{"id":"https://openalex.org/W2139639233","doi":"https://doi.org/10.1172/jci33891","title":"Sodium channel \u03b21 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans","display_name":"Sodium channel \u03b21 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans","publication_year":2008,"publication_date":"2008-05-06","ids":{"openalex":"https://openalex.org/W2139639233","doi":"https://doi.org/10.1172/jci33891","mag":"2139639233","pmid":"https://pubmed.ncbi.nlm.nih.gov/18464934","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2373423"},"language":"en","primary_location":{"id":"doi:10.1172/jci33891","doi":"https://doi.org/10.1172/jci33891","is_oa":false,"landing_page_url":"https://doi.org/10.1172/jci33891","pdf_url":null,"source":{"id":"https://openalex.org/S114430552","display_name":"Journal of Clinical Investigation","issn_l":"0021-9738","issn":["0021-9738","1558-8238"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320279","host_organization_name":"American Society for Clinical Investigation","host_organization_lineage":["https://openalex.org/P4310320279"],"host_organization_lineage_names":["American Society for Clinical Investigation"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Investigation","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2373423","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5071346122","display_name":"Hiroshi Watanabe","orcid":"https://orcid.org/0000-0001-9268-4144","observed_orcids":["https://orcid.org/0000-0001-9268-4144"]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]},{"id":"https://openalex.org/I71395657","display_name":"Niigata University","ror":"https://ror.org/04ww21r56","country_code":"JP","type":"education","lineage":["https://openalex.org/I71395657"]}],"countries":["JP","US"],"is_corresponding":false,"raw_author_name":"Hiroshi Watanabe","raw_affiliation_strings":["Department of Medicine and Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA","Niigata Univ, Niigata University, Grad Sch Med & Dent Sci, Div Cardiol","Vanderbilt Univ, Vanderbilt University, Sch Med, Dept Med & Pharmacol"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine and Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"Niigata Univ, Niigata University, Grad Sch Med & Dent Sci, Div Cardiol","institution_ids":["https://openalex.org/I71395657"]},{"raw_affiliation_string":"Vanderbilt Univ, Vanderbilt University, Sch Med, Dept Med & Pharmacol","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112326195","display_name":"Tamara T. Koopmann","orcid":"https://orcid.org/0000-0001-7918-6634","observed_orcids":["https://orcid.org/0000-0001-7918-6634","https://orcid.org/0009-0008-9632-6713"]},"institutions":[{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Tamara T. Koopmann","raw_affiliation_strings":["Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Expt Cardiol, Heart Failure Res Ctr"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Expt Cardiol, Heart Failure Res Ctr","institution_ids":["https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031197087","display_name":"Solena Le Scouarnec","orcid":"https://orcid.org/0000-0003-3444-2125","observed_orcids":["https://orcid.org/0000-0003-3444-2125"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I234216984","display_name":"Universit\u00e9 Nantes Angers Le Mans","ror":"https://ror.org/0406t3m57","country_code":"FR","type":"education","lineage":["https://openalex.org/I234216984"]},{"id":"https://openalex.org/I97188460","display_name":"Nantes Universit\u00e9","ror":"https://ror.org/03gnr7b55","country_code":"FR","type":"education","lineage":["https://openalex.org/I97188460"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Solena Le Scouarnec","raw_affiliation_strings":["CNRS, ERL3147","Inst Thorax, UMR915, INSERM","Univ Nantes, University of Nantes, University of Nantes Angers Le Mans"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CNRS, ERL3147","institution_ids":["https://openalex.org/I1294671590"]},{"raw_affiliation_string":"Inst Thorax, UMR915, INSERM","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"Univ Nantes, University of Nantes, University of Nantes Angers Le Mans","institution_ids":["https://openalex.org/I234216984","https://openalex.org/I97188460"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100780756","display_name":"Tao Yang","orcid":"https://orcid.org/0000-0003-1472-7051","observed_orcids":["https://orcid.org/0000-0003-1472-7051"]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tao Yang","raw_affiliation_strings":["Vanderbilt Univ, Vanderbilt University, Sch Med, Dept Med & Pharmacol"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Vanderbilt Univ, Vanderbilt University, Sch Med, Dept Med & Pharmacol","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071288130","display_name":"Christiana R. Ingram","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Christiana R. Ingram","raw_affiliation_strings":["Vanderbilt Univ, Vanderbilt University, Sch Med, Dept Med & Pharmacol"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Vanderbilt Univ, Vanderbilt University, Sch Med, Dept Med & Pharmacol","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031579548","display_name":"Jean\u2010Jacques Schott","orcid":"https://orcid.org/0000-0002-9578-9475","observed_orcids":["https://orcid.org/0000-0002-9578-9475","https://orcid.org/0000-0001-6731-8310"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jean-Jacques Schott","raw_affiliation_strings":["Inst Thorax, UMR915, INSERM"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inst Thorax, UMR915, INSERM","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076191067","display_name":"Sophie Demolombe","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I234216984","display_name":"Universit\u00e9 Nantes Angers Le Mans","ror":"https://ror.org/0406t3m57","country_code":"FR","type":"education","lineage":["https://openalex.org/I234216984"]},{"id":"https://openalex.org/I97188460","display_name":"Nantes Universit\u00e9","ror":"https://ror.org/03gnr7b55","country_code":"FR","type":"education","lineage":["https://openalex.org/I97188460"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sophie Demolombe","raw_affiliation_strings":["CNRS, ERL3147","Inst Thorax, UMR915, INSERM","Univ Nantes, University of Nantes, University of Nantes Angers Le Mans"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CNRS, ERL3147","institution_ids":["https://openalex.org/I1294671590"]},{"raw_affiliation_string":"Inst Thorax, UMR915, INSERM","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"Univ Nantes, University of Nantes, University of Nantes Angers Le Mans","institution_ids":["https://openalex.org/I234216984","https://openalex.org/I97188460"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001969191","display_name":"Vincent Probst","orcid":"https://orcid.org/0000-0002-5492-8619","observed_orcids":["https://orcid.org/0000-0002-5492-8619"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Vincent Probst","raw_affiliation_strings":["Inst Thorax, UMR915, INSERM"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inst Thorax, UMR915, INSERM","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043036813","display_name":"Fr\u00e9d\u00e9ric Anselme","orcid":"https://orcid.org/0000-0002-2130-9790","observed_orcids":["https://orcid.org/0000-0002-2130-9790"]},"institutions":[{"id":"https://openalex.org/I4210154623","display_name":"Centre Hospitalier Universitaire de Rouen","ror":"https://ror.org/04cdk4t75","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210154623"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Fr\u00e9d\u00e9ric Anselme","raw_affiliation_strings":["CHU Rouen, Dept Cardiol"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHU Rouen, Dept Cardiol","institution_ids":["https://openalex.org/I4210154623"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103423891","display_name":"Denis Escande","orcid":"https://orcid.org/0000-0002-0460-8385","observed_orcids":["https://orcid.org/0000-0002-0460-8385"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Denis Escande","raw_affiliation_strings":["Inst Thorax, UMR915, INSERM"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inst Thorax, UMR915, INSERM","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113784565","display_name":"Ans C.P. Wiesfeld","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1334415907","display_name":"University Medical Center Groningen","ror":"https://ror.org/03cv38k47","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I1334415907"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Ans C.P. Wiesfeld","raw_affiliation_strings":["Department of Cardiology, Thoraxcenter, University Medical Center Groningen, Groningen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, Thoraxcenter, University Medical Center Groningen, Groningen, The Netherlands","institution_ids":["https://openalex.org/I1334415907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015828408","display_name":"Arne Pfeufer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I62916508","display_name":"Technical University of Munich","ror":"https://ror.org/02kkvpp62","country_code":"DE","type":"education","lineage":["https://openalex.org/I62916508"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Arne Pfeufer","raw_affiliation_strings":["Tech Univ Munich, Technical University of Munich, Inst Humangenet"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Tech Univ Munich, Technical University of Munich, Inst Humangenet","institution_ids":["https://openalex.org/I62916508"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019224180","display_name":"Stefan K\u00e4\u00e4b","orcid":"https://orcid.org/0000-0001-8824-3581","observed_orcids":["https://orcid.org/0000-0001-8824-3581"]},"institutions":[{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Stefan K\u00e4\u00e4b","raw_affiliation_strings":["Univ Munich, University of Munich, Klinikum Grosshadern, Dept Med 1"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Univ Munich, University of Munich, Klinikum Grosshadern, Dept Med 1","institution_ids":["https://openalex.org/I8204097"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108482146","display_name":"H.\u2010Erich Wichmann","orcid":"https://orcid.org/0000-0002-1721-3796","observed_orcids":["https://orcid.org/0000-0002-1721-3796"]},"institutions":[{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"H.-Erich Wichmann","raw_affiliation_strings":["Univ Munich, University of Munich, Klinikum Grosshadern, Dept Med 1"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Univ Munich, University of Munich, Klinikum Grosshadern, Dept Med 1","institution_ids":["https://openalex.org/I8204097"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091171967","display_name":"Can Hasdemir","orcid":"https://orcid.org/0000-0002-4755-9165","observed_orcids":["https://orcid.org/0000-0002-4755-9165"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Can Hasdemir","raw_affiliation_strings":["Ege Univ, Ege University, Sch Med, Dept Cardiol"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ege Univ, Ege University, Sch Med, Dept Cardiol","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101776153","display_name":"Yoshifusa Aizawa","orcid":"https://orcid.org/0000-0003-2850-7906","observed_orcids":["https://orcid.org/0000-0003-2850-7906"]},"institutions":[{"id":"https://openalex.org/I71395657","display_name":"Niigata University","ror":"https://ror.org/04ww21r56","country_code":"JP","type":"education","lineage":["https://openalex.org/I71395657"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoshifusa Aizawa","raw_affiliation_strings":["Niigata Univ, Niigata University, Grad Sch Med & Dent Sci, Div Cardiol"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Niigata Univ, Niigata University, Grad Sch Med & Dent Sci, Div Cardiol","institution_ids":["https://openalex.org/I71395657"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002151074","display_name":"Arthur A.M. Wilde","orcid":"https://orcid.org/0000-0002-0528-0852","observed_orcids":["https://orcid.org/0000-0002-0528-0852","https://orcid.org/0000-0001-8924-9272"]},"institutions":[{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Arthur A.M. Wilde","raw_affiliation_strings":["Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Expt Cardiol, Heart Failure Res Ctr"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Expt Cardiol, Heart Failure Res Ctr","institution_ids":["https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058141203","display_name":"Dan M. Roden","orcid":"https://orcid.org/0000-0002-6302-0389","observed_orcids":["https://orcid.org/0000-0002-6302-0389"]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dan M. Roden","raw_affiliation_strings":["Vanderbilt Univ, Vanderbilt University, Sch Med, Dept Med & Pharmacol"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Vanderbilt Univ, Vanderbilt University, Sch Med, Dept Med & Pharmacol","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5016023161","display_name":"Connie R. Bezzina","orcid":"https://orcid.org/0000-0002-0633-3514","observed_orcids":["https://orcid.org/0000-0002-0633-3514"]},"institutions":[{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Connie R. Bezzina","raw_affiliation_strings":["Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Expt Cardiol, Heart Failure Res Ctr"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Univ Amsterdam, University of Amsterdam, Acad Med Ctr, Dept Expt Cardiol, Heart Failure Res Ctr","institution_ids":["https://openalex.org/I887064364"]}]}],"institutions":[],"countries_distinct_count":6,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5016023161"],"corresponding_institution_ids":["https://openalex.org/I887064364"],"apc_list":{"value":5200,"currency":"USD","value_usd":5200},"apc_paid":null,"fwci":32.0919,"has_fulltext":false,"cited_by_count":453,"citation_normalized_percentile":{"value":0.99778726,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":100},"biblio":{"volume":"118","issue":"6","first_page":"2260","last_page":"8"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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":0.0005000000237487257,"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"}},{"id":"https://openalex.org/T11922","display_name":"Cardiovascular Effects of Exercise","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"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/brugada-syndrome","display_name":"Brugada syndrome","score":0.996999979019165},{"id":"https://openalex.org/keywords/cardiac-conduction-disorders","display_name":"cardiac conduction disorders","score":0.9639999866485596},{"id":"https://openalex.org/keywords/scn1b","display_name":"SCN1B","score":0.8560000061988831},{"id":"https://openalex.org/keywords/sodium-channel-beta1-subunit","display_name":"sodium channel beta1 subunit","score":0.9779999852180481},{"id":"https://openalex.org/keywords/scn5a","display_name":"SCN5A","score":0.8009999990463257},{"id":"https://openalex.org/keywords/nav1-5","display_name":"cardiac sodium channel","score":0.9679999947547913},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.7009999752044678},{"id":"https://openalex.org/keywords/sudden-cardiac-death","display_name":"sudden cardiac death","score":0.8309999704360962},{"id":"https://openalex.org/keywords/ventricular-fibrillation","display_name":"ventricular fibrillation","score":0.8529999852180481},{"id":"https://openalex.org/keywords/st-segment-elevation","display_name":"ST-segment elevation","score":0.7269999980926514},{"id":"https://openalex.org/keywords/alternative-splicing","display_name":"alternative splicing","score":0.8650000095367432},{"id":"https://openalex.org/keywords/purkinje-fibers","display_name":"Purkinje fibers","score":0.9879999756813049},{"id":"https://openalex.org/keywords/sodium-current","display_name":"sodium current","score":0.7739999890327454},{"id":"https://openalex.org/keywords/arrhythmia-susceptibility","display_name":"arrhythmia susceptibility","score":0.8859999775886536}],"concepts":[{"id":"https://openalex.org/C2777382798","wikidata":"https://www.wikidata.org/wiki/Q599683","display_name":"Brugada syndrome","level":2,"score":0.958856463432312},{"id":"https://openalex.org/C50952357","wikidata":"https://www.wikidata.org/wiki/Q424960","display_name":"Sodium channel","level":3,"score":0.6506747007369995},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.5775269865989685},{"id":"https://openalex.org/C2775935837","wikidata":"https://www.wikidata.org/wiki/Q202837","display_name":"Sudden cardiac death","level":2,"score":0.5625557899475098},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5041528940200806},{"id":"https://openalex.org/C2993353509","wikidata":"https://www.wikidata.org/wiki/Q411867","display_name":"Sudden death","level":2,"score":0.4541492164134979},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.43552401661872864},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.43411874771118164},{"id":"https://openalex.org/C2781005686","wikidata":"https://www.wikidata.org/wiki/Q848662","display_name":"Ventricular fibrillation","level":2,"score":0.43223002552986145},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4275449216365814},{"id":"https://openalex.org/C104397207","wikidata":"https://www.wikidata.org/wiki/Q72711","display_name":"Electrical conduction system of the heart","level":3,"score":0.4133293628692627},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.39614322781562805},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.38956648111343384},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3361152410507202},{"id":"https://openalex.org/C2780040984","wikidata":"https://www.wikidata.org/wiki/Q79785","display_name":"Electrocardiography","level":2,"score":0.22269389033317566},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.21411475539207458},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.10223227739334106},{"id":"https://openalex.org/C537181965","wikidata":"https://www.wikidata.org/wiki/Q658","display_name":"Sodium","level":2,"score":0.05753505229949951},{"id":"https://openalex.org/C178790620","wikidata":"https://www.wikidata.org/wiki/Q11351","display_name":"Organic chemistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004594","descriptor_name":"Electrophysiology","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":"D006331","descriptor_name":"Heart Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008954","descriptor_name":"Models, Biological","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":"D009206","descriptor_name":"Myocardium","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011690","descriptor_name":"Purkinje Fibers","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D015222","descriptor_name":"Sodium Channels","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053840","descriptor_name":"Brugada Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D053840","descriptor_name":"Brugada Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D062547","descriptor_name":"Voltage-Gated Sodium Channel beta-1 Subunit","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":9,"locations":[{"id":"doi:10.1172/jci33891","doi":"https://doi.org/10.1172/jci33891","is_oa":false,"landing_page_url":"https://doi.org/10.1172/jci33891","pdf_url":null,"source":{"id":"https://openalex.org/S114430552","display_name":"Journal of Clinical Investigation","issn_l":"0021-9738","issn":["0021-9738","1558-8238"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320279","host_organization_name":"American Society for Clinical Investigation","host_organization_lineage":["https://openalex.org/P4310320279"],"host_organization_lineage_names":["American Society for Clinical Investigation"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Investigation","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:2373423","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2373423","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Clin Invest","raw_type":"Text"},{"id":"pmid:18464934","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18464934","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":"The Journal of clinical investigation","raw_type":"Journal Article"},{"id":"pmh:oai:pure.amsterdamumc.nl:openaire_cris_publications/6e0cea19-185c-4ddb-b95e-96fbe92159f8","doi":null,"is_oa":false,"landing_page_url":"https://pure.amsterdamumc.nl/en/publications/6e0cea19-185c-4ddb-b95e-96fbe92159f8","pdf_url":null,"source":{"id":"https://openalex.org/S7407055222","display_name":"Pure Amsterdam UMC","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Watanabe, H, Koopmann, T T, Le Scouarnec, S, Yang, T, Ingram, C R, Schott, J-J, Demolombe, S, Probst, V, Anselme, F, Escande, D, Wiesfeld, A C P, Pfeufer, A, K\u00e4\u00e4b, S, Wichmann, H -E, Hasdemir, C, Aizawa, Y, Wilde, A A M, Roden, D M & Bezzina, C R 2008, 'Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans', Journal of clinical investigation, vol. 118, no. 6, pp. 2260-2268. https://doi.org/10.1172/JC133891","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:amcpub:oai:pure.amc.nl:publications/0659251f-9d34-4f2b-b140-50e59d25d395","doi":null,"is_oa":false,"landing_page_url":"https://pure.amc.nl/en/publications/sodium-channel-beta1-subunit-mutations-associated-with-brugada-syndrome-and-cardiac-conduction-disease-in-humans(0659251f-9d34-4f2b-b140-50e59d25d395).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of clinical investigation, 118(6), 2260 - 2268. The American Society for Clinical Investigation","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:mediatum.ub.tum.de:node/737498","doi":null,"is_oa":false,"landing_page_url":"https://mediatum.ub.tum.de/737498","pdf_url":null,"source":{"id":"https://openalex.org/S4377196330","display_name":"mediaTUM  (Technical University of Munich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I62916508","host_organization_name":"Technical University of Munich","host_organization_lineage":["https://openalex.org/I62916508"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"article"},{"id":"pmh:oai:opus-zb.helmholtz-muenchen.de:2495","doi":null,"is_oa":false,"landing_page_url":"https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=2495","pdf_url":null,"source":{"id":"https://openalex.org/S4377196115","display_name":"Site cant be reached","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"J. Clin. Invest. 118, 2260-2268 (2008)","raw_type":null},{"id":"pmh:oai:pure.rug.nl:openaire_cris_publications/2c69ab82-d8d2-40f5-8955-a1f82e085cb6","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/11370/2c69ab82-d8d2-40f5-8955-a1f82e085cb6","pdf_url":null,"source":{"id":"https://openalex.org/S4306400420","display_name":"University of Groningen research database (University of Groningen / Centre for Information Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I169381384","host_organization_name":"University of Groningen","host_organization_lineage":["https://openalex.org/I169381384"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Watanabe, H, Koopmann, T T, Le Scouarnec, S, Yang, T, Ingram, C R, Schott, J-J, Demolombe, S, Probst, V, Anselme, F, Escande, D, Wiesfeld, A C P, Pfeufer, A, Kaeaeb, S, Wichmann, H -E, Hasdemir, C, Aizawa, Y, Wilde, A A M, Roden, D M & Bezzina, C R 2008, 'Sodium channel beta 1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans', The Journal of Clinical Investigation, vol. 118, no. 6, pp. 2260-2268. https://doi.org/10.1172/JC133891","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:rug:oai:pure.rug.nl:publications/2c69ab82-d8d2-40f5-8955-a1f82e085cb6","doi":null,"is_oa":false,"landing_page_url":"https://research.rug.nl/en/publications/2c69ab82-d8d2-40f5-8955-a1f82e085cb6","pdf_url":null,"source":{"id":"https://openalex.org/S4306400420","display_name":"University of Groningen research database (University of Groningen / Centre for Information Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I169381384","host_organization_name":"University of Groningen","host_organization_lineage":["https://openalex.org/I169381384"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"The Journal of Clinical Investigation, 118(6), 2260 - 2268. AMER SOC CLINICAL INVESTIGATION INC","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:2373423","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2373423","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Clin Invest","raw_type":"Text"},"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1124536103","display_name":null,"funder_award_id":"HL-65962","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G1452116402","display_name":"Pharmacogenomics of Arrhythmia Therapy","funder_award_id":"U19HL065962","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G1653287674","display_name":"Kompetenznetz Vorhofflimmern","funder_award_id":"01GI0204","funder_id":"https://openalex.org/F4320321114","funder_display_name":"Bundesministerium f\u00fcr Bildung und Forschung"},{"id":"https://openalex.org/G2819329773","display_name":"Verbundprojekt: Nationales Genomforschungsnetz 2 - Genomnetz Herz-Kreislauf, Standort M\u00fcnchen: Thema 1: Populationsgenetik kardiovaskul\u00e4rer Erkrankungen, Thema 2: Koordinierungs-B\u00fcro","funder_award_id":"01GS0499","funder_id":"https://openalex.org/F4320321114","funder_display_name":"Bundesministerium f\u00fcr Bildung und Forschung"},{"id":"https://openalex.org/G5555368638","display_name":"Verbundprojekt: Nationales Genomforschungsnetz - Kernbereich, Anteil GSF","funder_award_id":"01GR0103","funder_id":"https://openalex.org/F4320321114","funder_display_name":"Bundesministerium f\u00fcr Bildung und Forschung"},{"id":"https://openalex.org/G7285503057","display_name":"Pharmacogenomics of Arrhythmia Therapy","funder_award_id":"U01HL065962","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G8908322951","display_name":"Biology of Arrhythmia Susceptibility","funder_award_id":"P01HL046681","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G9000291397","display_name":null,"funder_award_id":"HL-65962","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320320883","display_name":"Agence Nationale de la Recherche","ror":"https://ror.org/00rbzpz17"},{"id":"https://openalex.org/F4320320890","display_name":"Fondation Leducq","ror":"https://ror.org/01czwga19"},{"id":"https://openalex.org/F4320321114","display_name":"Bundesministerium f\u00fcr Bildung und Forschung","ror":"https://ror.org/04pz7b180"},{"id":"https://openalex.org/F4320329149","display_name":"Szegedi Tudom\u00e1nyegyetem","ror":"https://ror.org/01pnej532"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":56,"referenced_works":["https://openalex.org/W1491803208","https://openalex.org/W1507105217","https://openalex.org/W1587507341","https://openalex.org/W1905378438","https://openalex.org/W1964258127","https://openalex.org/W1968876226","https://openalex.org/W1975793339","https://openalex.org/W1978761913","https://openalex.org/W1980378882","https://openalex.org/W1992058772","https://openalex.org/W1996825912","https://openalex.org/W1999486752","https://openalex.org/W2003659505","https://openalex.org/W2008125074","https://openalex.org/W2011385800","https://openalex.org/W2013880873","https://openalex.org/W2020145367","https://openalex.org/W2029399558","https://openalex.org/W2032030268","https://openalex.org/W2041397281","https://openalex.org/W2048832552","https://openalex.org/W2058279449","https://openalex.org/W2067320779","https://openalex.org/W2069638796","https://openalex.org/W2075795860","https://openalex.org/W2082952610","https://openalex.org/W2089861793","https://openalex.org/W2092435801","https://openalex.org/W2093214695","https://openalex.org/W2097308354","https://openalex.org/W2099195016","https://openalex.org/W2100078256","https://openalex.org/W2103665362","https://openalex.org/W2105498897","https://openalex.org/W2107277218","https://openalex.org/W2111029039","https://openalex.org/W2113897678","https://openalex.org/W2116051448","https://openalex.org/W2117221616","https://openalex.org/W2118426007","https://openalex.org/W2119023305","https://openalex.org/W2123623993","https://openalex.org/W2126236636","https://openalex.org/W2134831745","https://openalex.org/W2147699570","https://openalex.org/W2148036689","https://openalex.org/W2150145251","https://openalex.org/W2151329891","https://openalex.org/W2151973555","https://openalex.org/W2154237611","https://openalex.org/W2164126646","https://openalex.org/W2165605060","https://openalex.org/W2168377918","https://openalex.org/W2170828372","https://openalex.org/W2171411680","https://openalex.org/W2616249537"],"related_works":["https://openalex.org/W6922047281","https://openalex.org/W4234143622","https://openalex.org/W2011372401","https://openalex.org/W2120824553","https://openalex.org/W2148924835","https://openalex.org/W2484113338","https://openalex.org/W2149102733","https://openalex.org/W2749652130","https://openalex.org/W1988441324","https://openalex.org/W8930798"],"abstract_inverted_index":{"Brugada":[0,41,89],"syndrome":[1,42,90],"is":[2,12],"a":[3,121,145,190],"genetic":[4],"disease":[5,191],"associated":[6],"with":[7,58,88,95,109,156,171,182],"sudden":[8],"cardiac":[9,33,44],"death":[10],"that":[11,62],"characterized":[13],"by":[14],"ventricular":[15],"fibrillation":[16],"and":[17,43,91,131,141],"right":[18],"precordial":[19],"ST":[20],"segment":[21],"elevation":[22],"on":[23],"ECG.":[24],"Loss-of-function":[25],"mutations":[26,49,107,117],"in":[27,53,85,92,111,120,137,148,152],"SCN5A,":[28],"which":[29,77],"encodes":[30,78],"the":[31,54,79,129,138,157],"predominant":[32],"sodium":[34,81],"channel":[35,82],"alpha":[36],"subunit":[37],"NaV1.5,":[38],"can":[39,65],"cause":[40,66],"conduction":[45,96,161],"disease.":[46,162],"However,":[47],"SCN5A":[48,102],"are":[50],"not":[51],"detected":[52],"majority":[55],"of":[56,70,99,115,160],"patients":[57,94],"these":[59,71,116],"syndromes,":[60],"suggesting":[61],"other":[63],"genes":[64],"or":[67,174],"modify":[68],"presentation":[69,159],"disorders.":[72],"Here,":[73],"we":[74],"investigated":[75],"SCN1B,":[76],"function-modifying":[80],"beta1":[83,173],"subunit,":[84],"282":[86],"probands":[87],"44":[93],"disease,":[97],"none":[98],"whom":[100],"had":[101],"mutations.":[103],"We":[104],"identified":[105],"3":[106,112],"segregating":[108],"arrhythmia":[110,195],"kindreds.":[113],"Two":[114],"were":[118,135,142],"located":[119],"newly":[122],"described":[123],"alternately":[124,132],"processed":[125,133],"transcript,":[126],"beta1B.":[127],"Both":[128],"canonical":[130],"transcripts":[134],"expressed":[136,143],"human":[139,194],"heart":[140,153],"to":[144],"greater":[146],"degree":[147],"Purkinje":[149],"fibers":[150],"than":[151,177],"muscle,":[154],"consistent":[155],"clinical":[158],"Sodium":[163],"current":[164],"was":[165,169,180],"lower":[166],"when":[167,178],"NaV1.5":[168],"coexpressed":[170,181],"mutant":[172],"beta1B":[175],"subunits":[176],"it":[179],"WT":[183],"subunits.":[184],"These":[185],"findings":[186],"implicate":[187],"SCN1B":[188],"as":[189],"gene":[192],"for":[193],"susceptibility.":[196]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":9},{"year":2022,"cited_by_count":15},{"year":2021,"cited_by_count":18},{"year":2020,"cited_by_count":18},{"year":2019,"cited_by_count":13},{"year":2018,"cited_by_count":28},{"year":2017,"cited_by_count":24},{"year":2016,"cited_by_count":25},{"year":2015,"cited_by_count":32},{"year":2014,"cited_by_count":29},{"year":2013,"cited_by_count":42},{"year":2012,"cited_by_count":53}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}