{"id":"https://openalex.org/W4214510672","doi":"https://doi.org/10.3233/ds-210051","title":"A formalization of one of the main claims of \u201cMutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes\u201d by Schubert et al. 2014","display_name":"A formalization of one of the main claims of \u201cMutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes\u201d by Schubert et al. 2014","publication_year":2022,"publication_date":"2022-02-28","ids":{"openalex":"https://openalex.org/W4214510672","doi":"https://doi.org/10.3233/ds-210051"},"language":"en","primary_location":{"id":"doi:10.3233/ds-210051","is_oa":true,"landing_page_url":"https://doi.org/10.3233/ds-210051","pdf_url":"https://content.iospress.com:443/download/data-science/ds210051?id=data-science%2Fds210051","source":{"id":"https://openalex.org/S4210178722","display_name":"Data Science","issn_l":"2451-8484","issn":["2451-8484","2451-8492"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Data Science","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://content.iospress.com:443/download/data-science/ds210051?id=data-science%2Fds210051","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5060766412","display_name":"Valentin Grou\u00e8s","orcid":"https://orcid.org/0000-0001-6501-0806"},"institutions":[{"id":"https://openalex.org/I186903577","display_name":"University of Luxembourg","ror":"https://ror.org/036x5ad56","country_code":"LU","type":"education","lineage":["https://openalex.org/I186903577"]}],"countries":["LU"],"is_corresponding":true,"raw_author_name":"Valentin Grou\u00e8s","raw_affiliation_strings":["Luxembourg Centre for Systems Biomedicine, Universit\u00e9 du Luxembourg, Luxemburg"],"affiliations":[{"raw_affiliation_string":"Luxembourg Centre for Systems Biomedicine, Universit\u00e9 du Luxembourg, Luxemburg","institution_ids":["https://openalex.org/I186903577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066133160","display_name":"Carlos Vega","orcid":"https://orcid.org/0000-0002-7979-9921"},"institutions":[{"id":"https://openalex.org/I186903577","display_name":"University of Luxembourg","ror":"https://ror.org/036x5ad56","country_code":"LU","type":"education","lineage":["https://openalex.org/I186903577"]}],"countries":["LU"],"is_corresponding":false,"raw_author_name":"Carlos Vega Moreno","raw_affiliation_strings":["Luxembourg Centre for Systems Biomedicine, Universit\u00e9 du Luxembourg, Luxemburg"],"affiliations":[{"raw_affiliation_string":"Luxembourg Centre for Systems Biomedicine, Universit\u00e9 du Luxembourg, Luxemburg","institution_ids":["https://openalex.org/I186903577"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5088017410","display_name":"Venkata Satagopam","orcid":"https://orcid.org/0000-0002-6532-5880"},"institutions":[{"id":"https://openalex.org/I186903577","display_name":"University of Luxembourg","ror":"https://ror.org/036x5ad56","country_code":"LU","type":"education","lineage":["https://openalex.org/I186903577"]}],"countries":["LU"],"is_corresponding":false,"raw_author_name":"Venkata Pardhasaradhi Satagopam","raw_affiliation_strings":["Luxembourg Centre for Systems Biomedicine, Universit\u00e9 du Luxembourg, Luxemburg"],"affiliations":[{"raw_affiliation_string":"Luxembourg Centre for Systems Biomedicine, Universit\u00e9 du Luxembourg, Luxemburg","institution_ids":["https://openalex.org/I186903577"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5060766412"],"corresponding_institution_ids":["https://openalex.org/I186903577"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.02192994,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"5","issue":"1","first_page":"71","last_page":"73"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.9879999756813049,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.9879999756813049,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10943","display_name":"Escherichia coli research studies","score":0.9843000173568726,"subfield":{"id":"https://openalex.org/subfields/1310","display_name":"Endocrinology"},"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/T11684","display_name":"Vibrio bacteria research studies","score":0.9728000164031982,"subfield":{"id":"https://openalex.org/subfields/1310","display_name":"Endocrinology"},"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/context","display_name":"Context (archaeology)","score":0.7846542596817017},{"id":"https://openalex.org/keywords/epilepsy","display_name":"Epilepsy","score":0.7689974308013916},{"id":"https://openalex.org/keywords/class","display_name":"Class (philosophy)","score":0.5260434150695801},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.49825191497802734},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4932078719139099},{"id":"https://openalex.org/keywords/neuroscience","display_name":"Neuroscience","score":0.3803115785121918},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.36300450563430786},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.29080110788345337},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.07745656371116638}],"concepts":[{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.7846542596817017},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.7689974308013916},{"id":"https://openalex.org/C2777212361","wikidata":"https://www.wikidata.org/wiki/Q5127848","display_name":"Class (philosophy)","level":2,"score":0.5260434150695801},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.49825191497802734},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4932078719139099},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.3803115785121918},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.36300450563430786},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.29080110788345337},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.07745656371116638},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.0},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.3233/ds-210051","is_oa":true,"landing_page_url":"https://doi.org/10.3233/ds-210051","pdf_url":"https://content.iospress.com:443/download/data-science/ds210051?id=data-science%2Fds210051","source":{"id":"https://openalex.org/S4210178722","display_name":"Data Science","issn_l":"2451-8484","issn":["2451-8484","2451-8492"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Data Science","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.3233/ds-210051","is_oa":true,"landing_page_url":"https://doi.org/10.3233/ds-210051","pdf_url":"https://content.iospress.com:443/download/data-science/ds210051?id=data-science%2Fds210051","source":{"id":"https://openalex.org/S4210178722","display_name":"Data Science","issn_l":"2451-8484","issn":["2451-8484","2451-8492"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Data Science","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.5799999833106995,"display_name":"Good health and well-being"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4214510672.pdf","grobid_xml":"https://content.openalex.org/works/W4214510672.grobid-xml"},"referenced_works_count":2,"referenced_works":["https://openalex.org/W2042069759","https://openalex.org/W3215545144"],"related_works":["https://openalex.org/W2395385109","https://openalex.org/W2773633178","https://openalex.org/W2802335767","https://openalex.org/W2080101436","https://openalex.org/W4388090985","https://openalex.org/W2356350882","https://openalex.org/W1545074592","https://openalex.org/W2275559830","https://openalex.org/W2146849562","https://openalex.org/W2028961943"],"abstract_inverted_index":{"Schubert":[0],"et":[1],"al.":[2],"claimed":[3],"in":[4,9,33,56],"previous":[5],"work":[6],"that":[7,21,24,31],"mutations":[8],"STX1B":[10],"are":[11,32],"associated":[12],"with":[13],"epilepsy.":[14],"We":[15],"present":[16],"here":[17],"a":[18,37,44,51],"formalization":[19],"of":[20,27,36,39,46,53],"claim,":[22],"stating":[23],"all":[25],"things":[26],"class":[28,40,54],"\u201cSTX1B":[29],"mutation\u201d":[30],"the":[34,57],"context":[35],"thing":[38,52],"\u201chuman\u201d":[41],"frequently":[42],"have":[43],"relation":[45],"type":[47],"\u201cco-occurs":[48],"with\u201d":[49],"to":[50],"\u201cepilepsy\u201d":[55],"same":[58],"context.":[59]},"counts_by_year":[],"updated_date":"2026-03-10T14:07:55.174380","created_date":"2025-10-10T00:00:00"}