{"id":"https://openalex.org/W2149076288","doi":"https://doi.org/10.1038/ng885","title":"Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy","display_name":"Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy","publication_year":2002,"publication_date":"2002-05-06","ids":{"openalex":"https://openalex.org/W2149076288","doi":"https://doi.org/10.1038/ng885","mag":"2149076288","pmid":"https://pubmed.ncbi.nlm.nih.gov/11992121"},"language":"en","primary_location":{"id":"doi:10.1038/ng885","doi":"https://doi.org/10.1038/ng885","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ng885","pdf_url":null,"source":{"id":"https://openalex.org/S137905309","display_name":"Nature Genetics","issn_l":"1061-4036","issn":["1061-4036","1546-1718"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5056265202","display_name":"Patrick Cossette","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801766832","display_name":"McGill University Health Centre","ror":"https://ror.org/04cpxjv19","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I4405263283","display_name":"Research Institute of the McGill University Health Centre","ror":"https://ror.org/04pemf943","country_code":"CA","type":"government","lineage":["https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405263283","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I5023651","display_name":"McGill University","ror":"https://ror.org/01pxwe438","country_code":"CA","type":"education","lineage":["https://openalex.org/I5023651"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Patrick Cossette","raw_affiliation_strings":["Centre for Research in Neuroscience, McGill University Health Center Research Institute and McGill University, 1650 Cedar Avenue, Montr\u00e9al, Qu\u00e9bec H3G 1A4, Canada","Centre for Research in Neuroscience, McGill University Health Center Research Institute and McGill University, 1650 Cedar Avenue, Montr\u00e9al, H3G 1A4, Qu\u00e9bec, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Research in Neuroscience, McGill University Health Center Research Institute and McGill University, 1650 Cedar Avenue, Montr\u00e9al, Qu\u00e9bec H3G 1A4, Canada","institution_ids":["https://openalex.org/I2801766832","https://openalex.org/I4405263283","https://openalex.org/I5023651"]},{"raw_affiliation_string":"Centre for Research in Neuroscience, McGill University Health Center Research Institute and McGill University, 1650 Cedar Avenue, Montr\u00e9al, H3G 1A4, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I2801766832","https://openalex.org/I4405263283","https://openalex.org/I5023651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101666611","display_name":"Lidong Liu","orcid":"https://orcid.org/0000-0002-7026-690X","observed_orcids":["https://orcid.org/0000-0002-7026-690X"]},"institutions":[{"id":"https://openalex.org/I141945490","display_name":"University of British Columbia","ror":"https://ror.org/03rmrcq20","country_code":"CA","type":"education","lineage":["https://openalex.org/I141945490"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Lidong Liu","raw_affiliation_strings":["Department of Medicine and Brain Research Centre, Vancouver Hospital, University of British Columbia, Vancouver, Canada","Program in Brain and Behaviour, Hospital for Sick Children, Toronto, Ontario, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine and Brain Research Centre, Vancouver Hospital, University of British Columbia, Vancouver, Canada","institution_ids":["https://openalex.org/I141945490"]},{"raw_affiliation_string":"Program in Brain and Behaviour, Hospital for Sick Children, Toronto, Ontario, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065178175","display_name":"Kat\u00e9ri Brisebois","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801766832","display_name":"McGill University Health Centre","ror":"https://ror.org/04cpxjv19","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I4405263283","display_name":"Research Institute of the McGill University Health Centre","ror":"https://ror.org/04pemf943","country_code":"CA","type":"government","lineage":["https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405263283","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I5023651","display_name":"McGill University","ror":"https://ror.org/01pxwe438","country_code":"CA","type":"education","lineage":["https://openalex.org/I5023651"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Kat\u00e9ri Brisebois","raw_affiliation_strings":["Centre for Research in Neuroscience, McGill University Health Center Research Institute and McGill University, 1650 Cedar Avenue, Montr\u00e9al, H3G 1A4, Qu\u00e9bec, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Research in Neuroscience, McGill University Health Center Research Institute and McGill University, 1650 Cedar Avenue, Montr\u00e9al, H3G 1A4, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I2801766832","https://openalex.org/I4405263283","https://openalex.org/I5023651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111917122","display_name":"Haiheng Dong","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1323843004","display_name":"Sunnybrook Health Science Centre","ror":"https://ror.org/03wefcv03","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1323843004"]},{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Haiheng Dong","raw_affiliation_strings":["Departments of Anesthesia and Physiology, University of Toronto, Canada","Neuroscience Research at Sunnybrook and Women's College Health Sciences Centre,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Anesthesia and Physiology, University of Toronto, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Neuroscience Research at Sunnybrook and Women's College Health Sciences Centre,","institution_ids":["https://openalex.org/I1323843004"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056127151","display_name":"Anne Lortie","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802351361","display_name":"Centre Hospitalier Universitaire Sainte-Justine","ror":"https://ror.org/01gv74p78","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I2802351361","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Anne Lortie","raw_affiliation_strings":["Service de Neurologie, H\u00f4pital Sainte-Justine, Montr\u00e9al, Qu\u00e9bec, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neurologie, H\u00f4pital Sainte-Justine, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I2802351361"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044679581","display_name":"Michel Vanasse","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802351361","display_name":"Centre Hospitalier Universitaire Sainte-Justine","ror":"https://ror.org/01gv74p78","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I2802351361","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Michel Vanasse","raw_affiliation_strings":["Service de Neurologie, H\u00f4pital Sainte-Justine, Montr\u00e9al, Qu\u00e9bec, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neurologie, H\u00f4pital Sainte-Justine, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I2802351361"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110874948","display_name":"J. M. Saint-Hilaire","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210107362","display_name":"H\u00f4pital Notre-Dame","ror":"https://ror.org/01w7qz648","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I4210107362","https://openalex.org/I4210139015","https://openalex.org/I4210142730","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I4210142730","display_name":"Centre Hospitalier de l\u2019Universit\u00e9 de Montr\u00e9al","ror":"https://ror.org/0410a8y51","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4210142730","https://openalex.org/I4405279980"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Jean-Marc Saint-Hilaire","raw_affiliation_strings":["Service de Neurologie, Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al\u2014H\u00f4pital Notre-Dame, Montr\u00e9al, Qu\u00e9bec, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neurologie, Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al\u2014H\u00f4pital Notre-Dame, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I4210107362","https://openalex.org/I4210142730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058439594","display_name":"Lionel Carmant","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802351361","display_name":"Centre Hospitalier Universitaire Sainte-Justine","ror":"https://ror.org/01gv74p78","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I2802351361","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I4210107362","display_name":"H\u00f4pital Notre-Dame","ror":"https://ror.org/01w7qz648","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I4210107362","https://openalex.org/I4210139015","https://openalex.org/I4210142730","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I4210142730","display_name":"Centre Hospitalier de l\u2019Universit\u00e9 de Montr\u00e9al","ror":"https://ror.org/0410a8y51","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4210142730","https://openalex.org/I4405279980"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Lionel Carmant","raw_affiliation_strings":["Service de Neurologie, Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al\u2014H\u00f4pital Notre-Dame, Montr\u00e9al, Qu\u00e9bec, Canada","Service de Neurologie, H\u00f4pital Sainte-Justine, Montr\u00e9al, Qu\u00e9bec, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neurologie, Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al\u2014H\u00f4pital Notre-Dame, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I4210107362","https://openalex.org/I4210142730"]},{"raw_affiliation_string":"Service de Neurologie, H\u00f4pital Sainte-Justine, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I2802351361"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111750620","display_name":"Andrei Verner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800293973","display_name":"Montreal General Hospital","ror":"https://ror.org/04gbhgc79","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2800293973","https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I5023651","display_name":"McGill University","ror":"https://ror.org/01pxwe438","country_code":"CA","type":"education","lineage":["https://openalex.org/I5023651"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Andrei Verner","raw_affiliation_strings":["Montreal Genome Center, The Montreal General Hospital, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Montreal Genome Center, The Montreal General Hospital, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I2800293973","https://openalex.org/I5023651"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Wei-Yang Lu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1323843004","display_name":"Sunnybrook Health Science Centre","ror":"https://ror.org/03wefcv03","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1323843004"]},{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Wei-Yang Lu","raw_affiliation_strings":["Departments of Anesthesia and Physiology, University of Toronto, Canada","Neuroscience Research at Sunnybrook and Women's College Health Sciences Centre,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Anesthesia and Physiology, University of Toronto, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Neuroscience Research at Sunnybrook and Women's College Health Sciences Centre,","institution_ids":["https://openalex.org/I1323843004"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047476496","display_name":"Yu Tian Wang","orcid":"https://orcid.org/0000-0001-8592-0698","observed_orcids":["https://orcid.org/0000-0001-8592-0698"]},"institutions":[{"id":"https://openalex.org/I141945490","display_name":"University of British Columbia","ror":"https://ror.org/03rmrcq20","country_code":"CA","type":"education","lineage":["https://openalex.org/I141945490"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Yu Tian Wang","raw_affiliation_strings":["Department of Medicine and Brain Research Centre, Vancouver Hospital, University of British Columbia, Vancouver, Canada","Program in Brain and Behaviour, Hospital for Sick Children, Toronto, Ontario, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine and Brain Research Centre, Vancouver Hospital, University of British Columbia, Vancouver, Canada","institution_ids":["https://openalex.org/I141945490"]},{"raw_affiliation_string":"Program in Brain and Behaviour, Hospital for Sick Children, Toronto, Ontario, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5002628021","display_name":"Guy Armand Rouleau","orcid":"https://orcid.org/0000-0001-8403-1418","observed_orcids":["https://orcid.org/0000-0001-8403-1418","https://orcid.org/0000-0002-6665-8572"]},"institutions":[{"id":"https://openalex.org/I2801766832","display_name":"McGill University Health Centre","ror":"https://ror.org/04cpxjv19","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I4405263283","display_name":"Research Institute of the McGill University Health Centre","ror":"https://ror.org/04pemf943","country_code":"CA","type":"government","lineage":["https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405263283","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I5023651","display_name":"McGill University","ror":"https://ror.org/01pxwe438","country_code":"CA","type":"education","lineage":["https://openalex.org/I5023651"]}],"countries":["CA"],"is_corresponding":true,"raw_author_name":"Guy A. Rouleau","raw_affiliation_strings":["Centre for Research in Neuroscience, McGill University Health Center Research Institute and McGill University, 1650 Cedar Avenue, Montr\u00e9al, H3G 1A4, Qu\u00e9bec, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Research in Neuroscience, McGill University Health Center Research Institute and McGill University, 1650 Cedar Avenue, Montr\u00e9al, H3G 1A4, Qu\u00e9bec, Canada","institution_ids":["https://openalex.org/I2801766832","https://openalex.org/I4405263283","https://openalex.org/I5023651"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":11,"corresponding_author_ids":["https://openalex.org/A5002628021"],"corresponding_institution_ids":["https://openalex.org/I2801766832","https://openalex.org/I4405263283","https://openalex.org/I5023651"],"apc_list":{"value":12690,"currency":"USD","value_usd":12690},"apc_paid":null,"fwci":26.923,"has_fulltext":false,"cited_by_count":660,"citation_normalized_percentile":{"value":0.99885106,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"31","issue":"2","first_page":"184","last_page":"189"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.9965999722480774,"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"}},"topics":[{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.9965999722480774,"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"}},{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.0010000000474974513,"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/T10077","display_name":"Neuroscience and Neuropharmacology Research","score":0.0010000000474974513,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/gabra1","display_name":"GABRA1","score":0.9940000176429749},{"id":"https://openalex.org/keywords/juvenile-myoclonic-epilepsy","display_name":"juvenile myoclonic epilepsy","score":0.8980000019073486},{"id":"https://openalex.org/keywords/idiopathic-generalized-epilepsy","display_name":"idiopathic generalized epilepsy","score":0.8730000257492065},{"id":"https://openalex.org/keywords/gaba-a-receptor","display_name":"GABAA receptor","score":0.8190000057220459},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.8379999995231628},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.7739999890327454},{"id":"https://openalex.org/keywords/gaba-activated-currents","display_name":"GABA-activated currents","score":0.8339999914169312},{"id":"https://openalex.org/keywords/genetic-predisposition-to-epilepsy","display_name":"genetic predisposition to epilepsy","score":0.7229999899864197},{"id":"https://openalex.org/keywords/french-canadian-families","display_name":"French-Canadian families","score":0.8410000205039978}],"concepts":[{"id":"https://openalex.org/C2779814861","wikidata":"https://www.wikidata.org/wiki/Q543517","display_name":"Juvenile myoclonic epilepsy","level":3,"score":0.9426130056381226},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7458680868148804},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.7144500613212585},{"id":"https://openalex.org/C2777295592","wikidata":"https://www.wikidata.org/wiki/Q5988876","display_name":"Idiopathic generalized epilepsy","level":3,"score":0.6614125967025757},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5993101596832275},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.4512554407119751},{"id":"https://openalex.org/C2778566530","wikidata":"https://www.wikidata.org/wiki/Q2894827","display_name":"Childhood absence epilepsy","level":3,"score":0.4462173283100128},{"id":"https://openalex.org/C104292427","wikidata":"https://www.wikidata.org/wiki/Q899781","display_name":"Protein subunit","level":3,"score":0.44274285435676575},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.44205614924430847},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.43515199422836304},{"id":"https://openalex.org/C2775859823","wikidata":"https://www.wikidata.org/wiki/Q11883686","display_name":"Myoclonic epilepsy","level":3,"score":0.41995781660079956},{"id":"https://openalex.org/C115961737","wikidata":"https://www.wikidata.org/wiki/Q1516282","display_name":"Juvenile","level":2,"score":0.41035518050193787},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3449889123439789},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.29748666286468506},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.20357516407966614},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.11164411902427673}],"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":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004829","descriptor_name":"Epilepsy, Generalized","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D004829","descriptor_name":"Epilepsy, Generalized","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011963","descriptor_name":"Receptors, GABA-A","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020190","descriptor_name":"Myoclonic Epilepsy, Juvenile","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D020190","descriptor_name":"Myoclonic Epilepsy, Juvenile","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1038/ng885","doi":"https://doi.org/10.1038/ng885","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ng885","pdf_url":null,"source":{"id":"https://openalex.org/S137905309","display_name":"Nature Genetics","issn_l":"1061-4036","issn":["1061-4036","1546-1718"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Genetics","raw_type":"journal-article"},{"id":"pmid:11992121","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11992121","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":"Nature genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.6240000128746033,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":30,"referenced_works":["https://openalex.org/W570585051","https://openalex.org/W1479790262","https://openalex.org/W1500569882","https://openalex.org/W1510360284","https://openalex.org/W1561406796","https://openalex.org/W1604929717","https://openalex.org/W1627446849","https://openalex.org/W1905378438","https://openalex.org/W1964287283","https://openalex.org/W1984332960","https://openalex.org/W1985885181","https://openalex.org/W1996220863","https://openalex.org/W2000710745","https://openalex.org/W2001465365","https://openalex.org/W2007792193","https://openalex.org/W2017428806","https://openalex.org/W2023828382","https://openalex.org/W2035544035","https://openalex.org/W2047556076","https://openalex.org/W2054007006","https://openalex.org/W2062186332","https://openalex.org/W2069543630","https://openalex.org/W2077658432","https://openalex.org/W2087230364","https://openalex.org/W2093309387","https://openalex.org/W2117194128","https://openalex.org/W2127230663","https://openalex.org/W2137545427","https://openalex.org/W2148002314","https://openalex.org/W2766489534"],"related_works":["https://openalex.org/W4312744860","https://openalex.org/W1907648111","https://openalex.org/W2059233895","https://openalex.org/W2024770631","https://openalex.org/W1982135313","https://openalex.org/W2045469445","https://openalex.org/W2768794529","https://openalex.org/W2329061151","https://openalex.org/W2747277216","https://openalex.org/W2774422420"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":10},{"year":2025,"cited_by_count":12},{"year":2024,"cited_by_count":17},{"year":2023,"cited_by_count":13},{"year":2022,"cited_by_count":18},{"year":2021,"cited_by_count":18},{"year":2020,"cited_by_count":24},{"year":2019,"cited_by_count":21},{"year":2018,"cited_by_count":18},{"year":2017,"cited_by_count":32},{"year":2016,"cited_by_count":17},{"year":2015,"cited_by_count":22},{"year":2014,"cited_by_count":30},{"year":2013,"cited_by_count":28},{"year":2012,"cited_by_count":26}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2016-06-24T00:00:00"}