{"id":"https://openalex.org/W2918508142","doi":"https://doi.org/10.24875/bmhim.18000099","title":"Mutaci\u00f3n de novo recurrente en el gen ATP1A3 en una paciente mexicana con hemiplejia alternante de la infancia detectada por secuenciaci\u00f3n masiva en paralelo","display_name":"Mutaci\u00f3n de novo recurrente en el gen ATP1A3 en una paciente mexicana con hemiplejia alternante de la infancia detectada por secuenciaci\u00f3n masiva en paralelo","publication_year":2019,"publication_date":"2019-01-14","ids":{"openalex":"https://openalex.org/W2918508142","doi":"https://doi.org/10.24875/bmhim.18000099","mag":"2918508142","pmid":"https://pubmed.ncbi.nlm.nih.gov/30657467"},"language":"es","primary_location":{"id":"doi:10.24875/bmhim.18000099","doi":"https://doi.org/10.24875/bmhim.18000099","is_oa":true,"landing_page_url":"https://doi.org/10.24875/bmhim.18000099","pdf_url":"https://www.bmhim.com/files/bmhi_2019_1_49-53.pdf","source":{"id":"https://openalex.org/S2755767643","display_name":"Bolet\u00edn M\u00e9dico del Hospital Infantil de M\u00e9xico","issn_l":"0539-6115","issn":["0539-6115","1665-1146"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","poland-40","russia-white-list-3","scielo"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bolet\u00edn M\u00e9dico del Hospital Infantil de M\u00e9xico","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://www.bmhim.com/files/bmhi_2019_1_49-53.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5008179407","display_name":"Carolina I. Galaz-Montoya","orcid":"https://orcid.org/0000-0002-9180-8202","observed_orcids":["https://orcid.org/0000-0002-9180-8202"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Carolina I. Galaz-Montoya","raw_affiliation_strings":["Private practice, Hermosillo, Sonora, Mexico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Private practice, Hermosillo, Sonora, Mexico","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013906203","display_name":"Sof\u00eda Lizeth Alcar\u00e1z\u2010Estrada","orcid":"https://orcid.org/0000-0001-9144-9193","observed_orcids":["https://orcid.org/0000-0001-9144-9193"]},"institutions":[{"id":"https://openalex.org/I882076700","display_name":"Institute for Social Security and Services for State Workers","ror":"https://ror.org/02d93ae38","country_code":"MX","type":"government","lineage":["https://openalex.org/I882076700"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Sofia Alcaraz-Estrada","raw_affiliation_strings":["Division of Medical Genomics, Centro M\u00e9dico Nacional 20 de Noviembre, ISSSTE, Mexico City, Mexico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genomics, Centro M\u00e9dico Nacional 20 de Noviembre, ISSSTE, Mexico City, Mexico","institution_ids":["https://openalex.org/I882076700"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020908571","display_name":"Leopoldo A. Garc\u00eda\u2010Monta\u00f1o","orcid":"https://orcid.org/0000-0002-2972-7823","observed_orcids":["https://orcid.org/0000-0002-2972-7823"]},"institutions":[{"id":"https://openalex.org/I4210131026","display_name":"Institute of Ophthalmology","ror":"https://ror.org/036awca68","country_code":"MX","type":"nonprofit","lineage":["https://openalex.org/I4210131026"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Leopoldo A. Garc\u00eda-Monta\u00f1o","raw_affiliation_strings":["Research Unit in Genetics, Instituto de Oftalmolog\u00eda Conde de Valencia, Mexico City, Mexico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Unit in Genetics, Instituto de Oftalmolog\u00eda Conde de Valencia, Mexico City, Mexico","institution_ids":["https://openalex.org/I4210131026"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067403293","display_name":"Juan Carlos Zenteno","orcid":"https://orcid.org/0000-0002-9716-8146","observed_orcids":["https://orcid.org/0000-0002-9716-8146"]},"institutions":[{"id":"https://openalex.org/I4210131026","display_name":"Institute of Ophthalmology","ror":"https://ror.org/036awca68","country_code":"MX","type":"nonprofit","lineage":["https://openalex.org/I4210131026"]},{"id":"https://openalex.org/I8961855","display_name":"Universidad Nacional Aut\u00f3noma de M\u00e9xico","ror":"https://ror.org/01tmp8f25","country_code":"MX","type":"education","lineage":["https://openalex.org/I8961855"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Juan C. Zenteno","raw_affiliation_strings":["Department of Biochemistry, Facultad de Medicina, Universidad Nacional Aut\u00f3noma de Mexico, Mexico City, Mexico","Research Unit in Genetics, Instituto de Oftalmolog\u00eda Conde de Valencia, Mexico City, Mexico","Universidad Nacional Aut\u00f3noma de Mexico, M\u00e9xico, Mexico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, Facultad de Medicina, Universidad Nacional Aut\u00f3noma de Mexico, Mexico City, Mexico","institution_ids":["https://openalex.org/I8961855"]},{"raw_affiliation_string":"Research Unit in Genetics, Instituto de Oftalmolog\u00eda Conde de Valencia, Mexico City, Mexico","institution_ids":["https://openalex.org/I4210131026"]},{"raw_affiliation_string":"Universidad Nacional Aut\u00f3noma de Mexico, M\u00e9xico, Mexico","institution_ids":["https://openalex.org/I8961855"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5041493308","display_name":"Raul Eduardo Pi\u00f1a-Aguilar","orcid":"https://orcid.org/0000-0002-2043-4282","observed_orcids":["https://orcid.org/0000-0002-2043-4282"]},"institutions":[{"id":"https://openalex.org/I195460627","display_name":"University of Aberdeen","ror":"https://ror.org/016476m91","country_code":"GB","type":"education","lineage":["https://openalex.org/I195460627"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Ra\u00fal Pi\u00f1a-Aguilar","raw_affiliation_strings":["School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, United Kingdom","institution_ids":["https://openalex.org/I195460627"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.2574,"has_fulltext":true,"cited_by_count":4,"citation_normalized_percentile":{"value":0.50839932,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"76","issue":"1","first_page":"49","last_page":"53"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.423799991607666,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.423799991607666,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.23010000586509705,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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"}},{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.1476999968290329,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/alternating-hemiplegia-of-childhood","display_name":"alternating hemiplegia of childhood","score":0.9990000128746033},{"id":"https://openalex.org/keywords/atp1a3","display_name":"ATP1A3","score":0.9860000014305115},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.6759999990463257},{"id":"https://openalex.org/keywords/recurrent-mutations","display_name":"recurrent mutations","score":0.7429999709129333},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8130000233650208},{"id":"https://openalex.org/keywords/pediatric-movement-disorders","display_name":"pediatric movement disorders","score":0.9290000200271606},{"id":"https://openalex.org/keywords/hyperammonemia","display_name":"hyperammonemia","score":0.8949999809265137},{"id":"https://openalex.org/keywords/organic-aciduria","display_name":"organic aciduria","score":0.8999999761581421},{"id":"https://openalex.org/keywords/targeted-panel-sequencing","display_name":"targeted panel sequencing","score":0.7369999885559082},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.5509999990463257}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5073441863059998},{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.4940929710865021},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4704902172088623},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.4563830494880676},{"id":"https://openalex.org/C2778261627","wikidata":"https://www.wikidata.org/wiki/Q2608695","display_name":"Movement disorders","level":3,"score":0.4399653971195221},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.2271711826324463},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.19197896122932434},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.18868416547775269},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.15537810325622559},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1421373188495636},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11992388963699341},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000254","descriptor_name":"Sodium-Potassium-Exchanging ATPase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006429","descriptor_name":"Hemiplegia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D006429","descriptor_name":"Hemiplegia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006429","descriptor_name":"Hemiplegia","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008800","descriptor_name":"Mexico","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.24875/bmhim.18000099","doi":"https://doi.org/10.24875/bmhim.18000099","is_oa":true,"landing_page_url":"https://doi.org/10.24875/bmhim.18000099","pdf_url":"https://www.bmhim.com/files/bmhi_2019_1_49-53.pdf","source":{"id":"https://openalex.org/S2755767643","display_name":"Bolet\u00edn M\u00e9dico del Hospital Infantil de M\u00e9xico","issn_l":"0539-6115","issn":["0539-6115","1665-1146"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","poland-40","russia-white-list-3","scielo"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bolet\u00edn M\u00e9dico del Hospital Infantil de M\u00e9xico","raw_type":"journal-article"},{"id":"pmid:30657467","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30657467","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":"Boletin medico del Hospital Infantil de Mexico","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.24875/bmhim.18000099","doi":"https://doi.org/10.24875/bmhim.18000099","is_oa":true,"landing_page_url":"https://doi.org/10.24875/bmhim.18000099","pdf_url":"https://www.bmhim.com/files/bmhi_2019_1_49-53.pdf","source":{"id":"https://openalex.org/S2755767643","display_name":"Bolet\u00edn M\u00e9dico del Hospital Infantil de M\u00e9xico","issn_l":"0539-6115","issn":["0539-6115","1665-1146"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","poland-40","russia-white-list-3","scielo"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bolet\u00edn M\u00e9dico del Hospital Infantil de M\u00e9xico","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9922999739646912}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2918508142.pdf","grobid_xml":"https://content.openalex.org/works/W2918508142.grobid-xml"},"referenced_works_count":11,"referenced_works":["https://openalex.org/W1984068087","https://openalex.org/W2059676269","https://openalex.org/W2074394577","https://openalex.org/W2088801383","https://openalex.org/W2110657552","https://openalex.org/W2132608119","https://openalex.org/W2133940094","https://openalex.org/W2436364857","https://openalex.org/W2603316957","https://openalex.org/W2770026599","https://openalex.org/W2789973567"],"related_works":["https://openalex.org/W4230283126","https://openalex.org/W2152624164","https://openalex.org/W4407067090","https://openalex.org/W3029654742","https://openalex.org/W2232762228","https://openalex.org/W2320468694","https://openalex.org/W4213229858","https://openalex.org/W4309547732","https://openalex.org/W2106658369","https://openalex.org/W1985418985"],"abstract_inverted_index":{"Background:":[0],"Pediatric":[1],"movement":[2,48,71,165,205],"disorders":[3,206,212],"represent":[4],"a":[5,67,70,77,92,123,164,171,189],"diagnostic":[6],"challenge":[7],"for":[8,35],"pediatricians":[9],"and":[10,19,32,56,91,170,207,213],"pediatric":[11,47],"neurologists":[12],"due":[13],"to":[14,84,121,184,202],"their":[15],"high":[16],"clinical":[17,101],"heterogeneity":[18],"shared":[20],"common":[21,214],"features.":[22],"Therefore,":[23],"specific":[24,33],"diagnoses":[25],"require":[26],"different":[27],"approaches":[28],"including":[29],"metabolic":[30,211],"work-up":[31],"tests":[34],"frequent":[36],"genetic":[37],"conditions.":[38],"Alternating":[39],"hemiplegia":[40,152],"of":[41,66,89,108,135,153,179],"childhood":[42,154],"(AHC)":[43],"is":[44,158],"an":[45,105,159],"ultra-rare":[46,160],"disorder,":[49],"characterized":[50],"by":[51],"paroxysmal":[52],"alternating":[53,151],"hemiplegia,":[54],"dystonia,":[55],"seizure-like":[57,168],"episodes":[58,169],"that":[59],"can":[60],"be":[61,177],"misleading":[62],"during":[63],"the":[64,85,199],"evaluation":[65],"child":[68],"with":[69,80,104,115,167],"disorder.":[72],"Case":[73],"report:":[74],"We":[75],"present":[76],"Mexican":[78],"patient":[79],"abnormal":[81],"movements":[82],"referred":[83],"Genetics":[86],"clinic":[87],"because":[88],"hyperammonemia":[90],"possible":[93],"organic":[94],"acidemia.":[95],"Our":[96],"assessment":[97],"did":[98],"not":[99],"find":[100],"features":[102],"compatible":[103],"inborn":[106],"error":[107],"metabolism.":[109],"A":[110,126],"massively":[111],"parallel":[112,193],"sequencing":[113,118,194],"approach":[114,201],"targeted":[116],"panel":[117],"was":[119,138],"used":[120],"get":[122],"final":[124],"diagnosis.":[125],"missense":[127],"variant":[128,141],"c.2839G>A":[129],"(p.Gly947Arg)":[130],"located":[131],"at":[132],"exon":[133],"21":[134],"ATP1A3":[136],"gene":[137],"demonstrated.":[139],"This":[140],"(rs398122887)":[142],"has":[143],"been":[144],"previously":[145],"reported":[146],"as":[147,163,198],"de":[148],"novo":[149],"producing":[150],"(AHC).":[155],"Conclusions:":[156],"AHC":[157],"syndrome":[161],"presented":[162],"disorder":[166],"unique":[172],"facial":[173],"phenotype.":[174],"Clinicians":[175],"should":[176],"aware":[178],"this":[180,186],"combination":[181],"in":[182,188],"order":[183],"diagnose":[185,203],"condition":[187],"timely":[190],"manner.":[191],"Massive":[192],"panels":[195],"are":[196],"emerging":[197],"best":[200],"rare":[204],"simultaneously":[208],"rule":[209],"out":[210],"epileptic":[215],"syndromes.":[216]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2019,"cited_by_count":2}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2019-03-11T00:00:00"}
