{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:22:54Z","timestamp":1787026974571,"version":"build-2736575974"},"reference-count":66,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,7,31]],"date-time":"2024-07-31T00:00:00Z","timestamp":1722384000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurosci."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      We previously reported that ATP1A3 c.823G&amp;gt;C (p.Ala275Pro) mutant causes varying phenotypes of alternative hemiplegia of childhood and rapid-onset dystonia-parkinsonism in the same family. This study aims to investigate the function of\n                      <jats:italic>ATP1A3<\/jats:italic>\n                      c.823G&amp;gt;C (p.Ala275Pro) mutant at the cellular and zebrafish models.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      ATP1A3 wild-type and mutant Hela cell lines were constructed, and ATP1A3 mRNA expression,\n                      <jats:italic>ATP1A3<\/jats:italic>\n                      protein expression and localization, and Na\n                      <jats:sup>+<\/jats:sup>\n                      -K\n                      <jats:sup>+<\/jats:sup>\n                      -ATPase activity in each group of cells were detected. Additionally, we also constructed zebrafish models with\n                      <jats:italic>ATP1A3<\/jats:italic>\n                      wild-type overexpression (WT) and p.Ala275Pro mutant overexpression (MUT). Subsequently, we detected the mRNA expression of dopamine signaling pathway-associated genes, Parkinson\u2019s disease-associated genes, and apoptosisassociated genes in each group of zebrafish, and observed the growth, development, and movement behavior of zebrafish.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Cells carrying the p.Ala275Pro mutation exhibited lower levels of\n                      <jats:italic>ATP1A3<\/jats:italic>\n                      mRNA, reduced\n                      <jats:italic>ATP1A3<\/jats:italic>\n                      protein expression, and decreased Na\n                      <jats:sup>+<\/jats:sup>\n                      -K\n                      <jats:sup>+<\/jats:sup>\n                      -ATPase activity compared to wild-type cells. Immunofluorescence analysis revealed that\n                      <jats:italic>ATP1A3<\/jats:italic>\n                      was primarily localized in the cytoplasm, but there was no significant difference in\n                      <jats:italic>ATP1A3<\/jats:italic>\n                      protein localization before and after the mutation. In the zebrafish model, both WT and MUT groups showed lower brain and body length, dopamine neuron fluorescence intensity, escape ability, swimming distance, and average swimming speed compared to the control group. Moreover, overexpression of both wild-type and mutant\n                      <jats:italic>ATP1A3<\/jats:italic>\n                      led to abnormal mRNA expression of genes associated with the dopamine signaling pathway and Parkinson\u2019s disease in zebrafish, and significantly upregulated transcription levels of\n                      <jats:italic>bad<\/jats:italic>\n                      and\n                      <jats:italic>caspase-3<\/jats:italic>\n                      in the apoptosis signaling pathway, while reducing the transcriptional level of\n                      <jats:italic>bcl-2<\/jats:italic>\n                      and the\n                      <jats:italic>bcl-2\/bax<\/jats:italic>\n                      ratio.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study reveals that the p.Ala275Pro mutant decreases\n                      <jats:italic>ATP1A3<\/jats:italic>\n                      protein expression and Na\n                      <jats:sup>+<\/jats:sup>\n                      \/K\n                      <jats:sup>+<\/jats:sup>\n                      -ATPase activity. Abnormal expression of either wild-type or mutant\n                      <jats:italic>ATP1A3<\/jats:italic>\n                      genes impairs growth, development, and movement behavior in zebrafish.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fnins.2024.1415576","type":"journal-article","created":{"date-parts":[[2024,7,31]],"date-time":"2024-07-31T01:01:21Z","timestamp":1722387681000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism"],"prefix":"10.3389","volume":"18","author":[{"given":"Dan-dan","family":"Ruan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Zou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-sheng","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming-dong","family":"Ji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruo-li","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian-hui","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei-zhu","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong-ping","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun-fei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie-wei","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin-fu","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,7,31]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"104577","DOI":"10.1016\/j.nbd.2019.104577","article-title":"Factors in the disease severity of ATP1A3 mutations: impairment, misfolding, and allele competition","volume":"132","author":"Arystarkhova","year":"2019","journal-title":"Neurobiol. Dis."},{"key":"ref2","doi-asserted-by":"publisher","first-page":"100019","DOI":"10.1074\/jbc.RA120.015271","article-title":"Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations","volume":"296","author":"Arystarkhova","year":"2021","journal-title":"J. Biol. Chem."},{"key":"ref3","doi-asserted-by":"publisher","first-page":"2370","DOI":"10.1093\/hmg\/ddp170","article-title":"A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism","volume":"18","author":"Blanco-Arias","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref4","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1016\/j.pediatrneurol.2014.08.015","article-title":"Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes","volume":"51","author":"Boelman","year":"2014","journal-title":"Pediatr. Neurol."},{"key":"ref5","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1002\/ana.410430417","article-title":"Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism","volume":"43","author":"Brashear","year":"1998","journal-title":"Ann. Neurol."},{"key":"ref6","doi-asserted-by":"publisher","first-page":"1066","DOI":"10.1212\/WNL.48.4.1066","article-title":"Rapid-onset dystonia-parkinsonism in a second family","volume":"48","author":"Brashear","year":"1997","journal-title":"Neurology"},{"key":"ref7","article-title":"ATP1A3-related neurologic disorders","volume-title":"GeneReviews((R))","author":"Brashear","year":"1993"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1038\/nn.2753","article-title":"The neural substrates of rapid-onset dystonia-parkinsonism","volume":"14","author":"Calderon","year":"2011","journal-title":"Nat. Neurosci."},{"key":"ref9","doi-asserted-by":"publisher","first-page":"71","DOI":"10.2147\/TACG.S210325","article-title":"Alternating hemiplegia of childhood: understanding the genotype-phenotype relationship of ATP1A3 variations","volume":"13","author":"Capuano","year":"2020","journal-title":"Appl. Clin. Genet."},{"key":"ref10","doi-asserted-by":"publisher","first-page":"371","DOI":"10.3389\/fphys.2017.00371","article-title":"The structure and function of the Na,K-ATPase isoforms in health and disease","volume":"8","author":"Clausen","year":"2017","journal-title":"Front. Physiol."},{"key":"ref11","doi-asserted-by":"publisher","first-page":"658451","DOI":"10.3389\/fneur.2021.658451","article-title":"Alternating hemiplegia of childhood: genotype-phenotype correlations in a cohort of 39 Italian patients","volume":"12","author":"Cordani","year":"2021","journal-title":"Front. Neurol."},{"key":"ref12","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1016\/j.neuron.2004.06.028","article-title":"Mutations in the Na+\/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism","volume":"43","author":"de Carvalho","year":"2004","journal-title":"Neuron"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1016\/j.bbr.2010.09.009","article-title":"Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism","volume":"216","author":"DeAndrade","year":"2011","journal-title":"Behav. Brain Res."},{"key":"ref14","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1016\/bs.irn.2019.10.007","article-title":"Parkinsonism in diseases predominantly presenting with dystonia","volume":"149","author":"Di Fonzo","year":"2019","journal-title":"Int. Rev. Neurobiol."},{"key":"ref15","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.jprot.2013.05.005","article-title":"Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood","volume":"86","author":"Di Michele","year":"2013","journal-title":"J. Proteome"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"8862","DOI":"10.1074\/jbc.M112.421529","article-title":"\u03b13Na+\/K+-ATPase deficiency causes brain ventricle dilation and abrupt embryonic motility in zebrafish","volume":"288","author":"Doganli","year":"2013","journal-title":"J. Biol. Chem."},{"key":"ref17","doi-asserted-by":"publisher","first-page":"115","DOI":"10.3389\/fnana.2016.00115","article-title":"Spatial and temporal distribution of dopaminergic neurons during development in zebrafish","volume":"10","author":"Du","year":"2016","journal-title":"Front. Neuroanat."},{"key":"ref18","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1016\/j.ejpn.2021.08.005","article-title":"ATP1A3-related disorders in the differential diagnosis of acute brainstem and cerebellar dysfunction","volume":"34","author":"Duat-Rodriguez","year":"2021","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref19","doi-asserted-by":"publisher","first-page":"26245","DOI":"10.1074\/jbc.M110.123976","article-title":"The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site","volume":"285","author":"Einholm","year":"2010","journal-title":"J. Biol. Chem."},{"key":"ref20","doi-asserted-by":"publisher","first-page":"R371","DOI":"10.1016\/j.cub.2010.02.039","article-title":"Circuit neuroscience in zebrafish","volume":"20","author":"Friedrich","year":"2010","journal-title":"Curr. Biol."},{"key":"ref21","doi-asserted-by":"publisher","first-page":"1528","DOI":"10.1002\/mds.27801","article-title":"Revising rapid-onset dystonia-parkinsonism: broadening indications for ATP1A3 testing","volume":"34","author":"Haq","year":"2019","journal-title":"Mov. Disord."},{"key":"ref22","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1016\/S1474-4422(14)70011-0","article-title":"Distinct neurological disorders with ATP1A3 mutations","volume":"13","author":"Heinzen","year":"2014","journal-title":"Lancet Neurol."},{"key":"ref23","doi-asserted-by":"publisher","first-page":"1030","DOI":"10.1038\/ng.2358","article-title":"De novo mutations in ATP1A3 cause alternating hemiplegia of childhood","volume":"44","author":"Heinzen","year":"2012","journal-title":"Nat. Genet."},{"key":"ref24","doi-asserted-by":"publisher","first-page":"321","DOI":"10.14802\/jmd.23074","article-title":"Rapid-onset dystonia and parkinsonism in a patient with Gaucher disease","volume":"16","author":"Hertz","year":"2023","journal-title":"J. Mov. Disord."},{"key":"ref25","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1016\/j.ejpn.2013.08.007","article-title":"Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status","volume":"18","author":"Hoei-Hansen","year":"2014","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref26","doi-asserted-by":"publisher","first-page":"31972","DOI":"10.1038\/srep31972","article-title":"Cognitive deficits caused by a disease-mutation in the \u03b13 Na(+)\/K(+)-ATPase isoform","volume":"6","author":"Holm","year":"2016","journal-title":"Sci. Rep."},{"key":"ref27","first-page":"12708","article-title":"Down-regulated Na(+)\/K(+)-ATPase activity in ischemic penumbra after focal cerebral ischemia\/reperfusion in rats","volume":"8","author":"Huang","year":"2015","journal-title":"Int. J. Clin. Exp. Pathol."},{"key":"ref28","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.brainres.2017.04.014","article-title":"Knockout of sodium pump alpha3 subunit gene (Atp1a3(\u2212\/\u2212)) results in perinatal seizure and defective respiratory rhythm generation","volume":"1666","author":"Ikeda","year":"2017","journal-title":"Brain Res."},{"key":"ref29","doi-asserted-by":"publisher","first-page":"e1006763","DOI":"10.1371\/journal.pgen.1006763","article-title":"Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump","volume":"13","author":"Isaksen","year":"2017","journal-title":"PLoS Genet."},{"key":"ref30","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1002\/cne.25234","article-title":"Comparative description of the mRNA expression profile of Na(+) \/K(+) -ATPase isoforms in adult mouse nervous system","volume":"530","author":"Jiao","year":"2022","journal-title":"J. Comp. Neurol."},{"key":"ref31","doi-asserted-by":"publisher","first-page":"821","DOI":"10.1016\/B978-0-444-52910-7.00001-5","article-title":"Alternating hemiplegia of childhood","volume":"112","author":"Kansagra","year":"2013","journal-title":"Handb. Clin. Neurol."},{"key":"ref32","doi-asserted-by":"publisher","first-page":"e60141","DOI":"10.1371\/journal.pone.0060141","article-title":"Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+,K+-ATPase alpha3 missense mutant mice","volume":"8","author":"Kirshenbaum","year":"2013","journal-title":"PLoS One"},{"key":"ref33","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1111\/j.1601-183X.2011.00691.x","article-title":"Decreased neuronal Na+, K+ -ATPase activity in Atp1a3 heterozygous mice increases susceptibility to depression-like endophenotypes by chronic variable stress","volume":"10","author":"Kirshenbaum","year":"2011","journal-title":"Genes Brain Behav."},{"key":"ref34","doi-asserted-by":"publisher","first-page":"51213","DOI":"10.1074\/jbc.M306384200","article-title":"Electrophysiological analysis of the mutated Na,K-ATPase cation binding pocket","volume":"278","author":"Koenderink","year":"2003","journal-title":"J. Biol. Chem."},{"key":"ref35","doi-asserted-by":"publisher","first-page":"120003","DOI":"10.1016\/j.jns.2021.120003","article-title":"The diagnostic spectrum of ATP1A3-related disorders: 3 new patients","volume":"430","author":"Lax","year":"2021","journal-title":"J. Neurol. Sci."},{"key":"ref36","doi-asserted-by":"publisher","first-page":"105012","DOI":"10.1016\/j.nbd.2020.105012","article-title":"Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity","volume":"143","author":"Lazarov","year":"2020","journal-title":"Neurobiol. Dis."},{"key":"ref37","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1002\/mds.25536","article-title":"Genetics of dystonia: what's known? What's new? What's next?","volume":"28","author":"Lohmann","year":"2013","journal-title":"Mov. Disord."},{"key":"ref38","doi-asserted-by":"publisher","first-page":"eabd2368","DOI":"10.1126\/sciadv.abd2368","article-title":"De novo ATP1A3 variants cause polymicrogyria","volume":"7","author":"Miyatake","year":"2021","journal-title":"Sci. Adv."},{"key":"ref39","doi-asserted-by":"publisher","first-page":"616","DOI":"10.1523\/JNEUROSCI.4464-06.2007","article-title":"Deficiency in Na,K-ATPase alpha isoform genes alters spatial learning, motor activity, and anxiety in mice","volume":"27","author":"Moseley","year":"2007","journal-title":"J. Neurosci."},{"key":"ref40","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1111\/dmcn.14705","article-title":"ATP1A3-related neurological disorders and cerebellar ataxia in childhood","volume":"63","author":"Ng","year":"2021","journal-title":"Dev. Med. Child Neurol."},{"key":"ref41","doi-asserted-by":"publisher","first-page":"dmm048938","DOI":"10.1242\/dmm.048938","article-title":"Genetically altered animal models for ATP1A3-related disorders","volume":"14","author":"Ng","year":"2021","journal-title":"Dis. Model. Mech."},{"key":"ref42","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/j.parkreldis.2016.05.029","article-title":"Childhood-onset ATP1A3-related conditions: report of two new cases of phenotypic spectrum","volume":"30","author":"Nicita","year":"2016","journal-title":"Parkinsonism Relat. Disord."},{"key":"ref43","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1186\/s13023-015-0335-5","article-title":"Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients","volume":"10","author":"Panagiotakaki","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"ref44","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1111\/j.1748-1716.2006.01562.x","article-title":"On the mechanism of ionic regulation of apoptosis: would the Na+\/K+-ATPase please stand up?","volume":"187","author":"Panayiotidis","year":"2006","journal-title":"Acta Physiol (Oxf.)"},{"key":"ref45","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1002\/mdc3.12263","article-title":"A distinct phenotype in a novel ATP1A3 mutation: connecting the two ends of a Spectrum","volume":"3","author":"Pereira","year":"2016","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref46","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1002\/mdc3.13388","article-title":"Non-stationary outcome of alternating hemiplegia of childhood into adulthood","volume":"9","author":"Perulli","year":"2022","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref47","doi-asserted-by":"publisher","first-page":"113109","DOI":"10.1016\/j.expneurol.2019.113109","article-title":"Striatal dopaminergic dysregulation and dystonia-like movements induced by sensorimotor stress in a pharmacological mouse model of rapid-onset dystonia-parkinsonism","volume":"323","author":"Rauschenberger","year":"2020","journal-title":"Exp. Neurol."},{"key":"ref48","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1074\/jbc.RA118.004591","article-title":"Functional consequences of the CAPOS mutation E818K of Na(+),K(+)-ATPase","volume":"294","author":"Roenn","year":"2019","journal-title":"J. Biol. Chem."},{"key":"ref49","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1212\/WNL.0000000000000212","article-title":"The expanding clinical and genetic spectrum of ATP1A3-related disorders","volume":"82","author":"Rosewich","year":"2014","journal-title":"Neurology"},{"key":"ref50","doi-asserted-by":"publisher","first-page":"1457","DOI":"10.1002\/mds.25396","article-title":"The multiple faces of the ATP1A3-related dystonic movement disorder","volume":"28","author":"Roubergue","year":"2013","journal-title":"Mov. Disord."},{"key":"ref51","doi-asserted-by":"publisher","first-page":"637890","DOI":"10.3389\/fneur.2021.637890","article-title":"ATP1A3-related disorders: an ever-expanding clinical Spectrum","volume":"12","author":"Salles","year":"2021","journal-title":"Front. Neurol."},{"key":"ref52","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1007\/s12311-018-0920-y","article-title":"Childhood rapid-onset Ataxia: expanding the phenotypic Spectrum of ATP1A3 mutations","volume":"17","author":"Schirinzi","year":"2018","journal-title":"Cerebellum"},{"key":"ref53","doi-asserted-by":"publisher","first-page":"397","DOI":"10.4103\/aian.AIAN_41_19","article-title":"CAPOS syndrome: a rare ATP1A3-related disorder","volume":"23","author":"Sharawat","year":"2020","journal-title":"Ann. Indian Acad. Neurol."},{"key":"ref54","doi-asserted-by":"publisher","first-page":"107461","DOI":"10.1016\/j.neuropharm.2018.12.008","article-title":"Cell biology and dynamics of neuronal Na(+)\/K(+)-ATPase in health and diseases","volume":"169","author":"Shrivastava","year":"2020","journal-title":"Neuropharmacology"},{"key":"ref55","doi-asserted-by":"publisher","first-page":"336","DOI":"10.5334\/tohm.255","article-title":"Intermediate phenotypes of ATP1A3 mutations: phenotype-genotype correlations","volume":"5","author":"Termsarasab","year":"2015","journal-title":"Tremor Other Hyperkinet. Mov. (N Y)"},{"key":"ref56","doi-asserted-by":"publisher","first-page":"38607","DOI":"10.1074\/jbc.M203665200","article-title":"Importance of Glu(282) in transmembrane segment M3 of the Na(+),K(+)-ATPase for control of cation interaction and conformational changes","volume":"277","author":"Toustrup-Jensen","year":"2002","journal-title":"J. Biol. Chem."},{"key":"ref57","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1684\/epd.2020.1127","article-title":"Epileptic encephalopathy with features of rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation","volume":"22","author":"Tran","year":"2020","journal-title":"Epileptic Disord."},{"key":"ref58","doi-asserted-by":"publisher","first-page":"fcab128","DOI":"10.1093\/braincomms\/fcab128","article-title":"Alternating hemiplegia of childhood: evolution over time and mouse model corroboration","volume":"3","author":"Uchitel","year":"2021","journal-title":"Brain Commun."},{"key":"ref59","doi-asserted-by":"publisher","first-page":"e1511","DOI":"10.1212\/WNL.0000000000200927","article-title":"The phenotypic continuum of ATP1A3-related disorders","volume":"99","author":"Vezyroglou","year":"2022","journal-title":"Neurology"},{"key":"ref60","doi-asserted-by":"publisher","first-page":"e0127045","DOI":"10.1371\/journal.pone.0127045","article-title":"Alternating hemiplegia of childhood: retrospective genetic study and genotype-phenotype correlations in 187 subjects from the US AHCF registry","volume":"10","author":"Viollet","year":"2015","journal-title":"PLoS One"},{"key":"ref61","doi-asserted-by":"publisher","first-page":"2800","DOI":"10.1111\/cns.14216","article-title":"Association of coffee consumption and striatal volume in patients with Parkinson's disease and healthy controls","volume":"29","author":"Wang","year":"2023","journal-title":"CNS Neurosci. Ther."},{"key":"ref62","doi-asserted-by":"publisher","first-page":"2555","DOI":"10.1007\/s10072-021-05673-6","article-title":"Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family","volume":"43","author":"Wei","year":"2022","journal-title":"Neurol. Sci."},{"key":"ref63","doi-asserted-by":"publisher","first-page":"1010","DOI":"10.1016\/j.bbadis.2014.03.002","article-title":"Alternating hemiplegia of childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding","volume":"1842","author":"Weigand","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"ref64","doi-asserted-by":"publisher","first-page":"150","DOI":"10.24920\/003850","article-title":"Alternating hemiplegia of childhood caused by ATP1A3 mutations: a report of two cases","volume":"36","author":"Yang","year":"2021","journal-title":"Chin. Med. Sci. J."},{"key":"ref65","doi-asserted-by":"publisher","first-page":"933893","DOI":"10.3389\/fnagi.2022.933893","article-title":"ATP1A3 mutation in rapid-onset dystonia parkinsonism: new data and genotype-phenotype correlation analysis","volume":"14","author":"Yu","year":"2022","journal-title":"Front. Aging Neurosci."},{"key":"ref66","doi-asserted-by":"publisher","first-page":"1143956","DOI":"10.3389\/fncel.2023.1143956","article-title":"The role of ATP1A3 gene in epilepsy: we need to know more","volume":"17","author":"Zou","year":"2023","journal-title":"Front. Cell. Neurosci."}],"container-title":["Frontiers in Neuroscience"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fnins.2024.1415576\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,31]],"date-time":"2024-07-31T01:01:25Z","timestamp":1722387685000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fnins.2024.1415576\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,31]]},"references-count":66,"alternative-id":["10.3389\/fnins.2024.1415576"],"URL":"https:\/\/doi.org\/10.3389\/fnins.2024.1415576","relation":{},"ISSN":["1662-453X"],"issn-type":[{"value":"1662-453X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,31]]},"article-number":"1415576"}}