{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T10:13:56Z","timestamp":1792059236738,"version":"4.4.0"},"reference-count":150,"publisher":"The Company of Biologists","issue":"10","license":[{"start":{"date-parts":[[2021,10,6]],"date-time":"2021-10-06T00:00:00Z","timestamp":1633478400000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100000544","name":"British Association for Psychopharmacology","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000544","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Ethel and Gwynne Morgan Trust"},{"DOI":"10.13039\/501100000849","name":"National Centre for the Replacement, Refinement and Reduction of Animals in Research","doi-asserted-by":"crossref","award":["NC\/S001719\/1"],"award-info":[{"award-number":["NC\/S001719\/1"]}],"id":[{"id":"10.13039\/501100000849","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000268","name":"Biotechnology and Biological Sciences Research Council","doi-asserted-by":"crossref","award":["BB\/R019401\/1"],"award-info":[{"award-number":["BB\/R019401\/1"]}],"id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,10,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Within the past 20\u2005years, particularly with the advent of exome sequencing technologies, autosomal dominant and de novo mutations in the gene encoding the neurone-specific \u03b13 subunit of the Na+,K+-ATPase (NKA \u03b13) pump, ATP1A3, have been identified as the cause of a phenotypic continuum of rare neurological disorders. These allelic disorders of ATP1A3 include (in approximate order of severity\/disability and onset in childhood development): polymicrogyria; alternating hemiplegia of childhood; cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss syndrome; relapsing encephalopathy with cerebellar ataxia; and rapid-onset dystonia-parkinsonism. Some patients present intermediate, atypical or combined phenotypes. As these disorders are currently difficult to treat, there is an unmet need for more effective therapies. The molecular mechanisms through which mutations in ATP1A3 result in a broad range of neurological symptoms are poorly understood. However, in vivo comparative studies using genetically altered model organisms can provide insight into the biological consequences of the disease-causing mutations in NKA \u03b13. Herein, we review the existing mouse, zebrafish, Drosophila and Caenorhabditis elegans models used to study ATP1A3-related disorders, and discuss their potential contribution towards the understanding of disease mechanisms and development of novel therapeutics.<\/jats:p>","DOI":"10.1242\/dmm.048938","type":"journal-article","created":{"date-parts":[[2021,10,6]],"date-time":"2021-10-06T08:49:19Z","timestamp":1633510159000},"source":"Crossref","is-referenced-by-count":15,"title":["Genetically altered animal models for<i>ATP1A3<\/i>-related disorders"],"prefix":"10.1242","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3742-0688","authenticated-orcid":false,"given":"Hannah W. Y.","family":"Ng","sequence":"first","affiliation":[{"name":"School of Biomedical Sciences, University of Leeds, Leeds LS2 9JT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6303-5548","authenticated-orcid":false,"given":"Jennifer A.","family":"Ogbeta","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences, University of Leeds, Leeds LS2 9JT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6662-5690","authenticated-orcid":false,"given":"Steven J.","family":"Clapcote","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences, University of Leeds, Leeds LS2 9JT, UK"},{"name":"European Network for Research on Alternating Hemiplegia (ENRAH), 1120 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2021,10,6]]},"reference":[{"key":"2021100608471931200_DMM048938C1","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1146\/annurev.bi.36.070167.003455","article-title":"Biochemical aspects of active transport","volume":"36","author":"Albers","year":"1967","journal-title":"Annu. Rev. Biochem."},{"key":"2021100608471931200_DMM048938C2","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1212\/WNL.0b013e3181b04acd","article-title":"Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation","volume":"73","author":"Anselm","year":"2009","journal-title":"Neurology"},{"key":"2021100608471931200_DMM048938C3","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":"2021100608471931200_DMM048938C4","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1007\/s00439-009-0673-2","article-title":"Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity","volume":"126","author":"Ashmore","year":"2009","journal-title":"Hum. Genet."},{"key":"2021100608471931200_DMM048938C5","doi-asserted-by":"publisher","first-page":"2734","DOI":"10.1074\/jbc.M112.425785","article-title":"A specific and essential role for Na,K-ATPase \u03b13 in neurons co-expressing \u03b11 and \u03b13","volume":"288","author":"Azarias","year":"2013","journal-title":"J. Biol. Chem."},{"key":"2021100608471931200_DMM048938C6","doi-asserted-by":"publisher","first-page":"e2866","DOI":"10.1212\/WNL.0000000000010794","article-title":"Cardiac phenotype in ATP1A3-related syndromes: a multicenter cohort study","volume":"95","author":"Balestrini","year":"2020","journal-title":"Neurology"},{"key":"2021100608471931200_DMM048938C7","doi-asserted-by":"publisher","first-page":"eaav6528","DOI":"10.1126\/sciadv.aav6528","article-title":"A personalized platform identifies trametinib plus zoledronate for a patient with KRAS-mutant metastatic colorectal cancer","volume":"5","author":"Bangi","year":"2019","journal-title":"Sci. Adv."},{"key":"2021100608471931200_DMM048938C8","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":"2021100608471931200_DMM048938C9","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":"2021100608471931200_DMM048938C10","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1016\/S0022-3476(06)80003-X","article-title":"Alternating hemiplegia of childhood","volume":"122","author":"Bourgeois","year":"1993","journal-title":"J. Pediatr."},{"key":"2021100608471931200_DMM048938C11","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1242\/dev.118.2.401","article-title":"Targeted gene expression as a means of altering cell fates and generating dominant phenotypes","volume":"118","author":"Brand","year":"1993","journal-title":"Development"},{"key":"2021100608471931200_DMM048938C12","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":"2021100608471931200_DMM048938C13","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1002\/1531-8257(199901)14:1&lt;132::AID-MDS1022&gt;3.0.CO;2-J","article-title":"PET imaging of the pre-synaptic dopamine uptake sites in rapid-onset dystonia-parkinsonism (RDP)","volume":"14","author":"Brashear","year":"1999","journal-title":"Mov. Disord."},{"key":"2021100608471931200_DMM048938C14","doi-asserted-by":"publisher","first-page":"828","DOI":"10.1093\/brain\/awl340","article-title":"The phenotypic spectrum of rapid-onset dystonia\u2013parkinsonism (RDP) and mutations in the ATP1A3 gene","volume":"130","author":"Brashear","year":"2007","journal-title":"Brain"},{"key":"2021100608471931200_DMM048938C15","doi-asserted-by":"publisher","first-page":"1168","DOI":"10.1212\/WNL.0b013e3182698d6c","article-title":"Psychiatric disorders in rapid-onset dystonia-parkinsonism","volume":"79","author":"Brashear","year":"2012","journal-title":"Neurology"},{"key":"2021100608471931200_DMM048938C16","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.1111\/j.1469-8749.2012.04421.x","article-title":"ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia","volume":"54","author":"Brashear","year":"2012","journal-title":"Dev. Med. Child Neurol."},{"key":"2021100608471931200_DMM048938C17","doi-asserted-by":"publisher","first-page":"5789","DOI":"10.3390\/molecules25245789","article-title":"Comprehensive review on Alzheimer's disease: causes and treatment","volume":"25","author":"Breijyeh","year":"2020","journal-title":"Molecules"},{"key":"2021100608471931200_DMM048938C18","doi-asserted-by":"publisher","first-page":"D36","DOI":"10.1093\/nar\/gku1055","article-title":"Gene: a gene-centered information resource at NCBI","volume":"43","author":"Brown","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"2021100608471931200_DMM048938C19","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1002\/ajmg.a.38502","article-title":"Novel pregnancy-triggered episodes of CAPOS syndrome","volume":"176","author":"Chang","year":"2018","journal-title":"Am. J. Med. Genet. A"},{"key":"2021100608471931200_DMM048938C20","doi-asserted-by":"publisher","first-page":"821","DOI":"10.1038\/s41380-018-0103-8","article-title":"Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia","volume":"25","author":"Chaumette","year":"2020","journal-title":"Mol. Psychiatry"},{"key":"2021100608471931200_DMM048938C21","doi-asserted-by":"publisher","first-page":"14085","DOI":"10.1073\/pnas.0904817106","article-title":"Mutation I810N in the \u03b13 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS","volume":"106","author":"Clapcote","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021100608471931200_DMM048938C22","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1002\/mds.25790","article-title":"Cognitive impairment in rapid-onset dystonia-parkinsonism","volume":"29","author":"Cook","year":"2014","journal-title":"Mov. Disord."},{"key":"2021100608471931200_DMM048938C23","doi-asserted-by":"publisher","first-page":"1183","DOI":"10.1111\/dmcn.12927","article-title":"Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation","volume":"57","author":"Dard","year":"2015","journal-title":"Dev. Med. Child Neurol."},{"key":"2021100608471931200_DMM048938C24","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":"2021100608471931200_DMM048938C25","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1016\/j.neuron.2004.06.028","article-title":"Mutations in the Na+\/K+-ATPase \u03b13 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism","volume":"43","author":"de Carvalho Aguiar","year":"2004","journal-title":"Neuron"},{"key":"2021100608471931200_DMM048938C26","article-title":"Temperature","volume-title":"Clinical Methods:The History, Physical, and Laboratory Examinations","author":"Del Bene","year":"1990","edition":"3rd edn"},{"key":"2021100608471931200_DMM048938C27","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1186\/1750-1172-9-15","article-title":"A novel recurrent mutation in ATP1A3 causes CAPOS syndrome","volume":"9","author":"Demos","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"2021100608471931200_DMM048938C28","doi-asserted-by":"publisher","first-page":"2596","DOI":"10.1212\/WNL.43.12.2596","article-title":"Rapid-onset dystonia-parkinsonism","volume":"43","author":"Dobyns","year":"1993","journal-title":"Neurology"},{"key":"2021100608471931200_DMM048938C29","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":"Do\u011fanl\u0131","year":"2013","journal-title":"J. Biol. Chem."},{"key":"2021100608471931200_DMM048938C30","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1016\/j.pediatrneurol.2017.01.009","article-title":"Early diagnosis of CAPOS syndrome before acute-onset ataxia\u2014review of the literature and a new family","volume":"71","author":"Duat Rodriguez","year":"2017","journal-title":"Pediatr. Neurol."},{"key":"2021100608471931200_DMM048938C31","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1023\/A:1010623724749","article-title":"The functional role of \u03b2 subunits in oligomeric P-type ATPases","volume":"33","author":"Geering","year":"2001","journal-title":"J. Bioenerg. Biomembr."},{"key":"2021100608471931200_DMM048938C32","doi-asserted-by":"publisher","first-page":"1193","DOI":"10.1083\/jcb.133.6.1193","article-title":"Oligomerization and maturation of Na,K-ATPase: functional interaction of the cytoplasmic NH2 terminus of the beta subunit with the alpha subunit","volume":"133","author":"Geering","year":"1996","journal-title":"J. Cell Biol."},{"key":"2021100608471931200_DMM048938C34","first-page":"34","article-title":"Neuropathologic findings associated with seizures in FVB mice","volume":"48","author":"Goelz","year":"1998","journal-title":"Lab Anim Sci."},{"key":"2021100608471931200_DMM048938C35","doi-asserted-by":"publisher","first-page":"2698","DOI":"10.1002\/ajmg.a.37808","article-title":"Recognizable facial features in patients with alternating hemiplegia of childhood","volume":"170","author":"Gurrieri","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"2021100608471931200_DMM048938C36","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1152\/jn.1990.63.2.225","article-title":"Role of Na-K pump potassium regulation and IPSPs in seizures and spreading depression in immature rabbit hippocampal slices","volume":"63","author":"Haglund","year":"1990","journal-title":"J. Neurophysiol."},{"key":"2021100608471931200_DMM048938C37","doi-asserted-by":"publisher","first-page":"16504","DOI":"10.1038\/s41598-017-16676-9","article-title":"ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy","volume":"7","author":"Han","year":"2017","journal-title":"Sci. Rep."},{"key":"2021100608471931200_DMM048938C38","doi-asserted-by":"publisher","first-page":"1528","DOI":"10.1002\/mds.27801","article-title":"Revising rapid-onset dystonia\u2013parkinsonism: broadening indications for ATP1A3 testing","volume":"34","author":"Haq","year":"2019","journal-title":"Mov. Disord."},{"key":"2021100608471931200_DMM048938C39","doi-asserted-by":"publisher","first-page":"762","DOI":"10.1016\/j.neuron.2012.08.019","article-title":"Synaptic energy use and supply","volume":"75","author":"Harris","year":"2012","journal-title":"Neuron"},{"key":"2021100608471931200_DMM048938C40","doi-asserted-by":"publisher","first-page":"1749","DOI":"10.1177\/0883073815579708","article-title":"CAOS\u2014episodic cerebellar ataxia, areflexia, optic atrophy, and sensorineural hearing loss: a third allelic disorder of the ATP1A3 gene","volume":"30","author":"Heimer","year":"2015","journal-title":"J. Child Neurol."},{"key":"2021100608471931200_DMM048938C41","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":"2021100608471931200_DMM048938C42","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1016\/j.nbd.2018.07.028","article-title":"Novel E815K knock-in mouse model of alternating hemiplegia of childhood","volume":"119","author":"Helseth","year":"2018","journal-title":"Neurobiol. Dis."},{"key":"2021100608471931200_DMM048938C43","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":"2021100608471931200_DMM048938C44","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":"2021100608471931200_DMM048938C45","doi-asserted-by":"publisher","first-page":"1807","DOI":"10.1016\/j.bbabio.2016.08.009","article-title":"Neurological disease mutations of \u03b13 Na+,K+-ATPase: Structural and functional perspectives and rescue of compromised function","volume":"1857","author":"Holm","year":"2016","journal-title":"Biochim. Biophys. Acta (BBA) Bioenerg."},{"key":"2021100608471931200_DMM048938C46","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1007\/s10048-016-0498-9","article-title":"Mosaicism in ATP1A3-related disorders: not just a theoretical risk","volume":"18","author":"Hully","year":"2017","journal-title":"Neurogenetics"},{"key":"2021100608471931200_DMM048938C47","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1111\/epi.12878","article-title":"Knock-in mouse model of alternating hemiplegia of childhood: Behavioral and electrophysiologic characterization","volume":"56","author":"Hunanyan","year":"2015","journal-title":"Epilepsia"},{"key":"2021100608471931200_DMM048938C48","doi-asserted-by":"publisher","first-page":"1455","DOI":"10.1111\/epi.14441","article-title":"Mechanisms of increased hippocampal excitability in the Mashl+\/\u2212 mouse model of Na+\/K+-ATPase dysfunction","volume":"59","author":"Hunanyan","year":"2018","journal-title":"Epilepsia"},{"key":"2021100608471931200_DMM048938C49","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1089\/hum.2020.191","article-title":"Adeno-associated virus-mediated gene therapy in the Mashlool, Atp1a3Mashl\/+, mouse model of alternating hemiplegia of childhood","volume":"32","author":"Hunanyan","year":"2021","journal-title":"Hum. Gene Ther."},{"key":"2021100608471931200_DMM048938C50","doi-asserted-by":"publisher","first-page":"5040","DOI":"10.1016\/S0021-9258(18)42725-1","article-title":"Insulin induces translocation of the alpha 2 and beta 1 subunits of the Na+\/K+-ATPase from intracellular compartments to the plasma membrane in mammalian skeletal muscle","volume":"267","author":"Hundal","year":"1992","journal-title":"J. Biol. Chem."},{"key":"2021100608471931200_DMM048938C51","doi-asserted-by":"publisher","first-page":"3433","DOI":"10.1113\/jphysiol.2012.247817","article-title":"Enhanced inhibitory neurotransmission in the cerebellar cortex of Atp1a3-deficient heterozygous mice","volume":"591","author":"Ikeda","year":"2013","journal-title":"J. Physiol."},{"key":"2021100608471931200_DMM048938C52","doi-asserted-by":"publisher","first-page":"e0246678","DOI":"10.1371\/journal.pone.0246678","article-title":"Decreased content of ascorbic acid (vitamin C) in the brain of knockout mouse models of Na+,K+-ATPase-related neurologic disorders","volume":"16","author":"Ikeda","year":"2021","journal-title":"PLoS ONE"},{"key":"2021100608471931200_DMM048938C53","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":"2021100608471931200_DMM048938C54","doi-asserted-by":"publisher","first-page":"e56120","DOI":"10.1371\/journal.pone.0056120","article-title":"Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in japanese patients","volume":"8","author":"Ishii","year":"2013","journal-title":"PLoS ONE"},{"key":"2021100608471931200_DMM048938C55","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1016\/j.braindev.2017.11.007","article-title":"Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene","volume":"40","author":"Ito","year":"2018","journal-title":"Brain Dev."},{"key":"2021100608471931200_DMM048938C56","doi-asserted-by":"publisher","first-page":"e145","DOI":"10.1212\/NXG.0000000000000145","article-title":"Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation","volume":"3","author":"Jaffer","year":"2017","journal-title":"Neurol Genet."},{"key":"2021100608471931200_DMM048938C57","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1111\/dmcn.14077","article-title":"Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood","volume":"61","author":"Jasien","year":"2019","journal-title":"Dev. Med. Child Neurol."},{"key":"2021100608471931200_DMM048938C58","doi-asserted-by":"publisher","first-page":"19003","DOI":"10.1074\/jbc.M500697200","article-title":"Na,K-ATPase from mice lacking the \u03b3 subunit (FXYD2) exhibits altered Na+ affinity and decreased thermal stability","volume":"280","author":"Jones","year":"2005","journal-title":"J. Biol. Chem."},{"key":"2021100608471931200_DMM048938C59","doi-asserted-by":"publisher","first-page":"1501","DOI":"10.1212\/01.wnl.0000310431.41036.e0","article-title":"Novel ATP1A3 mutation in a sporadic RDP patient with minimal benefit from deep brain stimulation","volume":"70","author":"Kamm","year":"2008","journal-title":"Neurology"},{"key":"2021100608471931200_DMM048938C60","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1002\/mds.20695","article-title":"Sporadic rapid-onset dystonia\u2013parkinsonism presenting as Parkinson's disease","volume":"21","author":"Kamphuis","year":"2006","journal-title":"Mov. Disord."},{"key":"2021100608471931200_DMM048938C61","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1038\/nature12578","article-title":"Crystal structure of a Na+-bound Na+,K+-ATPase preceding the E1P state","volume":"502","author":"Kanai","year":"2013","journal-title":"Nature"},{"key":"2021100608471931200_DMM048938C62","doi-asserted-by":"publisher","first-page":"65","DOI":"10.5664\/jcsm.7572","article-title":"Polysomnography findings and sleep disorders in children with alternating hemiplegia of childhood","volume":"15","author":"Kansagra","year":"2019","journal-title":"J. Clin. Sleep Med."},{"key":"2021100608471931200_DMM048938C63","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1146\/annurev.biochem.71.102201.141218","article-title":"Biochemistry of Na,K-ATPase","volume":"71","author":"Kaplan","year":"2002","journal-title":"Annu. Rev. Biochem."},{"key":"2021100608471931200_DMM048938C64","doi-asserted-by":"publisher","first-page":"18144","DOI":"10.1073\/pnas.1108416108","article-title":"Mania-like behavior induced by genetic dysfunction of the neuron-specific Na+,K+-ATPase \u03b13 sodium pump","volume":"108","author":"Kirshenbaum","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021100608471931200_DMM048938C65","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":"2021100608471931200_DMM048938C66","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 \u03b13 missense mutant mice","volume":"8","author":"Kirshenbaum","year":"2013","journal-title":"PLoS ONE"},{"key":"2021100608471931200_DMM048938C67","doi-asserted-by":"publisher","first-page":"822","DOI":"10.1037\/bne0000097","article-title":"Characterization of cognitive deficits in mice with an alternating hemiplegia-linked mutation","volume":"129","author":"Kirshenbaum","year":"2015","journal-title":"Behav. Neurosci."},{"key":"2021100608471931200_DMM048938C68","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1007\/s10048-015-0461-1","article-title":"Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood","volume":"17","author":"Kirshenbaum","year":"2016","journal-title":"Neurogenetics"},{"key":"2021100608471931200_DMM048938C69","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1080\/01677063.2016.1182525","article-title":"Deficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood","volume":"30","author":"Kirshenbaum","year":"2016","journal-title":"J. Neurogenet."},{"key":"2021100608471931200_DMM048938C70","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1016\/j.cell.2016.10.044","article-title":"CRISPR-based technologies for the manipulation of eukaryotic genomes","volume":"168","author":"Komor","year":"2017","journal-title":"Cell"},{"key":"2021100608471931200_DMM048938C71","doi-asserted-by":"publisher","first-page":"12719","DOI":"10.1038\/s41598-019-49110-3","article-title":"Efficient generation of Knock-in\/Knock-out marmoset embryo via CRISPR\/Cas9 gene editing","volume":"9","author":"Kumita","year":"2019","journal-title":"Sci. Rep."},{"key":"2021100608471931200_DMM048938C72","doi-asserted-by":"publisher","first-page":"E320","DOI":"10.1152\/ajpendo.00446.2014","article-title":"Arcuate Na+,K+-ATPase senses systemic energy states and regulates feeding behavior through glucose-inhibited neurons","volume":"309","author":"Kurita","year":"2015","journal-title":"Am. J. Physiol.-Endocrinol. Metab."},{"key":"2021100608471931200_DMM048938C73","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1186\/s13023-021-01688-6","article-title":"Exome sequencing in paediatric patients with movement disorders","volume":"16","author":"Kwong","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"2021100608471931200_DMM048938C74","doi-asserted-by":"publisher","first-page":"6737","DOI":"10.1021\/bi00077a029","article-title":"An essential role for the extracellular domain of the sodium-potassium-ATPase .beta.-subunit in cation occlusion","volume":"32","author":"Lutsenko","year":"1993","journal-title":"Biochemistry"},{"key":"2021100608471931200_DMM048938C75","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/j.pediatrneurol.2016.02.010","article-title":"The genetic homogeneity of CAPOS syndrome: four new patients with the c.2452G&gt;A (p.Glu818Lys) mutation in the ATP1A3 gene","volume":"59","author":"Maas","year":"2016","journal-title":"Pediatr. Neurol."},{"key":"2021100608471931200_DMM048938C76","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1016\/j.braindev.2018.05.008","article-title":"Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: about three children with novel ATP1A3 mutations","volume":"40","author":"Marzin","year":"2018","journal-title":"Brain Dev."},{"key":"2021100608471931200_DMM048938C77","doi-asserted-by":"publisher","first-page":"1598","DOI":"10.1096\/fasebj.4.6.2156741","article-title":"The sodium pump needs its \u03b2 subunit","volume":"4","author":"McDonough","year":"1990","journal-title":"FASEB J."},{"key":"2021100608471931200_DMM048938C78","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1523\/JNEUROSCI.11-02-00381.1991","article-title":"Immunofluorescent localization of three Na,K-ATPase isozymes in the rat central nervous system: both neurons and glia can express more than one Na,K-ATPase","volume":"11","author":"McGrail","year":"1991","journal-title":"J. Neurosci."},{"key":"2021100608471931200_DMM048938C79","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1007\/s10162-008-0152-9","article-title":"Distribution of the Na,K-ATPase \u03b1 subunit in the rat spiral ganglion and organ of corti","volume":"10","author":"McLean","year":"2009","journal-title":"J. Assoc. Res. Otolaryngol."},{"key":"2021100608471931200_DMM048938C80","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1016\/S0960-9822(06)00378-2","article-title":"Spongecake and eggroll: two hereditary diseases in Drosophila resemble patterns of human brain degeneration","volume":"7","author":"Min","year":"1997","journal-title":"Curr. Biol."},{"key":"2021100608471931200_DMM048938C81","doi-asserted-by":"publisher","first-page":"9699","DOI":"10.1074\/jbc.M110.184234","article-title":"FXYD proteins stabilize Na,K-ATPase","volume":"286","author":"Mishra","year":"2011","journal-title":"J. Biol. Chem."},{"key":"2021100608471931200_DMM048938C82","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":"2021100608471931200_DMM048938C151","doi-asserted-by":"publisher","first-page":"1140","DOI":"10.1038\/mp.2016.51","article-title":"Insulin signaling misregulation underlies circadian and cognitive deficits in a Drosophila fragile X model","volume":"22","author":"Monyak","year":"2017","journal-title":"Mol. Psychiatry"},{"key":"2021100608471931200_DMM048938C83","doi-asserted-by":"publisher","first-page":"1043","DOI":"10.1038\/nature06419","article-title":"Crystal structure of the sodium\u2013potassium pump","volume":"450","author":"Morth","year":"2007","journal-title":"Nature"},{"key":"2021100608471931200_DMM048938C84","doi-asserted-by":"publisher","first-page":"616","DOI":"10.1523\/JNEUROSCI.4464-06.2007","article-title":"Deficiency in Na,K-ATPase \u03b1 isoform genes alters spatial learning, motor activity, and anxiety in mice","volume":"27","author":"Moseley","year":"2007","journal-title":"J. Neurosci"},{"key":"2021100608471931200_DMM048938C85","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1016\/j.braindev.2017.09.010","article-title":"A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever","volume":"40","author":"Nakamura","year":"2018","journal-title":"Brain Dev."},{"key":"2021100608471931200_DMM048938C86","doi-asserted-by":"publisher","first-page":"777","DOI":"10.1111\/j.1469-8749.2007.00777.x","article-title":"The treatment and management of alternating hemiplegia of childhood","volume":"49","author":"Neville","year":"2007","journal-title":"Dev. Med. Child Neurol."},{"key":"2021100608471931200_DMM048938C87","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":"2021100608471931200_DMM048938C88","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1007\/s00401-014-1279-x","article-title":"Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings","volume":"128","author":"Oblak","year":"2014","journal-title":"Acta Neuropathol."},{"key":"2021100608471931200_DMM048938C89","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1111\/epi.12914","article-title":"Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly","volume":"56","author":"Paciorkowski","year":"2015","journal-title":"Epilepsia"},{"key":"2021100608471931200_DMM048938C90","doi-asserted-by":"publisher","first-page":"1276","DOI":"10.1523\/JNEUROSCI.23-04-01276.2003","article-title":"Neural dysfunction and neurodegeneration in Drosophila Na+\/K+ ATPase alpha subunit mutants","volume":"23","author":"Palladino","year":"2003","journal-title":"J. Neurosci."},{"key":"2021100608471931200_DMM048938C91","doi-asserted-by":"publisher","first-page":"3598","DOI":"10.1093\/brain\/awq295","article-title":"Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults","volume":"133","author":"Panagiotakaki","year":"2010","journal-title":"Brain"},{"key":"2021100608471931200_DMM048938C92","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\u2014a study of 155 patients","volume":"10","author":"Panagiotakaki","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"2021100608471931200_DMM048938C93","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1242\/dev.02710","article-title":"A pump-independent function of the Na,K-ATPase is required for epithelial junction function and tracheal tube-size control","volume":"134","author":"Paul","year":"2007","journal-title":"Development"},{"key":"2021100608471931200_DMM048938C94","doi-asserted-by":"publisher","first-page":"6530","DOI":"10.1016\/S0021-9258(19)44725-X","article-title":"Activation by adenosine triphosphate in the phosphorylation kinetics of sodium and potassium ion transport adenosine triphosphatase","volume":"247","author":"Post","year":"1972","journal-title":"J. Biol. Chem."},{"key":"2021100608471931200_DMM048938C95","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1016\/j.jns.2015.10.002","article-title":"CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation","volume":"358","author":"Potic","year":"2015","journal-title":"J. Neurol. Sci."},{"key":"2021100608471931200_DMM048938C96","doi-asserted-by":"publisher","first-page":"e466","DOI":"10.1212\/NXG.0000000000000466","article-title":"D-DEM\u00d8, a distinct phenotype caused by ATP1A3 mutations","volume":"6","author":"Prange","year":"2020","journal-title":"Neurol. Genet."},{"key":"2021100608471931200_DMM048938C97","doi-asserted-by":"publisher","first-page":"1211","DOI":"10.1101\/gr.186001","article-title":"The repertoire of Na,K-ATPase alpha and beta subunit genes expressed in the zebrafish, Danio rerio","volume":"11","author":"Rajarao","year":"2001","journal-title":"Genome Res."},{"key":"2021100608471931200_DMM048938C98","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":"2021100608471931200_DMM048938C99","doi-asserted-by":"publisher","first-page":"764","DOI":"10.1016\/S1474-4422(12)70182-5","article-title":"Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study","volume":"11","author":"Rosewich","year":"2012","journal-title":"Lancet Neurol."},{"key":"2021100608471931200_DMM048938C100","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/j.jns.2014.03.034","article-title":"A novel ATP1A3 mutation with unique clinical presentation","volume":"341","author":"Rosewich","year":"2014","journal-title":"J. Neurol. Sci."},{"key":"2021100608471931200_DMM048938C101","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":"2021100608471931200_DMM048938C102","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1212\/WNL.0000000000000735","article-title":"Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome","volume":"83","author":"Rosewich","year":"2014","journal-title":"Neurology"},{"key":"2021100608471931200_DMM048938C103","doi-asserted-by":"publisher","first-page":"448","DOI":"10.1016\/j.ejpn.2019.02.004","article-title":"Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3","volume":"23","author":"Sabouraud","year":"2019","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"2021100608471931200_DMM048938C104","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/S0887-8994(98)00016-2","article-title":"A case of alternating hemiplegia of childhood with cerebellar atrophy","volume":"19","author":"Saito","year":"1998","journal-title":"Pediatr. Neurol."},{"key":"2021100608471931200_DMM048938C105","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1016\/S0387-7604(01)00229-7","article-title":"Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan","volume":"23","author":"Sasaki","year":"2001","journal-title":"Brain Dev."},{"key":"2021100608471931200_DMM048938C106","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1016\/j.braindev.2008.03.008","article-title":"Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood","volume":"31","author":"Sasaki","year":"2009","journal-title":"Brain Dev."},{"key":"2021100608471931200_DMM048938C107","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1212\/WNL.0000000000000102","article-title":"Genotype\u2013phenotype correlations in alternating hemiplegia of childhood","volume":"82","author":"Sasaki","year":"2014","journal-title":"Neurology"},{"key":"2021100608471931200_DMM048938C108","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1002\/mdc3.12451","article-title":"Progressive brain atrophy in alternating hemiplegia of childhood","volume":"4","author":"Sasaki","year":"2017","journal-title":"Mov. Disord. Clin. Pract."},{"key":"2021100608471931200_DMM048938C109","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1016\/j.braindev.2018.01.002","article-title":"ATP1A3-related epileptic encephalopathy responding to ketogenic diet","volume":"40","author":"Schirinzi","year":"2018","journal-title":"Brain Dev."},{"key":"2021100608471931200_DMM048938C110","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":"2021100608471931200_DMM048938C111","doi-asserted-by":"publisher","first-page":"1300","DOI":"10.1007\/s00415-020-09698-3","article-title":"White matter and cerebellar involvement in alternating hemiplegia of childhood","volume":"267","author":"Severino","year":"2020","journal-title":"J. Neurol."},{"key":"2021100608471931200_DMM048938C112","doi-asserted-by":"publisher","first-page":"12952","DOI":"10.1073\/pnas.91.26.12952","article-title":"A putative fourth Na+,K(+)-ATPase alpha-subunit gene is expressed in testis","volume":"91","author":"Shamraj","year":"1994","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021100608471931200_DMM048938C113","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1016\/j.nbd.2018.03.009","article-title":"Direct evidence of impaired neuronal Na\/K-ATPase pump function in alternating hemiplegia of childhood","volume":"115","author":"Simmons","year":"2018","journal-title":"Neurobiol. Dis."},{"key":"2021100608471931200_DMM048938C114","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/j.pediatrneurol.2017.12.009","article-title":"Fever-induced paroxysmal weakness and encephalopathy (FIPWE)\u2014part of a phenotypic continuum in patients with ATP1A3 mutations?","volume":"81","author":"Sival","year":"2018","journal-title":"Pediatr. Neurol."},{"key":"2021100608471931200_DMM048938C115","doi-asserted-by":"publisher","first-page":"a001008","DOI":"10.1101\/mcs.a001008","article-title":"A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia","volume":"2","author":"Smedemark-Margulies","year":"2016","journal-title":"Mol. Case Stud."},{"key":"2021100608471931200_DMM048938C116","doi-asserted-by":"publisher","first-page":"e2023333118","DOI":"10.1073\/pnas.2023333118","article-title":"Early role for a Na+,K+-ATPase (ATP1A3) in brain development","volume":"118","author":"Smith","year":"2021","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021100608471931200_DMM048938C117","doi-asserted-by":"publisher","first-page":"e0167963","DOI":"10.1371\/journal.pone.0167963","article-title":"In vivo modelling of ATP1A3 G316S-induced ataxia in C. elegans using CRISPR\/Cas9-mediated homologous recombination reveals dominant loss of function defects","volume":"11","author":"Sorka\u00e7","year":"2016","journal-title":"PLoS ONE"},{"key":"2021100608471931200_DMM048938C118","doi-asserted-by":"publisher","first-page":"15012","DOI":"10.1038\/npjgenmed.2015.12","article-title":"Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine","volume":"1","author":"Stavropoulos","year":"2016","journal-title":"NPJ Genomic Med."},{"key":"2021100608471931200_DMM048938C119","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1186\/s40673-019-0096-3","article-title":"Fever-related ataxia: a case report of CAPOS syndrome","volume":"6","author":"Stenshorne","year":"2019","journal-title":"Cerebellum Ataxias"},{"key":"2021100608471931200_DMM048938C120","doi-asserted-by":"publisher","first-page":"e12435","DOI":"10.1111\/gbb.12435","article-title":"Atp1a3-deficient heterozygous mice show lower rank in the hierarchy and altered social behavior","volume":"17","author":"Sugimoto","year":"2018","journal-title":"Genes Brain Behav."},{"key":"2021100608471931200_DMM048938C121","doi-asserted-by":"publisher","first-page":"dmm032201","DOI":"10.1242\/dmm.032201","article-title":"A novel rabbit model of Duchenne muscular dystrophy generated by CRISPR\/Cas9","volume":"11","author":"Sui","year":"2018","journal-title":"Dis. Model Mech."},{"key":"2021100608471931200_DMM048938C122","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1016\/S1096-4959(01)00470-5","article-title":"In vivo modification of Na+,K+-ATPase activity in Drosophila","volume":"130","author":"Sun","year":"2001","journal-title":"Comp. Biochem. Physiol. B Biochem. Mol. Biol."},{"key":"2021100608471931200_DMM048938C123","doi-asserted-by":"publisher","first-page":"472","DOI":"10.1007\/s00415-009-5385-y","article-title":"Rapid-onset dystonia-parkinsonism: case report","volume":"257","author":"Svetel","year":"2010","journal-title":"J. Neurol."},{"key":"2021100608471931200_DMM048938C124","doi-asserted-by":"publisher","first-page":"e0151429","DOI":"10.1371\/journal.pone.0151429","article-title":"ATP1A3 mutation in adult rapid-onset ataxia","volume":"11","author":"Sweadner","year":"2016","journal-title":"PLoS ONE"},{"key":"2021100608471931200_DMM048938C125","doi-asserted-by":"publisher","first-page":"e303","DOI":"10.1212\/NXG.0000000000000303","article-title":"Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3","volume":"5","author":"Sweadner","year":"2019","journal-title":"Neurol. Genet."},{"key":"2021100608471931200_DMM048938C126","doi-asserted-by":"publisher","first-page":"e534","DOI":"10.1542\/peds.2008-2027","article-title":"Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome","volume":"123","author":"Sweney","year":"2009","journal-title":"Pediatrics"},{"key":"2021100608471931200_DMM048938C127","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1016\/j.pediatrneurol.2014.09.015","article-title":"The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, alternating hemiplegia of childhood, rapid-onset Dystonia-Parkinsonism, CAPOS and beyond","volume":"52","author":"Sweney","year":"2015","journal-title":"Pediatr. Neurol."},{"key":"2021100608471931200_DMM048938C128","doi-asserted-by":"publisher","first-page":"734","DOI":"10.1016\/j.celrep.2017.12.074","article-title":"Integrative analyses of de novo mutations provide deeper biological insights into autism spectrum disorder","volume":"22","author":"Takata","year":"2018","journal-title":"Cell Rep."},{"key":"2021100608471931200_DMM048938C129","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1186\/s13041-014-0089-3","article-title":"Genome-wide screen for modifiers of Na+\/K+ATPase alleles identifies critical genetic loci","volume":"7","author":"Talsma","year":"2014","journal-title":"Mol. Brain"},{"key":"2021100608471931200_DMM048938C130","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."},{"key":"2021100608471931200_DMM048938C131","doi-asserted-by":"publisher","first-page":"819","DOI":"10.1016\/j.ophtha.2011.10.011","article-title":"Clinical course, genetic etiology, and visual outcome in cone and cone\u2013rod dystrophy","volume":"119","author":"Thiadens","year":"2012","journal-title":"Ophthalmology"},{"key":"2021100608471931200_DMM048938C132","doi-asserted-by":"publisher","first-page":"827","DOI":"10.1016\/j.biopsych.2017.04.018","article-title":"Circadian disruptions in the Myshkin mouse model of mania are independent of deficits in suprachiasmatic molecular clock function","volume":"84","author":"Timothy","year":"2018","journal-title":"Biol. Psychiatry"},{"key":"2021100608471931200_DMM048938C133","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1016\/j.ymgmr.2018.06.001","article-title":"De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome","volume":"16","author":"Torres","year":"2018","journal-title":"Mol. Genet. Metab. Rep."},{"key":"2021100608471931200_DMM048938C134","doi-asserted-by":"publisher","first-page":"3186","DOI":"10.1074\/jbc.M113.543272","article-title":"Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease","volume":"289","author":"Toustrup-Jensen","year":"2014","journal-title":"J. Biol. Chem."},{"key":"2021100608471931200_DMM048938C135","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1007\/s00439-017-1862-z","article-title":"The CAPOS mutation in ATP1A3 alters Na\/K-ATPase function and results in auditory neuropathy which has implications for management","volume":"137","author":"Tranebj\u00e6rg","year":"2018","journal-title":"Hum. Genet."},{"key":"2021100608471931200_DMM048938C136","doi-asserted-by":"publisher","first-page":"e1248","DOI":"10.1212\/WNL.0000000000008159","article-title":"The epileptology of alternating hemiplegia of childhood","volume":"93","author":"Uchitel","year":"2019","journal-title":"Neurology"},{"key":"2021100608471931200_DMM048938C137","doi-asserted-by":"publisher","first-page":"820","DOI":"10.1111\/dmcn.14473","article-title":"Social impairments in alternating hemiplegia of childhood","volume":"62","author":"Uchitel","year":"2020","journal-title":"Dev. Med. Child Neurol."},{"key":"2021100608471931200_DMM048938C138","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":"2021100608471931200_DMM048938C139","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1542\/peds.47.4.675","article-title":"Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy","volume":"47","author":"Verret","year":"1971","journal-title":"Pediatrics"},{"key":"2021100608471931200_DMM048938C140","doi-asserted-by":"publisher","first-page":"1435","DOI":"10.1093\/brain\/awab052","article-title":"ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria","volume":"144","author":"Vetro","year":"2021","journal-title":"Brain"},{"key":"2021100608471931200_DMM048938C141","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":"2021100608471931200_DMM048938C142","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 BBA Mol. Basis Dis."},{"key":"2021100608471931200_DMM048938C143","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1007\/s00415-014-7547-9","article-title":"Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only","volume":"262","author":"Wilcox","year":"2015","journal-title":"J. Neurol."},{"key":"2021100608471931200_DMM048938C144","doi-asserted-by":"publisher","first-page":"20693","DOI":"10.1074\/jbc.M002323200","article-title":"Sperm motility is dependent on a unique isoform of the Na,K-ATPase","volume":"275","author":"Woo","year":"2000","journal-title":"J. Biol. Chem."},{"key":"2021100608471931200_DMM048938C145","doi-asserted-by":"publisher","first-page":"e97274","DOI":"10.1371\/journal.pone.0097274","article-title":"ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients","volume":"9","author":"Yang","year":"2014","journal-title":"PLoS ONE"},{"key":"2021100608471931200_DMM048938C146","first-page":"835","article-title":"[ATP1A3 gene mutations in patients with alternating hemiplegia of childhood]. Zhonghua Er Ke Za Zhi Chin","volume":"53","author":"Yang","year":"2015","journal-title":"J. Pediatr."},{"key":"2021100608471931200_DMM048938C147","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1016\/j.pediatrneurol.2017.04.022","article-title":"Fever-induced paroxysmal weakness and encephalopathy, a new phenotype of ATP1A3 mutation","volume":"73","author":"Yano","year":"2017","journal-title":"Pediatr. Neurol."},{"key":"2021100608471931200_DMM048938C148","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1073\/pnas.89.1.99","article-title":"The cardiac conduction system in the rat expresses the alpha 2 and alpha 3 isoforms of the Na+,K(+)-ATPase","volume":"89","author":"Zahler","year":"1992","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021100608471931200_DMM048938C149","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1016\/j.jns.2008.06.033","article-title":"[123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia\u2013parkinsonism","volume":"273","author":"Zanotti-Fregonara","year":"2008","journal-title":"J. Neurol. Sci."},{"key":"2021100608471931200_DMM048938C150","doi-asserted-by":"publisher","first-page":"1391","DOI":"10.1007\/s00439-020-02182-y","article-title":"ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy","volume":"139","author":"Zhou","year":"2020","journal-title":"Hum. Genet."}],"container-title":["Disease Models &amp; Mechanisms"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/journals.biologists.com\/dmm\/article-pdf\/doi\/10.1242\/dmm.048938\/2108132\/dmm048938.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/journals.biologists.com\/dmm\/article-pdf\/doi\/10.1242\/dmm.048938\/2108132\/dmm048938.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T05:16:29Z","timestamp":1673414189000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.biologists.com\/dmm\/article\/14\/10\/dmm048938\/272403\/Genetically-altered-animal-models-for-ATP1A3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,1]]},"references-count":150,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2021,10,1]]}},"URL":"https:\/\/doi.org\/10.1242\/dmm.048938","relation":{},"ISSN":["1754-8403","1754-8411"],"issn-type":[{"value":"1754-8403","type":"print"},{"value":"1754-8411","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,1]]},"article-number":"dmm048938"}}