{"id":"https://openalex.org/W3141346157","doi":"https://doi.org/10.3389/fneur.2021.637890","title":"ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum","display_name":"ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum","publication_year":2021,"publication_date":"2021-04-01","ids":{"openalex":"https://openalex.org/W3141346157","doi":"https://doi.org/10.3389/fneur.2021.637890","mag":"3141346157","pmid":"https://pubmed.ncbi.nlm.nih.gov/33868146","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/8047318"},"language":"en","primary_location":{"id":"doi:10.3389/fneur.2021.637890","doi":"https://doi.org/10.3389/fneur.2021.637890","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fneur.2021.637890","pdf_url":"https://www.frontiersin.org/articles/10.3389/fneur.2021.637890/pdf","source":{"id":"https://openalex.org/S96975567","display_name":"Frontiers in Neurology","issn_l":"1664-2295","issn":["1664-2295"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Neurology","raw_type":"journal-article"},"volume":null,"type":"review","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.frontiersin.org/articles/10.3389/fneur.2021.637890/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5027626119","display_name":"Philippe A. Salles","orcid":"https://orcid.org/0000-0002-8669-284X","observed_orcids":["https://orcid.org/0000-0002-8669-284X"]},"institutions":[{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Philippe A. Salles","raw_affiliation_strings":["Centro de Trastornos del Movimiento, Centro de Trastornos del Movimiento (CETRAM), Santiago, Chile","Department of Neurology and Center for Neurological Restoration, Neurological Institute, Cleveland Clinic, Cleveland, OH, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Trastornos del Movimiento, Centro de Trastornos del Movimiento (CETRAM), Santiago, Chile","institution_ids":[]},{"raw_affiliation_string":"Department of Neurology and Center for Neurological Restoration, Neurological Institute, Cleveland Clinic, Cleveland, OH, United States","institution_ids":["https://openalex.org/I1316902750"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041851834","display_name":"Ignacio Fernandez Mata","orcid":"https://orcid.org/0000-0003-1198-0633","observed_orcids":["https://orcid.org/0000-0003-1198-0633"]},"institutions":[{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]},{"id":"https://openalex.org/I4405287411","display_name":"Cleveland Clinic Research","ror":"https://ror.org/053229s83","country_code":"US","type":"facility","lineage":["https://openalex.org/I1316902750","https://openalex.org/I4405287411"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ignacio F. Mata","raw_affiliation_strings":["Cleveland Clinic Foundation, Genomic Medicine, Lerner Research Institute, Cleveland, OH, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cleveland Clinic Foundation, Genomic Medicine, Lerner Research Institute, Cleveland, OH, United States","institution_ids":["https://openalex.org/I1316902750","https://openalex.org/I4405287411"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009876207","display_name":"Tobias Br\u00fcnger","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Tobias Br\u00fcnger","raw_affiliation_strings":["Cologne Center for Genomics, University Cologne, Cologne, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cologne Center for Genomics, University Cologne, Cologne, Germany","institution_ids":["https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010212767","display_name":"Dennis Lal","orcid":"https://orcid.org/0000-0002-5173-9636","observed_orcids":["https://orcid.org/0000-0002-5173-9636"]},"institutions":[{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]},{"id":"https://openalex.org/I4405287411","display_name":"Cleveland Clinic Research","ror":"https://ror.org/053229s83","country_code":"US","type":"facility","lineage":["https://openalex.org/I1316902750","https://openalex.org/I4405287411"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dennis Lal","raw_affiliation_strings":["Cleveland Clinic Foundation, Genomic Medicine, Lerner Research Institute, Cleveland, OH, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cleveland Clinic Foundation, Genomic Medicine, Lerner Research Institute, Cleveland, OH, United States","institution_ids":["https://openalex.org/I1316902750","https://openalex.org/I4405287411"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5106857413","display_name":"Hubert H. Fernandez","orcid":"https://orcid.org/0000-0002-8553-5316","observed_orcids":["https://orcid.org/0000-0002-8553-5316"]},"institutions":[{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Hubert H. Fernandez","raw_affiliation_strings":["Department of Neurology and Center for Neurological Restoration, Neurological Institute, Cleveland Clinic, Cleveland, OH, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology and Center for Neurological Restoration, Neurological Institute, Cleveland Clinic, Cleveland, OH, United States","institution_ids":["https://openalex.org/I1316902750"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5106857413"],"corresponding_institution_ids":["https://openalex.org/I1316902750"],"apc_list":{"value":2950,"currency":"USD","value_usd":2950},"apc_paid":{"value":2950,"currency":"USD","value_usd":2950},"fwci":1.8915,"has_fulltext":true,"cited_by_count":75,"citation_normalized_percentile":{"value":0.88189533,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":96,"max":100},"biblio":{"volume":"12","issue":null,"first_page":"637890","last_page":"637890"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.5396000146865845,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.5396000146865845,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.07989999651908875,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.07590000331401825,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/atp1a3","display_name":"ATP1A3","score":0.9679999947547913},{"id":"https://openalex.org/keywords/na-k-atpase","display_name":"Na+/K+-ATPase","score":0.9190000295639038},{"id":"https://openalex.org/keywords/rapid-onset-dystonia-parkinsonism","display_name":"rapid-onset dystonia-parkinsonism","score":0.8240000009536743},{"id":"https://openalex.org/keywords/alternating-hemiplegia-of-childhood","display_name":"alternating hemiplegia of childhood","score":0.9990000128746033},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.6909999847412109},{"id":"https://openalex.org/keywords/clinical-spectrum","display_name":"clinical spectrum","score":0.5640000104904175},{"id":"https://openalex.org/keywords/phenotypic-heterogeneity","display_name":"phenotypic heterogeneity","score":0.7419999837875366},{"id":"https://openalex.org/keywords/central-nervous-system-neurons","display_name":"central nervous system neurons","score":0.6169999837875366}],"concepts":[{"id":"https://openalex.org/C2776525014","wikidata":"https://www.wikidata.org/wiki/Q1531991","display_name":"Parkinsonism","level":3,"score":0.6336972117424011},{"id":"https://openalex.org/C2780148635","wikidata":"https://www.wikidata.org/wiki/Q154709","display_name":"Cerebellar ataxia","level":3,"score":0.6176989078521729},{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.6170816421508789},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.5937829613685608},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5444605946540833},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5168112516403198},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.47250282764434814},{"id":"https://openalex.org/C2778117643","wikidata":"https://www.wikidata.org/wiki/Q1624054","display_name":"Pes cavus","level":3,"score":0.46274736523628235},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.41036257147789},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2798231244087219},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24820643663406372},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2319546937942505},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.22355911135673523},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.18416723608970642},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.1650085747241974},{"id":"https://openalex.org/C81182388","wikidata":"https://www.wikidata.org/wiki/Q353963","display_name":"Complication","level":2,"score":0.0}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.3389/fneur.2021.637890","doi":"https://doi.org/10.3389/fneur.2021.637890","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fneur.2021.637890","pdf_url":"https://www.frontiersin.org/articles/10.3389/fneur.2021.637890/pdf","source":{"id":"https://openalex.org/S96975567","display_name":"Frontiers in Neurology","issn_l":"1664-2295","issn":["1664-2295"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Neurology","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:8047318","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8047318","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Front Neurol","raw_type":"Text"},{"id":"pmid:33868146","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/33868146","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in neurology","raw_type":"Journal Article"},{"id":"pmh:oai:USBKOELN.ub.uni-koeln.de:58022","doi":null,"is_oa":false,"landing_page_url":"https://kups.ub.uni-koeln.de/58022/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400371","display_name":"K\u00f6lner Universit\u00e4ts PublikationsServer (Universit\u00e4t zu K\u00f6ln)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210115942","host_organization_name":"Rhenish Institute for Environmental Research","host_organization_lineage":["https://openalex.org/I4210115942"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"doc-type:article"},{"id":"pmh:oai:doaj.org/article:8e6d067cb3334cf59332c74e33f3fe30","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/8e6d067cb3334cf59332c74e33f3fe30","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Frontiers in Neurology, Vol 12 (2021)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.3389/fneur.2021.637890","doi":"https://doi.org/10.3389/fneur.2021.637890","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fneur.2021.637890","pdf_url":"https://www.frontiersin.org/articles/10.3389/fneur.2021.637890/pdf","source":{"id":"https://openalex.org/S96975567","display_name":"Frontiers in Neurology","issn_l":"1664-2295","issn":["1664-2295"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Neurology","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9537000060081482,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320308604","display_name":"Biogen","ror":"https://ror.org/02jqkb192"},{"id":"https://openalex.org/F4320311407","display_name":"Sunovion","ror":"https://ror.org/030zc7t66"},{"id":"https://openalex.org/F4320314164","display_name":"Parkinson's Foundation","ror":"https://ror.org/005aa3k38"},{"id":"https://openalex.org/F4320315053","display_name":"Acorda Therapeutics","ror":"https://ror.org/01788sq40"},{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"},{"id":"https://openalex.org/F4320321114","display_name":"Bundesministerium f\u00fcr Bildung und Forschung","ror":"https://ror.org/04pz7b180"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3141346157.pdf","grobid_xml":"https://content.openalex.org/works/W3141346157.grobid-xml"},"referenced_works_count":91,"referenced_works":["https://openalex.org/W1484098664","https://openalex.org/W1530855917","https://openalex.org/W1566134891","https://openalex.org/W1825064089","https://openalex.org/W1905863793","https://openalex.org/W1965731323","https://openalex.org/W1966970502","https://openalex.org/W1995443052","https://openalex.org/W1995659659","https://openalex.org/W1997949670","https://openalex.org/W2002678620","https://openalex.org/W2024728309","https://openalex.org/W2032851313","https://openalex.org/W2051921470","https://openalex.org/W2052772930","https://openalex.org/W2057990314","https://openalex.org/W2059156774","https://openalex.org/W2072020099","https://openalex.org/W2074394577","https://openalex.org/W2080752581","https://openalex.org/W2089665057","https://openalex.org/W2095186890","https://openalex.org/W2105326506","https://openalex.org/W2106439877","https://openalex.org/W2107872932","https://openalex.org/W2108214494","https://openalex.org/W2110657552","https://openalex.org/W2123053428","https://openalex.org/W2130223988","https://openalex.org/W2132608119","https://openalex.org/W2133940094","https://openalex.org/W2144354109","https://openalex.org/W2152624164","https://openalex.org/W2161888572","https://openalex.org/W2162589030","https://openalex.org/W2170995646","https://openalex.org/W2171419407","https://openalex.org/W2171869954","https://openalex.org/W2228924302","https://openalex.org/W2276139690","https://openalex.org/W2298700896","https://openalex.org/W2305908744","https://openalex.org/W2329899818","https://openalex.org/W2346595516","https://openalex.org/W2416859113","https://openalex.org/W2436364857","https://openalex.org/W2443703210","https://openalex.org/W2501893067","https://openalex.org/W2530550419","https://openalex.org/W2552956066","https://openalex.org/W2592921504","https://openalex.org/W2594018998","https://openalex.org/W2607905402","https://openalex.org/W2612286440","https://openalex.org/W2619027410","https://openalex.org/W2768561334","https://openalex.org/W2770408006","https://openalex.org/W2776859522","https://openalex.org/W2781578868","https://openalex.org/W2791941928","https://openalex.org/W2792014459","https://openalex.org/W2793367425","https://openalex.org/W2795639063","https://openalex.org/W2804745775","https://openalex.org/W2805955801","https://openalex.org/W2808524722","https://openalex.org/W2899818019","https://openalex.org/W2912033166","https://openalex.org/W2913125727","https://openalex.org/W2915837389","https://openalex.org/W2966251345","https://openalex.org/W2967351056","https://openalex.org/W2972283195","https://openalex.org/W2979184988","https://openalex.org/W2981149635","https://openalex.org/W3010428241","https://openalex.org/W3013038946","https://openalex.org/W3029661147","https://openalex.org/W3035847757","https://openalex.org/W3040410829","https://openalex.org/W3047184458","https://openalex.org/W3084085581","https://openalex.org/W3085313397","https://openalex.org/W3095866415","https://openalex.org/W3119900318","https://openalex.org/W3126793805","https://openalex.org/W3136918052","https://openalex.org/W4234714728","https://openalex.org/W4235812272","https://openalex.org/W4247852252","https://openalex.org/W6665005198"],"related_works":["https://openalex.org/W3162982265","https://openalex.org/W4403309942","https://openalex.org/W4324117104","https://openalex.org/W2346595516","https://openalex.org/W3085313397","https://openalex.org/W2793367425","https://openalex.org/W2133940094","https://openalex.org/W3136312111","https://openalex.org/W4416999010","https://openalex.org/W4365134833"],"abstract_inverted_index":{"The":[0,13,89],"Na+/K+":[1],"ATPases":[2],"are":[3,140],"Sodium-Potassium":[4],"exchanging":[5],"pumps,":[6],"with":[7,26,76,128],"a":[8,19,27,147,154],"heteromeric":[9],"\u03b1-\u03b2-\u03b3":[10],"protein":[11],"complex.":[12],"\u03b13":[14],"isoform":[15,38],"is":[16,39],"required":[17],"as":[18,146],"rescue":[20],"pump,":[21],"after":[22],"repeated":[23],"action":[24],"potentials,":[25],"distribution":[28],"predominantly":[29],"in":[30,47,53,56,64,72],"neurons":[31],"of":[32,61,102,125,137],"the":[33,42,57],"central":[34],"nervous":[35],"system.":[36],"This":[37],"encoded":[40],"by":[41,84],"ATP1A3":[43],"gene.":[44],"Pathogenic":[45],"variants":[46,63],"this":[48,65],"gene":[49,66],"have":[50,133],"been":[51,134],"implicated":[52],"several":[54],"phenotypes":[55],"last":[58],"decades.":[59],"Carriers":[60],"pathogenic":[62],"manifest":[67],"neurological":[68],"and":[69,80,112,130],"non-neurological":[70],"features":[71,132],"many":[73],"combinations,":[74],"usually":[75],"an":[77,122],"acute":[78],"onset":[79],"paroxysmal":[81],"episodes":[82],"triggered":[83],"fever":[85],"or":[86],"other":[87],"factors.":[88],"first":[90],"three":[91],"syndromes":[92],"described":[93],"were:":[94],"(1)":[95],"rapid-onset":[96],"dystonia":[97],"parkinsonism;":[98],"(2)":[99],"alternating":[100],"hemiplegia":[101],"childhood;":[103],"and,":[104],"(3)":[105],"cerebellar":[106],"ataxia,":[107],"pes":[108],"cavus,":[109],"optic":[110],"atrophy,":[111],"sensorineural":[113],"hearing":[114],"loss":[115],"(CAPOS":[116],"syndrome).":[117],"Since":[118],"their":[119],"original":[120],"description,":[121],"expanding":[123],"number":[124],"cases":[126],"presenting":[127],"atypical":[129],"overlapping":[131],"reported.":[135],"Because":[136],"this,":[138],"ATP1A3-disorders":[139],"now":[141],"beginning":[142],"to":[143],"be":[144],"viewed":[145],"phenotypic":[148],"continuum":[149],"representing":[150],"discrete":[151],"expressions":[152],"along":[153],"broadly":[155],"heterogeneous":[156],"clinical":[157],"spectrum.":[158]},"counts_by_year":[{"year":2026,"cited_by_count":14},{"year":2025,"cited_by_count":11},{"year":2024,"cited_by_count":20},{"year":2023,"cited_by_count":16},{"year":2022,"cited_by_count":9},{"year":2021,"cited_by_count":4}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2021-04-13T00:00:00"}