{"id":"https://openalex.org/W2013420982","doi":"https://doi.org/10.1038/nn1999","title":"Masking epilepsy by combining two epilepsy genes","display_name":"Masking epilepsy by combining two epilepsy genes","publication_year":2007,"publication_date":"2007-11-04","ids":{"openalex":"https://openalex.org/W2013420982","doi":"https://doi.org/10.1038/nn1999","mag":"2013420982","pmid":"https://pubmed.ncbi.nlm.nih.gov/17982453"},"language":"en","primary_location":{"id":"doi:10.1038/nn1999","doi":"https://doi.org/10.1038/nn1999","is_oa":false,"landing_page_url":"https://doi.org/10.1038/nn1999","pdf_url":null,"source":{"id":"https://openalex.org/S2298632","display_name":"Nature Neuroscience","issn_l":"1097-6256","issn":["1097-6256","1546-1726"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","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 Neuroscience","raw_type":"journal-article"},"volume":null,"type":"article","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/A5091105956","display_name":"Edward Glasscock","orcid":"https://orcid.org/0000-0001-8702-2349","observed_orcids":["https://orcid.org/0000-0001-8702-2349"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Edward Glasscock","raw_affiliation_strings":["Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA","Departments of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, 77030, Texas, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA","institution_ids":["https://openalex.org/I181547552"]},{"raw_affiliation_string":"Departments of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, 77030, Texas, USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001637232","display_name":"Jing Qian","orcid":"https://orcid.org/0000-0001-6120-5147","observed_orcids":["https://orcid.org/0000-0001-6120-5147"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jing Qian","raw_affiliation_strings":["Departments of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, 77030, Texas, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, 77030, Texas, USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111850902","display_name":"Jong W. Yoo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jong W Yoo","raw_affiliation_strings":["Departments of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, 77030, Texas, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, 77030, Texas, USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5023059517","display_name":"Jeffrey L. Noebels","orcid":"https://orcid.org/0000-0002-2887-0839","observed_orcids":["https://orcid.org/0000-0002-2887-0839"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Jeffrey L Noebels","raw_affiliation_strings":["Departments of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, 77030, Texas, USA","Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, 77030, Texas, USA","Neuroscience, Baylor College of Medicine, One Baylor Plaza, Houston, 77030, Texas, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, 77030, Texas, USA","institution_ids":["https://openalex.org/I181547552"]},{"raw_affiliation_string":"Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, 77030, Texas, USA","institution_ids":["https://openalex.org/I181547552"]},{"raw_affiliation_string":"Neuroscience, Baylor College of Medicine, One Baylor Plaza, Houston, 77030, Texas, USA","institution_ids":["https://openalex.org/I181547552"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5023059517"],"corresponding_institution_ids":["https://openalex.org/I181547552"],"apc_list":{"value":12690,"currency":"USD","value_usd":12690},"apc_paid":null,"fwci":11.4547,"has_fulltext":false,"cited_by_count":175,"citation_normalized_percentile":{"value":0.99023112,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":95,"max":99},"biblio":{"volume":"10","issue":"12","first_page":"1554","last_page":"1558"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.9458000063896179,"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":0.9458000063896179,"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/T10493","display_name":"Ion channel regulation and function","score":0.05119999870657921,"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/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/idiopathic-epilepsy","display_name":"idiopathic epilepsy","score":0.972000002861023},{"id":"https://openalex.org/keywords/digenic-inheritance","display_name":"digenic inheritance","score":0.7440000176429749},{"id":"https://openalex.org/keywords/ion-channel-mutations","display_name":"ion channel mutations","score":0.765999972820282},{"id":"https://openalex.org/keywords/kcna1","display_name":"KCNA1","score":0.9290000200271606},{"id":"https://openalex.org/keywords/shaker-potassium-channel","display_name":"Shaker potassium channel","score":0.7379999756813049},{"id":"https://openalex.org/keywords/cacna1a","display_name":"CACNA1A","score":0.996999979019165},{"id":"https://openalex.org/keywords/absence-epilepsy","display_name":"absence epilepsy","score":0.5730000138282776},{"id":"https://openalex.org/keywords/limbic-seizures","display_name":"limbic seizures","score":0.9570000171661377},{"id":"https://openalex.org/keywords/sudden-unexpected-death-in-epilepsy","display_name":"sudden unexpected death in epilepsy","score":0.7289999723434448},{"id":"https://openalex.org/keywords/network-excitability","display_name":"network excitability","score":0.8289999961853027},{"id":"https://openalex.org/keywords/axonal-excitability","display_name":"axonal excitability","score":0.9100000262260437},{"id":"https://openalex.org/keywords/genetic-risk-prediction","display_name":"genetic risk prediction","score":0.6710000038146973},{"id":"https://openalex.org/keywords/mouse-model","display_name":"mouse model","score":0.722000002861023}],"concepts":[{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.8785735368728638},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.703656017780304},{"id":"https://openalex.org/C2777989426","wikidata":"https://www.wikidata.org/wiki/Q2936142","display_name":"Channelopathy","level":2,"score":0.554044246673584},{"id":"https://openalex.org/C57236427","wikidata":"https://www.wikidata.org/wiki/Q5382987","display_name":"Epileptogenesis","level":3,"score":0.5390021800994873},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5326972007751465},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.5230318307876587},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.49581870436668396},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.48058295249938965},{"id":"https://openalex.org/C50254741","wikidata":"https://www.wikidata.org/wiki/Q62536","display_name":"Ion channel","level":3,"score":0.44880396127700806},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4483437240123749},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4401470422744751},{"id":"https://openalex.org/C2778734009","wikidata":"https://www.wikidata.org/wiki/Q55785625","display_name":"Epilepsy syndromes","level":3,"score":0.41762933135032654},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.4112253785133362},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.10371139645576477}],"mesh":[{"descriptor_ui":"D000367","descriptor_name":"Age Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002121","descriptor_name":"Calcium Channel Blockers","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D004195","descriptor_name":"Disease Models, Animal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004558","descriptor_name":"Electric Stimulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004569","descriptor_name":"Electroencephalography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000401","qualifier_name":"mortality","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D006624","descriptor_name":"Hippocampus","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D006624","descriptor_name":"Hippocampus","qualifier_ui":"Q000528","qualifier_name":"radiation effects","is_major_topic":false},{"descriptor_ui":"D008564","descriptor_name":"Membrane Potentials","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D008564","descriptor_name":"Membrane Potentials","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008564","descriptor_name":"Membrane Potentials","qualifier_ui":"Q000528","qualifier_name":"radiation effects","is_major_topic":false},{"descriptor_ui":"D008810","descriptor_name":"Mice, Inbred C57BL","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008822","descriptor_name":"Mice, Transgenic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D009415","descriptor_name":"Nerve Net","qualifier_ui":"Q000187","qualifier_name":"drug effects","is_major_topic":false},{"descriptor_ui":"D009415","descriptor_name":"Nerve Net","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D009415","descriptor_name":"Nerve Net","qualifier_ui":"Q000528","qualifier_name":"radiation effects","is_major_topic":false},{"descriptor_ui":"D011189","descriptor_name":"Potassium Chloride","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D015763","descriptor_name":"2-Amino-5-phosphonovalerate","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D018691","descriptor_name":"Excitatory Amino Acid Antagonists","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D020864","descriptor_name":"Calcium Channels, N-Type","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020865","descriptor_name":"Calcium Channels, P-Type","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020867","descriptor_name":"omega-Agatoxin IVA","qualifier_ui":"Q000494","qualifier_name":"pharmacology","is_major_topic":false},{"descriptor_ui":"D020907","descriptor_name":"Calcium Channels, Q-Type","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051662","descriptor_name":"Kv1.1 Potassium Channel","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D066298","descriptor_name":"In Vitro Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1038/nn1999","doi":"https://doi.org/10.1038/nn1999","is_oa":false,"landing_page_url":"https://doi.org/10.1038/nn1999","pdf_url":null,"source":{"id":"https://openalex.org/S2298632","display_name":"Nature Neuroscience","issn_l":"1097-6256","issn":["1097-6256","1546-1726"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","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 Neuroscience","raw_type":"journal-article"},{"id":"pmid:17982453","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17982453","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 neuroscience","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8560000061988831,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G3042222519","display_name":"Multidisciplinary Training in Brain Disorders and Development","funder_award_id":"T32NS043124","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G3945135279","display_name":null,"funder_award_id":"NS43124","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G898849880","display_name":null,"funder_award_id":"NS29709","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G9000873367","display_name":"Excitability and Plasticity of Developing Epileptic Brain","funder_award_id":"R01NS029709","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"}],"funders":[{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":25,"referenced_works":["https://openalex.org/W1869285569","https://openalex.org/W1905378438","https://openalex.org/W1935182457","https://openalex.org/W1971505882","https://openalex.org/W1975919464","https://openalex.org/W1996824414","https://openalex.org/W2009074935","https://openalex.org/W2032194648","https://openalex.org/W2032950588","https://openalex.org/W2042289944","https://openalex.org/W2055179387","https://openalex.org/W2055850859","https://openalex.org/W2062699991","https://openalex.org/W2080501570","https://openalex.org/W2084683281","https://openalex.org/W2085779097","https://openalex.org/W2089458125","https://openalex.org/W2102037126","https://openalex.org/W2103096084","https://openalex.org/W2114230130","https://openalex.org/W2114891381","https://openalex.org/W2122308686","https://openalex.org/W2123466824","https://openalex.org/W2128988164","https://openalex.org/W2137422943"],"related_works":["https://openalex.org/W1732671973","https://openalex.org/W2095752584","https://openalex.org/W2365540244","https://openalex.org/W1976515134","https://openalex.org/W2443753118","https://openalex.org/W1991289683","https://openalex.org/W1964220613","https://openalex.org/W2137488648","https://openalex.org/W2064222470","https://openalex.org/W2046956276"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":10},{"year":2023,"cited_by_count":8},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":11},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":9},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":13},{"year":2014,"cited_by_count":10},{"year":2013,"cited_by_count":7},{"year":2012,"cited_by_count":12}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}