{"id":"https://openalex.org/W2094039324","doi":"https://doi.org/10.1086/302649","title":"Mapping of a Gene Determining Familial Partial Epilepsy with Variable Foci to Chromosome 22q11-q12","display_name":"Mapping of a Gene Determining Familial Partial Epilepsy with Variable Foci to Chromosome 22q11-q12","publication_year":1999,"publication_date":"1999-12-01","ids":{"openalex":"https://openalex.org/W2094039324","doi":"https://doi.org/10.1086/302649","mag":"2094039324","pmid":"https://pubmed.ncbi.nlm.nih.gov/10577924","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1288381"},"language":"en","primary_location":{"id":"doi:10.1086/302649","doi":"https://doi.org/10.1086/302649","is_oa":true,"landing_page_url":"https://doi.org/10.1086/302649","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.1086/302649","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5103163988","display_name":"Lan Xiong","orcid":"https://orcid.org/0000-0002-9667-4581","observed_orcids":["https://orcid.org/0000-0002-9667-4581","https://orcid.org/0000-0003-2760-8721"]},"institutions":[{"id":"https://openalex.org/I1292859797","display_name":"Montreal Neurological Institute and Hospital","ror":"https://ror.org/05ghs6f64","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1292859797","https://openalex.org/I2801766832","https://openalex.org/I2801902503","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"]},{"id":"https://openalex.org/I70931966","display_name":"Universit\u00e9 de Montr\u00e9al","ror":"https://ror.org/0161xgx34","country_code":"CA","type":"education","lineage":["https://openalex.org/I70931966"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Lan Xiong","raw_affiliation_strings":["Centre Hospitalier de Universit\u00e9 de Montr\u00e9al, H\u00f4pital Notre-Dame, Montr\u00e9al, QC, H2L 4M1 Canada","Department of Medicine, University of Montreal, Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al, Montreal","Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre Hospitalier de Universit\u00e9 de Montr\u00e9al, H\u00f4pital Notre-Dame, Montr\u00e9al, QC, H2L 4M1 Canada","institution_ids":["https://openalex.org/I4210107362","https://openalex.org/I70931966"]},{"raw_affiliation_string":"Department of Medicine, University of Montreal, Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al, Montreal","institution_ids":["https://openalex.org/I4210142730","https://openalex.org/I70931966"]},{"raw_affiliation_string":"Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal","institution_ids":["https://openalex.org/I1292859797"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108486400","display_name":"Malgorzata Labuda","orcid":null,"observed_orcids":[]},"institutions":[{"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"]},{"id":"https://openalex.org/I70931966","display_name":"Universit\u00e9 de Montr\u00e9al","ror":"https://ror.org/0161xgx34","country_code":"CA","type":"education","lineage":["https://openalex.org/I70931966"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Malgorzata Labuda","raw_affiliation_strings":["Department of Medicine, University of Montreal, Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al, Montreal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, University of Montreal, Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al, Montreal","institution_ids":["https://openalex.org/I4210142730","https://openalex.org/I70931966"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100440895","display_name":"Dongsheng Li","orcid":"https://orcid.org/0000-0001-5348-4764","observed_orcids":["https://orcid.org/0000-0001-5348-4764"]},"institutions":[{"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"]},{"id":"https://openalex.org/I70931966","display_name":"Universit\u00e9 de Montr\u00e9al","ror":"https://ror.org/0161xgx34","country_code":"CA","type":"education","lineage":["https://openalex.org/I70931966"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Dong-Sheng Li","raw_affiliation_strings":["Department of Medicine, University of Montreal, Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al, Montreal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, University of Montreal, Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al, Montreal","institution_ids":["https://openalex.org/I4210142730","https://openalex.org/I70931966"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060105528","display_name":"Thomas J. Hudson","orcid":"https://orcid.org/0000-0002-1376-4849","observed_orcids":["https://orcid.org/0000-0002-1376-4849"]},"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"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Thomas J. Hudson","raw_affiliation_strings":["Montreal General Hospital Research Center, Montreal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Montreal General Hospital Research Center, Montreal","institution_ids":["https://openalex.org/I2800293973"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110873509","display_name":"Richard Desbiens","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210093650","display_name":"Centre hospitalier universitaire de Qu\u00e9bec","ror":"https://ror.org/006a7pj43","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I4210093650","https://openalex.org/I4210139015","https://openalex.org/I4405257837","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I43406934","display_name":"Universit\u00e9 Laval","ror":"https://ror.org/04sjchr03","country_code":"CA","type":"education","lineage":["https://openalex.org/I43406934"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Richard Desbiens","raw_affiliation_strings":["Universit\u00e9 Laval, Centre Hospitalier Universitaire de Qu\u00e9bec, Qu\u00e9bec"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Laval, Centre Hospitalier Universitaire de Qu\u00e9bec, Qu\u00e9bec","institution_ids":["https://openalex.org/I4210093650","https://openalex.org/I43406934"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110409354","display_name":"G. Patry","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210093650","display_name":"Centre hospitalier universitaire de Qu\u00e9bec","ror":"https://ror.org/006a7pj43","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I4210093650","https://openalex.org/I4210139015","https://openalex.org/I4405257837","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I43406934","display_name":"Universit\u00e9 Laval","ror":"https://ror.org/04sjchr03","country_code":"CA","type":"education","lineage":["https://openalex.org/I43406934"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Georges Patry","raw_affiliation_strings":["Universit\u00e9 Laval, Centre Hospitalier Universitaire de Qu\u00e9bec, Qu\u00e9bec"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Laval, Centre Hospitalier Universitaire de Qu\u00e9bec, Qu\u00e9bec","institution_ids":["https://openalex.org/I4210093650","https://openalex.org/I43406934"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078082215","display_name":"Simon Verret","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210093650","display_name":"Centre hospitalier universitaire de Qu\u00e9bec","ror":"https://ror.org/006a7pj43","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I4210093650","https://openalex.org/I4210139015","https://openalex.org/I4405257837","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I43406934","display_name":"Universit\u00e9 Laval","ror":"https://ror.org/04sjchr03","country_code":"CA","type":"education","lineage":["https://openalex.org/I43406934"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Simon Verret","raw_affiliation_strings":["Universit\u00e9 Laval, Centre Hospitalier Universitaire de Qu\u00e9bec, Qu\u00e9bec"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Laval, Centre Hospitalier Universitaire de Qu\u00e9bec, Qu\u00e9bec","institution_ids":["https://openalex.org/I4210093650","https://openalex.org/I43406934"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088068889","display_name":"Pierre Langevin","orcid":"https://orcid.org/0000-0003-4339-3687","observed_orcids":["https://orcid.org/0000-0003-4339-3687"]},"institutions":[{"id":"https://openalex.org/I4210093650","display_name":"Centre hospitalier universitaire de Qu\u00e9bec","ror":"https://ror.org/006a7pj43","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I4210093650","https://openalex.org/I4210139015","https://openalex.org/I4405257837","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I43406934","display_name":"Universit\u00e9 Laval","ror":"https://ror.org/04sjchr03","country_code":"CA","type":"education","lineage":["https://openalex.org/I43406934"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Pierre Langevin","raw_affiliation_strings":["Universit\u00e9 Laval, Centre Hospitalier Universitaire de Qu\u00e9bec, Qu\u00e9bec"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Laval, Centre Hospitalier Universitaire de Qu\u00e9bec, Qu\u00e9bec","institution_ids":["https://openalex.org/I4210093650","https://openalex.org/I43406934"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048289075","display_name":"Suha Mercho","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1292859797","display_name":"Montreal Neurological Institute and Hospital","ror":"https://ror.org/05ghs6f64","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1292859797","https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Suha Mercho","raw_affiliation_strings":["Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal","institution_ids":["https://openalex.org/I1292859797"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109214044","display_name":"Marie\u2010H\u00e9l\u00e8ne Seni","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1292859797","display_name":"Montreal Neurological Institute and Hospital","ror":"https://ror.org/05ghs6f64","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1292859797","https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Marie-H\u00e9l\u00e8ne Seni","raw_affiliation_strings":["Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal","institution_ids":["https://openalex.org/I1292859797"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041159807","display_name":"Ingrid Eileen Scheffer","orcid":"https://orcid.org/0000-0002-2311-2174","observed_orcids":["https://orcid.org/0000-0002-2311-2174"]},"institutions":[{"id":"https://openalex.org/I1321649718","display_name":"Royal Children's Hospital","ror":"https://ror.org/02rktxt32","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1321649718"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2801350665","display_name":"Monash Medical Centre","ror":"https://ror.org/036s9kg65","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801350665","https://openalex.org/I4210121067"]},{"id":"https://openalex.org/I4210121067","display_name":"Monash Health","ror":"https://ror.org/02t1bej08","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210121067"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Ingrid Scheffer","raw_affiliation_strings":["Department of Medicine, University of Melbourne, Austin and Repatriation Medical Center, Melbourne","Department of Neurology, Royal Children's Hospital, Melbourne","Department of Neurosciences, Monash Medical Centre, Melbourne"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, University of Melbourne, Austin and Repatriation Medical Center, Melbourne","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Department of Neurology, Royal Children's Hospital, Melbourne","institution_ids":["https://openalex.org/I1321649718"]},{"raw_affiliation_string":"Department of Neurosciences, Monash Medical Centre, Melbourne","institution_ids":["https://openalex.org/I2801350665","https://openalex.org/I4210121067"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053040162","display_name":"Fran\u00e7ois Dubeau","orcid":"https://orcid.org/0000-0002-2956-3208","observed_orcids":["https://orcid.org/0000-0002-2956-3208","https://orcid.org/0009-0005-1243-5217"]},"institutions":[{"id":"https://openalex.org/I1292859797","display_name":"Montreal Neurological Institute and Hospital","ror":"https://ror.org/05ghs6f64","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1292859797","https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Fran\u00e7ois Dubeau","raw_affiliation_strings":["Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal","institution_ids":["https://openalex.org/I1292859797"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054067653","display_name":"Samuel Frank Berkovic","orcid":"https://orcid.org/0000-0003-4580-841X","observed_orcids":["https://orcid.org/0000-0003-4580-841X"]},"institutions":[{"id":"https://openalex.org/I1292859797","display_name":"Montreal Neurological Institute and Hospital","ror":"https://ror.org/05ghs6f64","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1292859797","https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]}],"countries":["AU","CA"],"is_corresponding":false,"raw_author_name":"Samuel F. Berkovic","raw_affiliation_strings":["Department of Medicine, University of Melbourne, Austin and Repatriation Medical Center, Melbourne","Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, University of Melbourne, Austin and Repatriation Medical Center, Melbourne","institution_ids":["https://openalex.org/I165779595"]},{"raw_affiliation_string":"Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal","institution_ids":["https://openalex.org/I1292859797"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110117456","display_name":"Fr\u00e9d\u00e9rick Andermann","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1292859797","display_name":"Montreal Neurological Institute and Hospital","ror":"https://ror.org/05ghs6f64","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1292859797","https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","https://openalex.org/I4405279980"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Frederick Andermann","raw_affiliation_strings":["Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal","institution_ids":["https://openalex.org/I1292859797"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108246192","display_name":"Eva Andermann","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1292859797","display_name":"Montreal Neurological Institute and Hospital","ror":"https://ror.org/05ghs6f64","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1292859797","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":"Eva Andermann","raw_affiliation_strings":["Department of Human Genetics, McGill University, Montreal","Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, McGill University, Montreal","institution_ids":["https://openalex.org/I5023651"]},{"raw_affiliation_string":"Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal","institution_ids":["https://openalex.org/I1292859797"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5080418392","display_name":"Massimo Pandolfo","orcid":"https://orcid.org/0000-0001-5230-5787","observed_orcids":["https://orcid.org/0000-0001-5230-5787"]},"institutions":[{"id":"https://openalex.org/I1292859797","display_name":"Montreal Neurological Institute and Hospital","ror":"https://ror.org/05ghs6f64","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1292859797","https://openalex.org/I2801766832","https://openalex.org/I2801902503","https://openalex.org/I4210139015","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"]},{"id":"https://openalex.org/I70931966","display_name":"Universit\u00e9 de Montr\u00e9al","ror":"https://ror.org/0161xgx34","country_code":"CA","type":"education","lineage":["https://openalex.org/I70931966"]}],"countries":["CA"],"is_corresponding":true,"raw_author_name":"Massimo Pandolfo","raw_affiliation_strings":["Department of Medicine, University of Montreal, Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al, Montreal","Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, University of Montreal, Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al, Montreal","institution_ids":["https://openalex.org/I4210142730","https://openalex.org/I70931966"]},{"raw_affiliation_string":"Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal","institution_ids":["https://openalex.org/I1292859797"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5080418392"],"corresponding_institution_ids":["https://openalex.org/I1292859797","https://openalex.org/I4210142730","https://openalex.org/I70931966"],"apc_list":{"value":5150,"currency":"USD","value_usd":5150},"apc_paid":null,"fwci":4.3749,"has_fulltext":false,"cited_by_count":94,"citation_normalized_percentile":{"value":0.94605947,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"65","issue":"6","first_page":"1698","last_page":"1710"},"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/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":0.9965999722480774,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.0003000000142492354,"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/linkage-mapping","display_name":"linkage mapping","score":0.7129999995231628},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.824999988079071},{"id":"https://openalex.org/keywords/incomplete-penetrance","display_name":"incomplete penetrance","score":0.9850000143051147},{"id":"https://openalex.org/keywords/founder-effect","display_name":"founder effect","score":0.9049999713897705},{"id":"https://openalex.org/keywords/homozygosity","display_name":"homozygosity","score":0.8069999814033508},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.6790000200271606},{"id":"https://openalex.org/keywords/nocturnal-seizures","display_name":"nocturnal seizures","score":0.9300000071525574},{"id":"https://openalex.org/keywords/haplotypes","display_name":"haplotypes","score":0.6679999828338623}],"concepts":[{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.9296854734420776},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.7094509601593018},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.6709107160568237},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6671156883239746},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.6616233587265015},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.6593096256256104},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.5924582481384277},{"id":"https://openalex.org/C2778734009","wikidata":"https://www.wikidata.org/wiki/Q55785625","display_name":"Epilepsy syndromes","level":3,"score":0.5139300227165222},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.49024277925491333},{"id":"https://openalex.org/C2910535243","wikidata":"https://www.wikidata.org/wiki/Q5113922","display_name":"Chromosomal region","level":4,"score":0.4263139069080353},{"id":"https://openalex.org/C130693829","wikidata":"https://www.wikidata.org/wiki/Q510786","display_name":"Chromosome 19","level":4,"score":0.42049944400787354},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.30797964334487915},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.2989096939563751},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.2279077172279358},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.20342043042182922},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.18346869945526123},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.11297169327735901}],"mesh":[{"descriptor_ui":"D001315","descriptor_name":"Australia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002170","descriptor_name":"Canada","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002892","descriptor_name":"Chromosomes, Human, Pair 22","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004828","descriptor_name":"Epilepsies, Partial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","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":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011995","descriptor_name":"Recombination, Genetic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018047","descriptor_name":"Receptors, Purinergic P1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018703","descriptor_name":"Founder Effect","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018740","descriptor_name":"Genetic Heterogeneity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019683","descriptor_name":"Penetrance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1086/302649","doi":"https://doi.org/10.1086/302649","is_oa":true,"landing_page_url":"https://doi.org/10.1086/302649","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:1288381","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1288381","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":"Am J Hum Genet","raw_type":"Text"},{"id":"pmid:10577924","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10577924","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":"American journal of human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:dipot.ulb.ac.be:2013/58629","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/58629","pdf_url":null,"source":{"id":"https://openalex.org/S4306401063","display_name":"D\u00e9p\u00f4t institutionnel de l'Universit\u00e9 libre de Bruxelles (Universit\u00e9 Libre de Bruxelles)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I132053463","host_organization_name":"Universit\u00e9 Libre de Bruxelles","host_organization_lineage":["https://openalex.org/I132053463"],"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":"American journal of human genetics, 65 (6","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1086/302649","doi":"https://doi.org/10.1086/302649","is_oa":true,"landing_page_url":"https://doi.org/10.1086/302649","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320319909","display_name":"Savoy Foundation","ror":"https://ror.org/016kmmx43"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":27,"referenced_works":["https://openalex.org/W1484286881","https://openalex.org/W1549470101","https://openalex.org/W1564300268","https://openalex.org/W1965265115","https://openalex.org/W1976741643","https://openalex.org/W1978916811","https://openalex.org/W2005998264","https://openalex.org/W2007292450","https://openalex.org/W2013934087","https://openalex.org/W2022046189","https://openalex.org/W2028179774","https://openalex.org/W2030307932","https://openalex.org/W2031237312","https://openalex.org/W2037174026","https://openalex.org/W2037365191","https://openalex.org/W2037424123","https://openalex.org/W2062477559","https://openalex.org/W2075599910","https://openalex.org/W2089201761","https://openalex.org/W2097285281","https://openalex.org/W2129965590","https://openalex.org/W2130185623","https://openalex.org/W2140573463","https://openalex.org/W2153577199","https://openalex.org/W2157955296","https://openalex.org/W2332142174","https://openalex.org/W4239594659"],"related_works":["https://openalex.org/W2036319194","https://openalex.org/W7029100098","https://openalex.org/W2153577199","https://openalex.org/W1486340313","https://openalex.org/W2111461216","https://openalex.org/W1718812417","https://openalex.org/W2809131","https://openalex.org/W2006849432","https://openalex.org/W3008883304","https://openalex.org/W2028539325"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":8},{"year":2012,"cited_by_count":4}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}