{"id":"https://openalex.org/W1976320686","doi":"https://doi.org/10.1371/journal.pone.0095579","title":"Rare Mutations of CACNB2 Found in Autism Spectrum Disease-Affected Families Alter Calcium Channel Function","display_name":"Rare Mutations of CACNB2 Found in Autism Spectrum Disease-Affected Families Alter Calcium Channel Function","publication_year":2014,"publication_date":"2014-04-21","ids":{"openalex":"https://openalex.org/W1976320686","doi":"https://doi.org/10.1371/journal.pone.0095579","mag":"1976320686","pmid":"https://pubmed.ncbi.nlm.nih.gov/24752249","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3994086"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pone.0095579","doi":"https://doi.org/10.1371/journal.pone.0095579","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0095579","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0095579&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS ONE","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0095579&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5044574295","display_name":"Alexandra F. Breitenkamp","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":"Alexandra F. S. Breitenkamp","raw_affiliation_strings":["Department of Pharmacology, University of Cologne, Cologne, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology, University of Cologne, Cologne, Germany","institution_ids":["https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007578013","display_name":"Jan Matthes","orcid":"https://orcid.org/0000-0003-2754-1555","observed_orcids":["https://orcid.org/0000-0003-2754-1555"]},"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":"Jan Matthes","raw_affiliation_strings":["Department of Pharmacology, University of Cologne, Cologne, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology, University of Cologne, Cologne, Germany","institution_ids":["https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047980573","display_name":"Robert D. Nass","orcid":"https://orcid.org/0000-0003-4446-8898","observed_orcids":["https://orcid.org/0000-0003-4446-8898"]},"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":"Robert Daniel Nass","raw_affiliation_strings":["Department of Pharmacology, University of Cologne, Cologne, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology, University of Cologne, Cologne, Germany","institution_ids":["https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087305199","display_name":"Judith Sinzig","orcid":"https://orcid.org/0000-0002-3693-3318","observed_orcids":["https://orcid.org/0000-0002-3693-3318"]},"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"]},{"id":"https://openalex.org/I4210136045","display_name":"LVR-Klinik Bonn","ror":"https://ror.org/04h616z85","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210136045"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Judith Sinzig","raw_affiliation_strings":["Department of Child and Adolescent Psychiatry and Psychotherapy, LVR-Klinik Bonn, Bonn, Germany; Department of Child and Adolescent Psychiatry and Psychotherapy, University of Cologne, Cologne, Germany","Department of Child and Adolescent Psychiatry and Psychotherapy, LVR-Klinik Bonn, Bonn, Germany","Department of Child and Adolescent Psychiatry and Psychotherapy, University of Cologne, Cologne, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Child and Adolescent Psychiatry and Psychotherapy, LVR-Klinik Bonn, Bonn, Germany; Department of Child and Adolescent Psychiatry and Psychotherapy, University of Cologne, Cologne, Germany","institution_ids":["https://openalex.org/I180923762","https://openalex.org/I4210136045"]},{"raw_affiliation_string":"Department of Child and Adolescent Psychiatry and Psychotherapy, LVR-Klinik Bonn, Bonn, Germany","institution_ids":["https://openalex.org/I4210136045"]},{"raw_affiliation_string":"Department of Child and Adolescent Psychiatry and Psychotherapy, University of Cologne, Cologne, Germany","institution_ids":["https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089791563","display_name":"Gerd Lehmkuhl","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":"Gerd Lehmkuhl","raw_affiliation_strings":["Department of Child and Adolescent Psychiatry and Psychotherapy, University of Cologne, Cologne, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Child and Adolescent Psychiatry and Psychotherapy, University of Cologne, Cologne, Germany","institution_ids":["https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078248666","display_name":"Peter N\u00fcrnberg","orcid":"https://orcid.org/0000-0002-7228-428X","observed_orcids":["https://orcid.org/0000-0002-7228-428X"]},"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":"Peter N\u00fcrnberg","raw_affiliation_strings":["Cologne Center for Genomics, University of Cologne, Cologne, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cologne Center for Genomics, University of Cologne, Cologne, Germany","institution_ids":["https://openalex.org/I180923762"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5034348858","display_name":"Stefan Herzig","orcid":"https://orcid.org/0000-0001-8107-5204","observed_orcids":["https://orcid.org/0000-0001-8107-5204"]},"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":true,"raw_author_name":"Stefan Herzig","raw_affiliation_strings":["Department of Pharmacology, University of Cologne, Cologne, Germany; Center for Molecular Medicine, University of Cologne, Cologne, Germany","Center for Molecular Medicine, University of Cologne, Cologne, Germany","Department of Pharmacology, University of Cologne, Cologne, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology, University of Cologne, Cologne, Germany; Center for Molecular Medicine, University of Cologne, Cologne, Germany","institution_ids":["https://openalex.org/I180923762"]},{"raw_affiliation_string":"Center for Molecular Medicine, University of Cologne, Cologne, Germany","institution_ids":["https://openalex.org/I180923762"]},{"raw_affiliation_string":"Department of Pharmacology, University of Cologne, Cologne, Germany","institution_ids":["https://openalex.org/I180923762"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5034348858"],"corresponding_institution_ids":["https://openalex.org/I180923762"],"apc_list":{"value":2382,"currency":"USD","value_usd":2382},"apc_paid":{"value":2382,"currency":"USD","value_usd":2382},"fwci":1.6523,"has_fulltext":true,"cited_by_count":53,"citation_normalized_percentile":{"value":0.8308141,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"9","issue":"4","first_page":"e95579","last_page":"e95579"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.7949000000953674,"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"}},"topics":[{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.7949000000953674,"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/T10106","display_name":"Autism Spectrum Disorder Research","score":0.14249999821186066,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive 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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.026200000196695328,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/cacnb2","display_name":"CACNB2","score":0.9169999957084656},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.9200000166893005},{"id":"https://openalex.org/keywords/l-type-calcium-channels","display_name":"L-type calcium channels","score":0.9259999990463257},{"id":"https://openalex.org/keywords/calcium-homeostasis","display_name":"calcium homeostasis","score":0.8669999837875366},{"id":"https://openalex.org/keywords/barium-currents","display_name":"barium currents","score":0.8059999942779541},{"id":"https://openalex.org/keywords/time-dependent-inactivation","display_name":"time-dependent inactivation","score":0.8169999718666077},{"id":"https://openalex.org/keywords/voltage-dependent-inactivation","display_name":"voltage-dependent inactivation","score":0.9409999847412109},{"id":"https://openalex.org/keywords/cacna1c","display_name":"CACNA1C","score":0.8939999938011169},{"id":"https://openalex.org/keywords/timothy-syndrome","display_name":"Timothy syndrome","score":0.984000027179718},{"id":"https://openalex.org/keywords/susceptibility-loci","display_name":"genetic susceptibility loci","score":0.6769999861717224}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8782806396484375},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6067599058151245},{"id":"https://openalex.org/C2778538070","wikidata":"https://www.wikidata.org/wiki/Q1436063","display_name":"Autism spectrum disorder","level":3,"score":0.5793502330780029},{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.5638628005981445},{"id":"https://openalex.org/C2779388368","wikidata":"https://www.wikidata.org/wiki/Q3450985","display_name":"Neurodevelopmental disorder","level":3,"score":0.5425376296043396},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5289373993873596},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5209628343582153},{"id":"https://openalex.org/C85520022","wikidata":"https://www.wikidata.org/wiki/Q15322916","display_name":"Calcium channel","level":3,"score":0.481076717376709},{"id":"https://openalex.org/C174510640","wikidata":"https://www.wikidata.org/wiki/Q489618","display_name":"HEK 293 cells","level":3,"score":0.43545085191726685},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4007679224014282},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.26763486862182617},{"id":"https://openalex.org/C519063684","wikidata":"https://www.wikidata.org/wiki/Q706","display_name":"Calcium","level":2,"score":0.23559239506721497},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.17849606275558472},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.07897329330444336}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002659","descriptor_name":"Child Development Disorders, Pervasive","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002659","descriptor_name":"Child Development Disorders, Pervasive","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D005190","descriptor_name":"Family","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D013997","descriptor_name":"Time Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015640","descriptor_name":"Ion Channel Gating","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020746","descriptor_name":"Calcium Channels, L-Type","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020746","descriptor_name":"Calcium Channels, L-Type","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D057809","descriptor_name":"HEK293 Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":8,"locations":[{"id":"doi:10.1371/journal.pone.0095579","doi":"https://doi.org/10.1371/journal.pone.0095579","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0095579","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0095579&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS ONE","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:2976514","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3994086","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"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":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3994086","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3994086","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":"PLoS One","raw_type":"Text"},{"id":"pmid:24752249","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24752249","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":"PloS one","raw_type":"Journal Article"},{"id":"pmh:oai:USBKOELN.ub.uni-koeln.de:44054","doi":null,"is_oa":false,"landing_page_url":"https://kups.ub.uni-koeln.de/44054/","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:CiteSeerX.psu:10.1.1.795.737","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.795.737","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/eb/c8/pone.0095579.PMC3994086.pdf","raw_type":"text"},{"id":"pmh:oai:doaj.org/article:7a9cdf630a644d26a6e1960649af9da0","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/7a9cdf630a644d26a6e1960649af9da0","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS ONE, Vol 9, Iss 4, p e95579 (2014)","raw_type":"article"},{"id":"pmh:oai:figshare.com:article/1072961","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Rare_Mutations_of_CACNB2_Found_in_Autism_Spectrum_Disease_Affected_Families_Alter_Calcium_Channel_Function/1072961","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Dataset"}],"best_oa_location":{"id":"doi:10.1371/journal.pone.0095579","doi":"https://doi.org/10.1371/journal.pone.0095579","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0095579","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0095579&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS ONE","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8999999761581421,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2290001615","display_name":"Center for Genomic and Phenomic Studies in Autism","funder_award_id":"U24MH081810","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"}],"funders":[{"id":"https://openalex.org/F4320306097","display_name":"Autism Speaks","ror":"https://ror.org/04bkad313"},{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"},{"id":"https://openalex.org/F4320325530","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02"},{"id":"https://openalex.org/F4320337346","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1976320686.pdf","grobid_xml":"https://content.openalex.org/works/W1976320686.grobid-xml"},"referenced_works_count":47,"referenced_works":["https://openalex.org/W104295954","https://openalex.org/W1568552337","https://openalex.org/W1964444099","https://openalex.org/W1965883410","https://openalex.org/W1974440717","https://openalex.org/W1974584273","https://openalex.org/W1978335820","https://openalex.org/W1978908440","https://openalex.org/W1980309199","https://openalex.org/W1997899395","https://openalex.org/W2003145203","https://openalex.org/W2003315040","https://openalex.org/W2003969343","https://openalex.org/W2005149292","https://openalex.org/W2009291123","https://openalex.org/W2011620037","https://openalex.org/W2012840343","https://openalex.org/W2019028325","https://openalex.org/W2027160732","https://openalex.org/W2035617934","https://openalex.org/W2037094652","https://openalex.org/W2047143817","https://openalex.org/W2047634874","https://openalex.org/W2057198039","https://openalex.org/W2060556870","https://openalex.org/W2069872409","https://openalex.org/W2074099509","https://openalex.org/W2080287250","https://openalex.org/W2090456896","https://openalex.org/W2090689479","https://openalex.org/W2112161053","https://openalex.org/W2116484405","https://openalex.org/W2117975528","https://openalex.org/W2123194540","https://openalex.org/W2129185980","https://openalex.org/W2138773108","https://openalex.org/W2139695427","https://openalex.org/W2139852368","https://openalex.org/W2144446993","https://openalex.org/W2144589096","https://openalex.org/W2152717615","https://openalex.org/W2154650366","https://openalex.org/W2165912575","https://openalex.org/W2171854303","https://openalex.org/W2265102965","https://openalex.org/W4298357390","https://openalex.org/W4300998128"],"related_works":["https://openalex.org/W3033471702","https://openalex.org/W2000732669","https://openalex.org/W2003315040","https://openalex.org/W2185495919","https://openalex.org/W2003192992","https://openalex.org/W6947928665","https://openalex.org/W3130539120","https://openalex.org/W27174256","https://openalex.org/W2998184345","https://openalex.org/W6980126680"],"abstract_inverted_index":{"Autism":[0],"Spectrum":[1],"Disorders":[2],"(ASD)":[3],"are":[4,154],"complex":[5],"neurodevelopmental":[6],"diseases":[7],"clinically":[8],"defined":[9],"by":[10],"dysfunction":[11,195],"of":[12,16,56,67,91,101,133,156,173,178],"social":[13],"interaction.":[14],"Dysregulation":[15],"cellular":[17],"calcium":[18,32,111,193],"homeostasis":[19],"might":[20],"be":[21,100],"involved":[22],"in":[23,63,88,115,186],"ASD":[24,187],"pathogenesis,":[25],"and":[26,37,60,76],"genes":[27],"coding":[28],"for":[29,46,71],"the":[30,72,97,138,149,152,157,171,190],"L-type":[31],"channel":[33,194],"subunits":[34],"CaV1.2":[35],"(CACNA1C)":[36],"CaV\u03b22":[38],"(CACNB2)":[39],"were":[40],"recently":[41],"identified":[42,185],"as":[43,128,130],"risk":[44],"loci":[45],"psychiatric":[47],"diseases.":[48],"Here,":[49],"we":[50],"present":[51],"three":[52,180],"rare":[53,181],"missense":[54,183],"mutations":[55,80,98,122,153,184],"CACNB2":[57,182],"(G167S,":[58],"S197F,":[59],"F240L)":[61],"found":[62],"ASD-affected":[64],"families,":[65],"two":[66],"them":[68],"described":[69],"here":[70],"first":[73],"time":[74],"(G167S":[75],"F240L).":[77],"All":[78],"these":[79,179],"affect":[81],"highly":[82],"conserved":[83],"regions":[84],"while":[85],"being":[86],"absent":[87],"a":[89,116,163],"sample":[90],"ethnically":[92],"matched":[93],"controls.":[94],"We":[95],"suggest":[96],"to":[99,198],"physiological":[102],"relevance":[103],"since":[104],"they":[105],"modulate":[106],"whole-cell":[107],"Ba2+":[108],"currents":[109],"through":[110],"channels":[112],"when":[113],"expressed":[114],"recombinant":[117],"system":[118],"(HEK-293":[119],"cells).":[120],"Two":[121],"displayed":[123],"significantly":[124,143],"decelerated":[125],"time-dependent":[126,145],"inactivation":[127],"well":[129],"increased":[131],"sensitivity":[132],"voltage-dependent":[134],"inactivation.":[135,146],"In":[136,169],"contrast,":[137],"third":[139],"mutation":[140,159],"(F240L)":[141],"showed":[142],"accelerated":[144],"By":[147],"altering":[148],"kinetic":[150],"parameters,":[151],"reminiscent":[155],"CACNA1C":[158],"causing":[160],"Timothy":[161],"Syndrome,":[162],"Mendelian":[164],"disease":[165],"presenting":[166],"with":[167],"ASD.":[168],"conclusion,":[170],"results":[172],"our":[174],"first-time":[175],"biophysical":[176],"characterization":[177],"patients":[188],"support":[189],"hypothesis":[191],"that":[192],"may":[196],"contribute":[197],"autism.":[199]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":10},{"year":2019,"cited_by_count":6},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":1}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
