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Na\n                    <jats:sup>+<\/jats:sup>\n                    ,K\n                    <jats:sup>+<\/jats:sup>\n                    \u2010ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function. The present review aimed to systematically identify and organize published data on Na\n                    <jats:sup>+<\/jats:sup>\n                    ,K\n                    <jats:sup>+<\/jats:sup>\n                    \u2010ATPase variants reported in human studies with neurological outcomes, compiling this information into a structured format. Variants in the\n                    <jats:italic>ATP1A1<\/jats:italic>\n                    (\u03b11) gene are associated with epilepsy, developmental delay, autism spectrum disorder, and Charcot\u2013Marie\u2013Tooth disease (CMT). Variants in the\n                    <jats:italic>ATP1A2<\/jats:italic>\n                    (\u03b12) gene are mainly associated with familial hemiplegic migraine type 2 (FHM2) and sporadic hemiplegic migraine (SHM), and epilepsy. Moreover, severe neurodevelopmental phenotypes such as polymicrogyria and microcephaly arise from biallelic\n                    <jats:italic>ATP1A2<\/jats:italic>\n                    loss\u2010of\u2010function variants.\n                    <jats:italic>ATP1A3<\/jats:italic>\n                    (\u03b13) variants present the broadest phenotypic diversity, including alternating hemiplegia of childhood (AHC), rapid\u2010onset dystonia\u2010parkinsonism (RDP), cerebellar ataxia, childhood\u2010onset schizophrenia, and cerebellar ataxia, areflexia, pes cavus, optic nerve atrophy, and sensorineural deafness (CAPOS) syndrome. Furthermore, the Gly41Arg variant in the\n                    <jats:italic>FXYD2<\/jats:italic>\n                    gene is implicated in isolated dominant hypomagnesemia (IDH) with possible neurological manifestations. The structured compilation presented here consolidates data from 61 studies and covers 123 distinct variants across four Na\n                    <jats:sup>+<\/jats:sup>\n                    ,K\n                    <jats:sup>+<\/jats:sup>\n                    \u2010ATPase subunits, providing an annotated reference that may help future research.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.b.70035","type":"journal-article","created":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T07:17:21Z","timestamp":1789975041000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Variants of Na\n                    <sup>+<\/sup>\n                    ,K\n                    <sup>+<\/sup>\n                    \u2010\n                    <scp>ATPase<\/scp>\n                    Associated With Neurological Disorders: A Systematic Review"],"prefix":"10.1002","author":[{"given":"Giovana Kummer","family":"da Rosa","sequence":"first","affiliation":[{"name":"Graduate Program in Pharmacology, Federal University of Santa Maria  Santa Maria Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leandro Rodrigo","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Graduate Program in Pharmacology, Federal University of Santa Maria  Santa Maria Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9ssica Lorena","family":"Bariviera","sequence":"additional","affiliation":[{"name":"Graduate Program in Pharmacology, Federal University of Santa Maria  Santa Maria Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5381-1208","authenticated-orcid":false,"given":"Mauro Schneider","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Graduate Program in Pharmacology, Federal University of Santa Maria  Santa Maria Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,21]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1212\/WNL.0b013e3182074c2f","article-title":"Na+, K+\u2010ATPase: Functions in the Nervous System and Involvement in Neurologic Disease","volume":"76","author":"Benarroch E. E.","year":"2011","journal-title":"Neurology"},{"key":"e_1_2_10_3_1","doi-asserted-by":"crossref","first-page":"C394","DOI":"10.1152\/ajpcell.00059.2021","article-title":"Diseases Caused by Mutations in the Na \u00fe \/K \u00fe Pump a1 Gene ATP1A1","volume":"321","author":"Biondo E. D.","year":"2021","journal-title":"American Journal of Physiology. Cell Physiology"},{"key":"e_1_2_10_4_1","doi-asserted-by":"crossref","first-page":"2370","DOI":"10.1093\/hmg\/ddp170","article-title":"A C\u2010Terminal Mutation of ATP1A3 Underscores the Crucial Role of Sodium Affinity in the Pathophysiology of Rapid\u2010Onset Dystonia\u2010Parkinsonism","volume":"18","author":"Blanco\u2010Arias P.","year":"2009","journal-title":"Human Molecular Genetics"},{"key":"e_1_2_10_5_1","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1002\/aur.2002","article-title":"Na+, K+\u2010ATPase Activity in Children With Autism Spectrum Disorder: Searching for the Reason(s) of Its Decrease in Blood Cells","volume":"11","author":"Bolotta A.","year":"2018","journal-title":"Autism Research"},{"key":"e_1_2_10_6_1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.ejpn.2021.01.004","article-title":"A Novel ATP1A2 Variant Associated With Severe Stepwise Regression, Hemiplegia, Epilepsy and Movement Disorders in Two Unrelated Patients","volume":"31","author":"Calame D. 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