{"id":"https://openalex.org/W4390260652","doi":"https://doi.org/10.1016/j.jns.2023.121518","title":"Patients with epileptic encephalopathy due to mutation in the SCN1A gene - from antecedents to clinical and laboratory findings","display_name":"Patients with epileptic encephalopathy due to mutation in the SCN1A gene - from antecedents to clinical and laboratory findings","publication_year":2023,"publication_date":"2023-12-01","ids":{"openalex":"https://openalex.org/W4390260652","doi":"https://doi.org/10.1016/j.jns.2023.121518"},"language":"en","primary_location":{"id":"doi:10.1016/j.jns.2023.121518","doi":"https://doi.org/10.1016/j.jns.2023.121518","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jns.2023.121518","pdf_url":"https://www.jns-journal.com/article/S0022-510X(23)00979-6/pdf","source":{"id":"https://openalex.org/S169054600","display_name":"Journal of the Neurological Sciences","issn_l":"0022-510X","issn":["0022-510X","1878-5883"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","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":"Journal of the Neurological Sciences","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.jns-journal.com/article/S0022-510X(23)00979-6/pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5014714880","display_name":"J\u00falia Corr\u00eaa Campos Maia","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I150729083","display_name":"Universidade de Bras\u00edlia","ror":"https://ror.org/02xfp8v59","country_code":"BR","type":"education","lineage":["https://openalex.org/I150729083"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Julia Maia","raw_affiliation_strings":["University of Brasilia (UNB), Medical Student, Brasilia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Brasilia (UNB), Medical Student, Brasilia, Brazil","institution_ids":["https://openalex.org/I150729083"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087231505","display_name":"Alan Marra","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I150729083","display_name":"Universidade de Bras\u00edlia","ror":"https://ror.org/02xfp8v59","country_code":"BR","type":"education","lineage":["https://openalex.org/I150729083"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Alan Marra","raw_affiliation_strings":["University of Brasilia (UNB), Medical Student, Brasilia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Brasilia (UNB), Medical Student, Brasilia, Brazil","institution_ids":["https://openalex.org/I150729083"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104220426","display_name":"Luisa Amorim","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I150729083","display_name":"Universidade de Bras\u00edlia","ror":"https://ror.org/02xfp8v59","country_code":"BR","type":"education","lineage":["https://openalex.org/I150729083"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Luisa Amorim","raw_affiliation_strings":["University of Brasilia (UNB), Department of Pediatrics, Brasilia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Brasilia (UNB), Department of Pediatrics, Brasilia, Brazil","institution_ids":["https://openalex.org/I150729083"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102597550","display_name":"Denis Ferreira Dos Santos","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Denis Ferreira Dos Santos","raw_affiliation_strings":["Sobradinho Regional Hospital, Neurology, Brasilia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sobradinho Regional Hospital, Neurology, Brasilia, Brazil","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5102019665","display_name":"Lisiane Seguti Ferreira","orcid":"https://orcid.org/0000-0001-7037-1585","observed_orcids":["https://orcid.org/0000-0001-7037-1585"]},"institutions":[{"id":"https://openalex.org/I150729083","display_name":"Universidade de Bras\u00edlia","ror":"https://ror.org/02xfp8v59","country_code":"BR","type":"education","lineage":["https://openalex.org/I150729083"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Lisiane Seguti Ferreira","raw_affiliation_strings":["University of Brasilia (UNB), Department of Pediatrics, Brasilia, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Brasilia (UNB), Department of Pediatrics, Brasilia, Brazil","institution_ids":["https://openalex.org/I150729083"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3530,"currency":"USD","value_usd":3530},"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.26042748,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"455","issue":null,"first_page":"121518","last_page":"121518"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.9961000084877014,"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":0.9961000084877014,"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":0.0005000000237487257,"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/epileptic-encephalopathy","display_name":"epileptic encephalopathy","score":0.9929999709129333},{"id":"https://openalex.org/keywords/scn1a","display_name":"SCN1A","score":0.7870000004768372},{"id":"https://openalex.org/keywords/sodium-channel-mutations","display_name":"sodium channel mutations","score":0.8550000190734863},{"id":"https://openalex.org/keywords/genetic-epilepsy","display_name":"genetic epilepsy","score":0.6079999804496765},{"id":"https://openalex.org/keywords/clinical-characteristics","display_name":"clinical features","score":0.625},{"id":"https://openalex.org/keywords/laboratory-findings","display_name":"laboratory findings","score":0.875},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.722000002861023}],"concepts":[{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.6753494739532471},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5425525307655334},{"id":"https://openalex.org/C2778621155","wikidata":"https://www.wikidata.org/wiki/Q576349","display_name":"Encephalopathy","level":2,"score":0.49374136328697205},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4318183958530426},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.37488991022109985},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.3694148361682892},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.3659617304801941},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.3588308095932007},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.35448938608169556},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.21603012084960938}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.jns.2023.121518","doi":"https://doi.org/10.1016/j.jns.2023.121518","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jns.2023.121518","pdf_url":"https://www.jns-journal.com/article/S0022-510X(23)00979-6/pdf","source":{"id":"https://openalex.org/S169054600","display_name":"Journal of the Neurological Sciences","issn_l":"0022-510X","issn":["0022-510X","1878-5883"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","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":"Journal of the Neurological Sciences","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1016/j.jns.2023.121518","doi":"https://doi.org/10.1016/j.jns.2023.121518","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jns.2023.121518","pdf_url":"https://www.jns-journal.com/article/S0022-510X(23)00979-6/pdf","source":{"id":"https://openalex.org/S169054600","display_name":"Journal of the Neurological Sciences","issn_l":"0022-510X","issn":["0022-510X","1878-5883"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","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":"Journal of the Neurological Sciences","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4390260652.pdf","grobid_xml":"https://content.openalex.org/works/W4390260652.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2017656428","https://openalex.org/W2737826051","https://openalex.org/W4238662137","https://openalex.org/W3173912938","https://openalex.org/W2590647787","https://openalex.org/W2882999534","https://openalex.org/W2779504933","https://openalex.org/W1567812138","https://openalex.org/W2161770484","https://openalex.org/W2049236303"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-26T11:51:55.731654","created_date":"2023-12-28T00:00:00"}
