{"id":"https://openalex.org/W2055249397","doi":"https://doi.org/10.1016/j.eplepsyres.2010.02.002","title":"Genomic copy number variations at 17p13.3 and epileptogenesis","display_name":"Genomic copy number variations at 17p13.3 and epileptogenesis","publication_year":2010,"publication_date":"2010-03-15","ids":{"openalex":"https://openalex.org/W2055249397","doi":"https://doi.org/10.1016/j.eplepsyres.2010.02.002","mag":"2055249397","pmid":"https://pubmed.ncbi.nlm.nih.gov/20227246"},"language":"en","primary_location":{"id":"doi:10.1016/j.eplepsyres.2010.02.002","doi":"https://doi.org/10.1016/j.eplepsyres.2010.02.002","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.eplepsyres.2010.02.002","pdf_url":null,"source":{"id":"https://openalex.org/S144140688","display_name":"Epilepsy Research","issn_l":"0920-1211","issn":["0920-1211","1872-6844"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","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":"Epilepsy Research","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/A5022760465","display_name":"Keiko Yamamoto Shimojima","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210136522","display_name":"Tokyo Women's Medical University","ror":"https://ror.org/03kjjhe36","country_code":"JP","type":"education","lineage":["https://openalex.org/I4210136522"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Keiko Shimojima","raw_affiliation_strings":["International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Tokyo, Japan","institution_ids":["https://openalex.org/I4210136522"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048925957","display_name":"Chitose Sugiura","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4588055","display_name":"Tottori University","ror":"https://ror.org/024yc3q36","country_code":"JP","type":"education","lineage":["https://openalex.org/I4588055"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Chitose Sugiura","raw_affiliation_strings":["Division of Child Neurology, Institute of Neurological Science, Faculty of Medicine, Tottori University, Yonago, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Child Neurology, Institute of Neurological Science, Faculty of Medicine, Tottori University, Yonago, Japan","institution_ids":["https://openalex.org/I4588055"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109462156","display_name":"Hiroka Takahashi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210092648","display_name":"National Epilepsy Center","ror":"https://ror.org/00garhy75","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210092648"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hiroka Takahashi","raw_affiliation_strings":["National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan","institution_ids":["https://openalex.org/I4210092648"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102299545","display_name":"Mariko Ikegami","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210092648","display_name":"National Epilepsy Center","ror":"https://ror.org/00garhy75","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210092648"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Mariko Ikegami","raw_affiliation_strings":["National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan","institution_ids":["https://openalex.org/I4210092648"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091286810","display_name":"Yukitoshi Takahashi","orcid":"https://orcid.org/0000-0002-1922-8967","observed_orcids":["https://orcid.org/0000-0002-1922-8967"]},"institutions":[{"id":"https://openalex.org/I4210092648","display_name":"National Epilepsy Center","ror":"https://ror.org/00garhy75","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210092648"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yukitoshi Takahashi","raw_affiliation_strings":["National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan","institution_ids":["https://openalex.org/I4210092648"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104042809","display_name":"Kousaku Ohno","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4588055","display_name":"Tottori University","ror":"https://ror.org/024yc3q36","country_code":"JP","type":"education","lineage":["https://openalex.org/I4588055"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kousaku Ohno","raw_affiliation_strings":["Division of Child Neurology, Institute of Neurological Science, Faculty of Medicine, Tottori University, Yonago, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Child Neurology, Institute of Neurological Science, Faculty of Medicine, Tottori University, Yonago, Japan","institution_ids":["https://openalex.org/I4588055"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010390383","display_name":"Mari Matsuo","orcid":"https://orcid.org/0000-0003-0653-5834","observed_orcids":["https://orcid.org/0000-0003-0653-5834"]},"institutions":[{"id":"https://openalex.org/I4210136522","display_name":"Tokyo Women's Medical University","ror":"https://ror.org/03kjjhe36","country_code":"JP","type":"education","lineage":["https://openalex.org/I4210136522"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Mari Matsuo","raw_affiliation_strings":["Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan","institution_ids":["https://openalex.org/I4210136522"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018819260","display_name":"Kayoko Saito","orcid":"https://orcid.org/0000-0003-2632-0873","observed_orcids":["https://orcid.org/0000-0003-2632-0873"]},"institutions":[{"id":"https://openalex.org/I4210136522","display_name":"Tokyo Women's Medical University","ror":"https://ror.org/03kjjhe36","country_code":"JP","type":"education","lineage":["https://openalex.org/I4210136522"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kayoko Saito","raw_affiliation_strings":["Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan","institution_ids":["https://openalex.org/I4210136522"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5062372349","display_name":"Toshiyuki Yamamoto","orcid":"https://orcid.org/0000-0002-9484-3505","observed_orcids":["https://orcid.org/0000-0002-9484-3505"]},"institutions":[{"id":"https://openalex.org/I4210136522","display_name":"Tokyo Women's Medical University","ror":"https://ror.org/03kjjhe36","country_code":"JP","type":"education","lineage":["https://openalex.org/I4210136522"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Toshiyuki Yamamoto","raw_affiliation_strings":["International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Tokyo, Japan","institution_ids":["https://openalex.org/I4210136522"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5062372349"],"corresponding_institution_ids":["https://openalex.org/I4210136522"],"apc_list":{"value":2880,"currency":"USD","value_usd":2880},"apc_paid":null,"fwci":1.8065,"has_fulltext":false,"cited_by_count":46,"citation_normalized_percentile":{"value":0.85410422,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":98},"biblio":{"volume":"89","issue":"2-3","first_page":"303","last_page":"309"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.7318999767303467,"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"}},"topics":[{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.7318999767303467,"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/T10094","display_name":"Epilepsy research and treatment","score":0.26269999146461487,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.0015999999595806003,"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/17p13-3","display_name":"17p13.3","score":0.9589999914169312},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.8529999852180481},{"id":"https://openalex.org/keywords/epileptogenesis","display_name":"epileptogenesis","score":0.9100000262260437},{"id":"https://openalex.org/keywords/miller-dieker-syndrome","display_name":"Miller-Dieker syndrome","score":0.8920000195503235},{"id":"https://openalex.org/keywords/lis1","display_name":"LIS1","score":0.8870000243186951},{"id":"https://openalex.org/keywords/lissencephaly","display_name":"lissencephaly","score":0.9449999928474426},{"id":"https://openalex.org/keywords/west-syndrome","display_name":"West syndrome","score":0.9789999723434448},{"id":"https://openalex.org/keywords/drug-resistant-epilepsy","display_name":"drug-resistant epilepsy","score":0.796999990940094},{"id":"https://openalex.org/keywords/ywhae","display_name":"YWHAE","score":0.7760000228881836},{"id":"https://openalex.org/keywords/crk","display_name":"Crk","score":0.9909999966621399},{"id":"https://openalex.org/keywords/array-based-comparative-genomic-hybridization","display_name":"array comparative genomic hybridization","score":0.7229999899864197}],"concepts":[{"id":"https://openalex.org/C2780698589","wikidata":"https://www.wikidata.org/wiki/Q1544416","display_name":"Lissencephaly","level":3,"score":0.939682126045227},{"id":"https://openalex.org/C124942203","wikidata":"https://www.wikidata.org/wiki/Q656638","display_name":"Comparative genomic hybridization","level":4,"score":0.8141599893569946},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.734988272190094},{"id":"https://openalex.org/C57236427","wikidata":"https://www.wikidata.org/wiki/Q5382987","display_name":"Epileptogenesis","level":3,"score":0.6764301657676697},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.6603753566741943},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4942622184753418},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.40325838327407837},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.250821590423584},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.16793662309646606},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.13667026162147522}],"mesh":[{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002886","descriptor_name":"Chromosomes, Human, Pair 17","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004569","descriptor_name":"Electroencephalography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008869","descriptor_name":"Microtubule-Associated Proteins","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D008869","descriptor_name":"Microtubule-Associated Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019465","descriptor_name":"Craniofacial Abnormalities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D043203","descriptor_name":"1-Alkyl-2-acetylglycerophosphocholine Esterase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D043203","descriptor_name":"1-Alkyl-2-acetylglycerophosphocholine Esterase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054221","descriptor_name":"Classical Lissencephalies and Subcortical Band Heterotopias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054221","descriptor_name":"Classical Lissencephalies and Subcortical Band Heterotopias","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D054221","descriptor_name":"Classical Lissencephalies and Subcortical Band Heterotopias","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.eplepsyres.2010.02.002","doi":"https://doi.org/10.1016/j.eplepsyres.2010.02.002","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.eplepsyres.2010.02.002","pdf_url":null,"source":{"id":"https://openalex.org/S144140688","display_name":"Epilepsy Research","issn_l":"0920-1211","issn":["0920-1211","1872-6844"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","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":"Epilepsy Research","raw_type":"journal-article"},{"id":"pmid:20227246","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20227246","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":"Epilepsy research","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":19,"referenced_works":["https://openalex.org/W87422297","https://openalex.org/W1992502425","https://openalex.org/W2010018280","https://openalex.org/W2017929785","https://openalex.org/W2019274060","https://openalex.org/W2052221249","https://openalex.org/W2055120544","https://openalex.org/W2062625389","https://openalex.org/W2072052118","https://openalex.org/W2098876907","https://openalex.org/W2123607569","https://openalex.org/W2134901663","https://openalex.org/W2151095779","https://openalex.org/W2151651819","https://openalex.org/W2156001353","https://openalex.org/W2156081018","https://openalex.org/W2159569552","https://openalex.org/W2168713159","https://openalex.org/W2171305478"],"related_works":["https://openalex.org/W1975335508","https://openalex.org/W2608293446","https://openalex.org/W3019453440","https://openalex.org/W2004944757","https://openalex.org/W2328700665","https://openalex.org/W1998542460","https://openalex.org/W4214733515","https://openalex.org/W2315537658","https://openalex.org/W1979126196","https://openalex.org/W4389447424"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":3},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}