.3390\/brainsci11050549","volume":"11","author":"J Pradhan","year":"2021","unstructured":"Pradhan J, Bellingham MC. Neurophysiological mechanisms underlying cortical hyper-excitability in amyotrophic lateral sclerosis: a review. Brain Sci. 2021;11(5):11. https:\/\/doi.org\/10.3390\/brainsci11050549.","journal-title":"Brain Sci"},{"key":"8203_CR41","doi-asserted-by":"publisher","unstructured":"Carrasco MA, Riveros N, R\u0131\u0301os J, Muller M, Torres F, Pineda J, et al. Depolarization-induced slow calcium transients activate early genes in skeletal muscle cells. Am J Physiol-Cell Physiol. 2003;284(6):C1438\u201347. https:\/\/doi.org\/10.1152\/ajpcell.00117.2002.","DOI":"10.1152\/ajpcell.00117.2002"},{"key":"8203_CR42","doi-asserted-by":"publisher","first-page":"104577","DOI":"10.1016\/j.nbd.2019.104577","volume":"132","author":"E Arystarkhova","year":"2019","unstructured":"Arystarkhova E, Haq IU, Luebbert T, Mochel F, Saunders-Pullman R, Bressman SB, et al. Factors in the disease severity of ATP1A3 mutations: impairment, misfolding, and allele competition. Neurobiol Disease. 2019;132:104577. https:\/\/doi.org\/10.1016\/j.nbd.2019.104577.","journal-title":"Neurobiol Disease"},{"key":"8203_CR43","doi-asserted-by":"publisher","first-page":"100019","DOI":"10.1074\/jbc.RA120.015271","volume":"296","author":"E Arystarkhova","year":"2021","unstructured":"Arystarkhova E, Ozelius LJ, Brashear A, Sweadner KJ. Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na, K-ATPase ATP1A3 mutations. J Biol Chem. 2021;296:100019. https:\/\/doi.org\/10.1074\/jbc.RA120.015271.","journal-title":"J Biol Chem"},{"issue":"13","key":"8203_CR44","doi-asserted-by":"publisher","first-page":"25","DOI":"10.3390\/ijms25137414","volume":"25","author":"E Arystarkhova","year":"2024","unstructured":"Arystarkhova E, Sweadner KJ. Na, K-ATPase expression can Be limited post-transcriptionally: a test of the role of the beta subunit, and a review of evidence. IJMS. 2024;25(13):25. https:\/\/doi.org\/10.3390\/ijms25137414.","journal-title":"IJMS"},{"key":"8203_CR45","unstructured":"Pirahanchi Y, Jessu R, Aeddula NR. Physiology, sodium potassium pump. In: StatPearls. Treasure Island (FL); 2025."},{"issue":"6","key":"8203_CR46","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1242\/dmm.050574","volume":"17","author":"F Fujii","year":"2024","unstructured":"Fujii F, Kanemasa H, Okuzono S, Setoyama D, Taira R, Yonemoto K, et al. ATP1A3 regulates protein synthesis for mitochondrial stability under heat stress. Disease Model Mechanisms. 2024;17(6):17. https:\/\/doi.org\/10.1242\/dmm.050574.","journal-title":"Disease Model Mechanisms"},{"key":"8203_CR47","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.brainres.2017.04.014","volume":"1666","author":"K Ikeda","year":"2017","unstructured":"Ikeda K, Onimaru H, Kawakami K. Knockout of sodium pump \u03b13 subunit gene (Atp1a3 \u2212\/\u2212) results in perinatal seizure and defective respiratory rhythm generation. Brain Res. 2017;1666:27\u201337. https:\/\/doi.org\/10.1016\/j.brainres.2017.04.014.","journal-title":"Brain Res"},{"issue":"12","key":"8203_CR48","doi-asserted-by":"publisher","first-page":"1387","DOI":"10.1517\/14728222.2011.641533","volume":"15","author":"VB Thompson","year":"2011","unstructured":"Thompson VB, Jinnah HA, Hess EJ. Convergent mechanisms in etiologically-diverse dystonias. Expert Opin Ther Targets. 2011;15(12):1387\u2013403. https:\/\/doi.org\/10.1517\/14728222.2011.641533.","journal-title":"Expert Opin Ther Targets"},{"issue":"22","key":"8203_CR49","doi-asserted-by":"publisher","first-page":"2037","DOI":"10.1212\/WNL.0000000000000473","volume":"82","author":"S Fornarino","year":"2014","unstructured":"Fornarino S, Stagnaro M, Rinelli M, Tiziano D, Mancardi MM, Traverso M, et al. Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism. Neurology. 2014;82(22):2037\u201338. https:\/\/doi.org\/10.1212\/WNL.0000000000000473.","journal-title":"Neurology"}],"container-title":["Journal of Translational Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12967-026-08203-0","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12967-026-08203-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12967-026-08203-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T10:23:21Z","timestamp":1778754201000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s12967-026-08203-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,11]]},"references-count":49,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["8203"],"URL":"https:\/\/doi.org\/10.1186\/s12967-026-08203-0","relation":{},"ISSN":["1479-5876"],"issn-type":[{"value":"1479-5876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,11]]},"assertion":[{"value":"21 January 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 April 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 May 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All experimental procedures were approved by the Korea University Institutional Animal Care & Use Committee (No. KOREA-2020\u20130206) and were performed in accordance with the animal experiment guidelines of the Korea National Veterinary Research and Quarantine Service.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Informed consent was obtained from the patient and her parents for publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"680"}}