{"id":"https://openalex.org/W2093544934","doi":"https://doi.org/10.1016/j.biochi.2013.02.006","title":"SCN1AIVS5-91G>A polymorphism is associated with susceptibility to epilepsy but not with drug responsiveness","display_name":"SCN1AIVS5-91G>A polymorphism is associated with susceptibility to epilepsy but not with drug responsiveness","publication_year":2013,"publication_date":"2013-03-02","ids":{"openalex":"https://openalex.org/W2093544934","doi":"https://doi.org/10.1016/j.biochi.2013.02.006","mag":"2093544934","pmid":"https://pubmed.ncbi.nlm.nih.gov/23466530"},"language":"en","primary_location":{"id":"doi:10.1016/j.biochi.2013.02.006","doi":"https://doi.org/10.1016/j.biochi.2013.02.006","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.biochi.2013.02.006","pdf_url":null,"source":{"id":"https://openalex.org/S75247133","display_name":"Biochimie","issn_l":"0037-9042","issn":["0037-9042","0300-9084","1638-6183"],"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-100","russia-white-list-2"],"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":"Biochimie","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/A5109899469","display_name":"Ritu Kumari","orcid":"https://orcid.org/0009-0002-4418-8407","observed_orcids":["https://orcid.org/0009-0002-4418-8407"]},"institutions":[{"id":"https://openalex.org/I161370692","display_name":"Sanjay Gandhi Post Graduate Institute of Medical Sciences","ror":"https://ror.org/01rsgrz10","country_code":"IN","type":"facility","lineage":["https://openalex.org/I161370692"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Ritu Kumari","raw_affiliation_strings":["Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, India","institution_ids":["https://openalex.org/I161370692"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014245166","display_name":"Ram Lakhan","orcid":"https://orcid.org/0000-0002-5267-5195","observed_orcids":["https://orcid.org/0000-0002-5267-5195"]},"institutions":[{"id":"https://openalex.org/I161370692","display_name":"Sanjay Gandhi Post Graduate Institute of Medical Sciences","ror":"https://ror.org/01rsgrz10","country_code":"IN","type":"facility","lineage":["https://openalex.org/I161370692"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Ram Lakhan","raw_affiliation_strings":["Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, India","institution_ids":["https://openalex.org/I161370692"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110529570","display_name":"Surendra Kumar","orcid":"https://orcid.org/0009-0009-1596-8835","observed_orcids":["https://orcid.org/0009-0009-1596-8835"]},"institutions":[{"id":"https://openalex.org/I161370692","display_name":"Sanjay Gandhi Post Graduate Institute of Medical Sciences","ror":"https://ror.org/01rsgrz10","country_code":"IN","type":"facility","lineage":["https://openalex.org/I161370692"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Surendra Kumar","raw_affiliation_strings":["Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, India","institution_ids":["https://openalex.org/I161370692"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044112149","display_name":"Ravindra Kumar Garg","orcid":"https://orcid.org/0000-0003-0044-7083","observed_orcids":["https://orcid.org/0000-0003-0044-7083","https://orcid.org/0000-0002-5564-8037"]},"institutions":[{"id":"https://openalex.org/I280994","display_name":"King George's Medical University","ror":"https://ror.org/00gvw6327","country_code":"IN","type":"education","lineage":["https://openalex.org/I280994"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"R.K. Garg","raw_affiliation_strings":["Department of Neurology, King George's Medical University, Lucknow 226003, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, King George's Medical University, Lucknow 226003, India","institution_ids":["https://openalex.org/I280994"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068453714","display_name":"Usha Kant Misra","orcid":"https://orcid.org/0000-0002-7317-957X","observed_orcids":["https://orcid.org/0000-0002-7317-957X"]},"institutions":[{"id":"https://openalex.org/I161370692","display_name":"Sanjay Gandhi Post Graduate Institute of Medical Sciences","ror":"https://ror.org/01rsgrz10","country_code":"IN","type":"facility","lineage":["https://openalex.org/I161370692"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"U.K. Misra","raw_affiliation_strings":["Department of Neurology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, India","institution_ids":["https://openalex.org/I161370692"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021445348","display_name":"Jayantee Kalita","orcid":"https://orcid.org/0000-0002-6141-3592","observed_orcids":["https://orcid.org/0000-0002-6141-3592"]},"institutions":[{"id":"https://openalex.org/I161370692","display_name":"Sanjay Gandhi Post Graduate Institute of Medical Sciences","ror":"https://ror.org/01rsgrz10","country_code":"IN","type":"facility","lineage":["https://openalex.org/I161370692"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"J. Kalita","raw_affiliation_strings":["Department of Neurology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, India","institution_ids":["https://openalex.org/I161370692"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108082159","display_name":"Balraj Mittal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I161370692","display_name":"Sanjay Gandhi Post Graduate Institute of Medical Sciences","ror":"https://ror.org/01rsgrz10","country_code":"IN","type":"facility","lineage":["https://openalex.org/I161370692"]}],"countries":["IN"],"is_corresponding":true,"raw_author_name":"Balraj Mittal","raw_affiliation_strings":["Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, India","institution_ids":["https://openalex.org/I161370692"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5108082159"],"corresponding_institution_ids":["https://openalex.org/I161370692"],"apc_list":{"value":3110,"currency":"USD","value_usd":3110},"apc_paid":null,"fwci":2.8874,"has_fulltext":false,"cited_by_count":34,"citation_normalized_percentile":{"value":0.90606036,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"95","issue":"6","first_page":"1350","last_page":"1353"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.9940999746322632,"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":0.9940999746322632,"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":0.004399999976158142,"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/T12229","display_name":"Pharmacological Effects and Toxicity Studies","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/scn1a","display_name":"SCN1A","score":0.9729999899864197},{"id":"https://openalex.org/keywords/epilepsy-susceptibility","display_name":"epilepsy susceptibility","score":0.9459999799728394},{"id":"https://openalex.org/keywords/antiepileptic-drug-resistance","display_name":"antiepileptic drug resistance","score":0.8050000071525574},{"id":"https://openalex.org/keywords/carbamazepine","display_name":"carbamazepine","score":0.9739999771118164},{"id":"https://openalex.org/keywords/oxcarbazepine","display_name":"oxcarbazepine","score":1.0},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7540000081062317},{"id":"https://openalex.org/keywords/sodium-channel-alpha-subunit","display_name":"sodium channel alpha subunit","score":0.7049999833106995},{"id":"https://openalex.org/keywords/case-only-analysis","display_name":"case-only analysis","score":0.5270000100135803},{"id":"https://openalex.org/keywords/recessive-model","display_name":"recessive model","score":0.5270000100135803},{"id":"https://openalex.org/keywords/monotherapy","display_name":"monotherapy","score":0.4410000145435333}],"concepts":[{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.7162767648696899},{"id":"https://openalex.org/C2780035454","wikidata":"https://www.wikidata.org/wiki/Q8386","display_name":"Drug","level":2,"score":0.5772812962532043},{"id":"https://openalex.org/C149737253","wikidata":"https://www.wikidata.org/wiki/Q3240252","display_name":"Polymorphism (computer science)","level":4,"score":0.5662991404533386},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.49646836519241333},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.3914218544960022},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3887254595756531},{"id":"https://openalex.org/C98274493","wikidata":"https://www.wikidata.org/wiki/Q128406","display_name":"Pharmacology","level":1,"score":0.356706827878952},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.31024056673049927},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.2702981233596802},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.15566805005073547},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.08393999934196472}],"mesh":[{"descriptor_ui":"D000927","descriptor_name":"Anticonvulsants","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":true},{"descriptor_ui":"D004351","descriptor_name":"Drug Resistance","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","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":"D005838","descriptor_name":"Genotype","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":"D007194","descriptor_name":"India","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":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D060888","descriptor_name":"Real-Time Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D062550","descriptor_name":"NAV1.1 Voltage-Gated Sodium Channel","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.biochi.2013.02.006","doi":"https://doi.org/10.1016/j.biochi.2013.02.006","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.biochi.2013.02.006","pdf_url":null,"source":{"id":"https://openalex.org/S75247133","display_name":"Biochimie","issn_l":"0037-9042","issn":["0037-9042","0300-9084","1638-6183"],"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-100","russia-white-list-2"],"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":"Biochimie","raw_type":"journal-article"},{"id":"pmid:23466530","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23466530","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":"Biochimie","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320320720","display_name":"Indian Council of Medical Research","ror":"https://ror.org/0492wrx28"},{"id":"https://openalex.org/F4320326656","display_name":"Department of Biotechnology, Government of West Bengal","ror":"https://ror.org/03k93wc57"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":24,"referenced_works":["https://openalex.org/W1536976287","https://openalex.org/W1836397409","https://openalex.org/W1963897559","https://openalex.org/W1997957185","https://openalex.org/W2003634197","https://openalex.org/W2030775506","https://openalex.org/W2034638577","https://openalex.org/W2036319194","https://openalex.org/W2051324262","https://openalex.org/W2063288921","https://openalex.org/W2075399115","https://openalex.org/W2077047903","https://openalex.org/W2091801726","https://openalex.org/W2107104883","https://openalex.org/W2118094114","https://openalex.org/W2137702351","https://openalex.org/W2138349051","https://openalex.org/W2141865456","https://openalex.org/W2142660615","https://openalex.org/W2152491568","https://openalex.org/W2154853726","https://openalex.org/W2165232112","https://openalex.org/W2165237915","https://openalex.org/W6638774034"],"related_works":["https://openalex.org/W2003634197","https://openalex.org/W2037185803","https://openalex.org/W2402193370","https://openalex.org/W4406317349","https://openalex.org/W2109353065","https://openalex.org/W7095166534","https://openalex.org/W2900707379","https://openalex.org/W1506542347","https://openalex.org/W2040020627","https://openalex.org/W1536976287"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":3}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}