{"id":"https://openalex.org/W4416630164","doi":"https://doi.org/10.1186/s13023-025-03975-y","title":"Burden of illness in tuberous sclerosis complex-associated epilepsy: a systematic literature review of epidemiology, health-related quality of life, costs and resource use","display_name":"Burden of illness in tuberous sclerosis complex-associated epilepsy: a systematic literature review of epidemiology, health-related quality of life, costs and resource use","publication_year":2025,"publication_date":"2025-11-25","ids":{"openalex":"https://openalex.org/W4416630164","doi":"https://doi.org/10.1186/s13023-025-03975-y","pmid":"https://pubmed.ncbi.nlm.nih.gov/41291828"},"language":"en","primary_location":{"id":"doi:10.1186/s13023-025-03975-y","doi":"https://doi.org/10.1186/s13023-025-03975-y","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-025-03975-y","pdf_url":"https://link.springer.com/content/pdf/10.1186/s13023-025-03975-y.pdf","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"volume":null,"type":"review","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://link.springer.com/content/pdf/10.1186/s13023-025-03975-y.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5057060013","display_name":"A.M. Furber","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alexandra Furber","raw_affiliation_strings":["Reviews Department, Crystallise Ltd, Colchester, Essex, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Reviews Department, Crystallise Ltd, Colchester, Essex, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066651775","display_name":"Alison Martin","orcid":"https://orcid.org/0000-0003-4660-278X","observed_orcids":["https://orcid.org/0000-0003-4660-278X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alison Martin","raw_affiliation_strings":["Reviews Department, Crystallise Ltd, Colchester, Essex, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Reviews Department, Crystallise Ltd, Colchester, Essex, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029898956","display_name":"Andrea Bertuzzi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Andrea Bertuzzi","raw_affiliation_strings":["Reviews Department, Crystallise Ltd, Colchester, Essex, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Reviews Department, Crystallise Ltd, Colchester, Essex, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009392332","display_name":"Fern Wesson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Fern Wesson","raw_affiliation_strings":["Reviews Department, Crystallise Ltd, Colchester, Essex, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Reviews Department, Crystallise Ltd, Colchester, Essex, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048337634","display_name":"Miranda Harrison","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Miranda Harrison","raw_affiliation_strings":["Jazz Pharmaceuticals UK Ltd, 80 Charlotte Street, London, W1T 4DF, England"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Jazz Pharmaceuticals UK Ltd, 80 Charlotte Street, London, W1T 4DF, England","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035896938","display_name":"Sally Bowditch","orcid":"https://orcid.org/0000-0002-6918-2936","observed_orcids":["https://orcid.org/0000-0002-6918-2936"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sally Bowditch","raw_affiliation_strings":["Jazz Pharmaceuticals UK Ltd, 80 Charlotte Street, London, W1T 4DF, England"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Jazz Pharmaceuticals UK Ltd, 80 Charlotte Street, London, W1T 4DF, England","institution_ids":[]}]},{"author_position":"last","author":{"id":null,"display_name":"Jamshaed Siddiqui","orcid":"https://orcid.org/0009-0004-8251-4829","observed_orcids":["https://orcid.org/0009-0004-8251-4829"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Jamshaed Siddiqui","raw_affiliation_strings":["Jazz Pharmaceuticals UK Ltd, 80 Charlotte Street, London, W1T 4DF, England. Jamshaed.Siddiqui@jazzpharma.com","Jazz Pharmaceuticals UK Ltd, 80 Charlotte Street, London, W1T 4DF, England"],"raw_orcid":"https://orcid.org/0009-0004-8251-4829","affiliations":[{"raw_affiliation_string":"Jazz Pharmaceuticals UK Ltd, 80 Charlotte Street, London, W1T 4DF, England. Jamshaed.Siddiqui@jazzpharma.com","institution_ids":[]},{"raw_affiliation_string":"Jazz Pharmaceuticals UK Ltd, 80 Charlotte Street, London, W1T 4DF, England","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":2990,"currency":"USD","value_usd":2990},"apc_paid":{"value":2990,"currency":"USD","value_usd":2990},"fwci":0.1896,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.44730757,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":96},"biblio":{"volume":"20","issue":"1","first_page":"609","last_page":"609"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12049","display_name":"Tuberous Sclerosis Complex Research","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T12049","display_name":"Tuberous Sclerosis Complex Research","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T10094","display_name":"Epilepsy research and treatment","score":0.000699999975040555,"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/T10804","display_name":"Health Systems, Economic Evaluations, Quality of Life","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2002","display_name":"Economics and Econometrics"},"field":{"id":"https://openalex.org/fields/20","display_name":"Economics, Econometrics and Finance"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/tuberous-sclerosis-complex","display_name":"tuberous sclerosis complex","score":0.9980000257492065},{"id":"https://openalex.org/keywords/disease-burden","display_name":"disease burden","score":0.8679999709129333},{"id":"https://openalex.org/keywords/epilepsy-prevalence","display_name":"epilepsy prevalence","score":0.48899999260902405},{"id":"https://openalex.org/keywords/incidence","display_name":"incidence","score":0.7160000205039978},{"id":"https://openalex.org/keywords/health-related-quality-of-life","display_name":"health-related quality of life","score":0.9480000138282776},{"id":"https://openalex.org/keywords/caregiver-quality-of-life","display_name":"caregiver quality of life","score":0.7699999809265137},{"id":"https://openalex.org/keywords/health-care-costs","display_name":"health care costs","score":0.9150000214576721},{"id":"https://openalex.org/keywords/resource-utilization-health-care","display_name":"resource utilization (health care)","score":0.8650000095367432},{"id":"https://openalex.org/keywords/mortality","display_name":"mortality","score":0.5630000233650208},{"id":"https://openalex.org/keywords/patient-reported-outcomes","display_name":"patient-reported outcomes","score":0.6800000071525574},{"id":"https://openalex.org/keywords/cognitive-impairment","display_name":"cognitive impairment","score":0.7229999899864197},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.878000020980835},{"id":"https://openalex.org/keywords/drug-resistant-epilepsy","display_name":"drug-resistant epilepsy","score":0.703000009059906},{"id":"https://openalex.org/keywords/children-and-adults","display_name":"children and adults","score":0.5189999938011169},{"id":"https://openalex.org/keywords/treatment-patterns","display_name":"treatment patterns","score":0.503000020980835},{"id":"https://openalex.org/keywords/hospitalization","display_name":"hospitalization","score":0.531000018119812},{"id":"https://openalex.org/keywords/physician-visits","display_name":"physician visits","score":0.9179999828338623}],"concepts":[{"id":"https://openalex.org/C189708586","wikidata":"https://www.wikidata.org/wiki/Q1504425","display_name":"Systematic review","level":3,"score":0.7383999824523926},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7269999980926514},{"id":"https://openalex.org/C2778980267","wikidata":"https://www.wikidata.org/wiki/Q1362721","display_name":"Tuberous sclerosis","level":2,"score":0.6585000157356262},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.5917999744415283},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.49959999322891235},{"id":"https://openalex.org/C107130276","wikidata":"https://www.wikidata.org/wiki/Q133805","display_name":"Epidemiology","level":2,"score":0.4984999895095825},{"id":"https://openalex.org/C3017409249","wikidata":"https://www.wikidata.org/wiki/Q23582796","display_name":"Resource use","level":2,"score":0.4713999927043915},{"id":"https://openalex.org/C2779530757","wikidata":"https://www.wikidata.org/wiki/Q1207505","display_name":"Quality (philosophy)","level":2,"score":0.4404999911785126},{"id":"https://openalex.org/C206345919","wikidata":"https://www.wikidata.org/wiki/Q20380951","display_name":"Resource (disambiguation)","level":2,"score":0.3991999924182892},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.3950999975204468},{"id":"https://openalex.org/C2779951463","wikidata":"https://www.wikidata.org/wiki/Q7268788","display_name":"Quality of life (healthcare)","level":2,"score":0.3695000112056732},{"id":"https://openalex.org/C24756922","wikidata":"https://www.wikidata.org/wiki/Q1757694","display_name":"Data quality","level":3,"score":0.3671000003814697},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.3587000072002411},{"id":"https://openalex.org/C2779974597","wikidata":"https://www.wikidata.org/wiki/Q28448986","display_name":"Clinical Practice","level":2,"score":0.33390000462532043},{"id":"https://openalex.org/C3018989441","wikidata":"https://www.wikidata.org/wiki/Q691640","display_name":"Quality of evidence","level":3,"score":0.3319999873638153},{"id":"https://openalex.org/C95190672","wikidata":"https://www.wikidata.org/wiki/Q815382","display_name":"Meta-analysis","level":2,"score":0.2825999855995178},{"id":"https://openalex.org/C3020001037","wikidata":"https://www.wikidata.org/wiki/Q836575","display_name":"Quality assessment","level":3,"score":0.2712000012397766},{"id":"https://openalex.org/C204787440","wikidata":"https://www.wikidata.org/wiki/Q188504","display_name":"Alternative medicine","level":2,"score":0.267300009727478},{"id":"https://openalex.org/C2777466982","wikidata":"https://www.wikidata.org/wiki/Q5227287","display_name":"Data extraction","level":3,"score":0.2621000111103058},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.257099986076355},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.25099998712539673}],"mesh":[{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000191","qualifier_name":"economics","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000191","qualifier_name":"economics","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000191","qualifier_name":"economics","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000191","qualifier_name":"economics","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000191","qualifier_name":"economics","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000191","qualifier_name":"economics","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D006801","descriptor_name":"Humans","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":"D006801","descriptor_name":"Humans","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":"D011788","descriptor_name":"Quality of Life","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011788","descriptor_name":"Quality of Life","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011788","descriptor_name":"Quality of Life","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011788","descriptor_name":"Quality of Life","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011788","descriptor_name":"Quality of Life","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011788","descriptor_name":"Quality of Life","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000191","qualifier_name":"economics","is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000191","qualifier_name":"economics","is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000191","qualifier_name":"economics","is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000191","qualifier_name":"economics","is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000191","qualifier_name":"economics","is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000191","qualifier_name":"economics","is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D014402","descriptor_name":"Tuberous Sclerosis","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D017281","descriptor_name":"Cost of Illness","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017281","descriptor_name":"Cost of Illness","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017281","descriptor_name":"Cost of Illness","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017281","descriptor_name":"Cost of Illness","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017281","descriptor_name":"Cost of Illness","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017281","descriptor_name":"Cost of Illness","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1186/s13023-025-03975-y","doi":"https://doi.org/10.1186/s13023-025-03975-y","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-025-03975-y","pdf_url":"https://link.springer.com/content/pdf/10.1186/s13023-025-03975-y.pdf","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},{"id":"pmid:41291828","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41291828","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":"Orphanet journal of rare diseases","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:88fbfc6c69c64d9586bc682b9a2e804a","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/88fbfc6c69c64d9586bc682b9a2e804a","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-24 (2025)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/s13023-025-03975-y","doi":"https://doi.org/10.1186/s13023-025-03975-y","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-025-03975-y","pdf_url":"https://link.springer.com/content/pdf/10.1186/s13023-025-03975-y.pdf","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/systematic-review","display_name":"Systematic Review"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320312570","display_name":"Jazz Pharmaceuticals","ror":"https://ror.org/055mhsv54"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4416630164.pdf","grobid_xml":"https://content.openalex.org/works/W4416630164.grobid-xml"},"referenced_works_count":124,"referenced_works":["https://openalex.org/W49689790","https://openalex.org/W1004226437","https://openalex.org/W1483729933","https://openalex.org/W1574898460","https://openalex.org/W1581893277","https://openalex.org/W1886173374","https://openalex.org/W1886226115","https://openalex.org/W1963759649","https://openalex.org/W1970917345","https://openalex.org/W1984730073","https://openalex.org/W1989119346","https://openalex.org/W2001362250","https://openalex.org/W2006764475","https://openalex.org/W2009763836","https://openalex.org/W2012045377","https://openalex.org/W2014377355","https://openalex.org/W2019814282","https://openalex.org/W2023938987","https://openalex.org/W2030765095","https://openalex.org/W2032091926","https://openalex.org/W2035694213","https://openalex.org/W2039918425","https://openalex.org/W2041842123","https://openalex.org/W2046018239","https://openalex.org/W2047497461","https://openalex.org/W2049776717","https://openalex.org/W2059454232","https://openalex.org/W2059979683","https://openalex.org/W2061738888","https://openalex.org/W2062000411","https://openalex.org/W2081488482","https://openalex.org/W2095502840","https://openalex.org/W2113741689","https://openalex.org/W2116180053","https://openalex.org/W2119976276","https://openalex.org/W2123154725","https://openalex.org/W2129071898","https://openalex.org/W2145360633","https://openalex.org/W2148209723","https://openalex.org/W2162084088","https://openalex.org/W2168505209","https://openalex.org/W2186456796","https://openalex.org/W2268219510","https://openalex.org/W2302206662","https://openalex.org/W2310318921","https://openalex.org/W2313170589","https://openalex.org/W2409087928","https://openalex.org/W2470905933","https://openalex.org/W2548532955","https://openalex.org/W2560747241","https://openalex.org/W2560846802","https://openalex.org/W2569230786","https://openalex.org/W2608937503","https://openalex.org/W2616266704","https://openalex.org/W2618612696","https://openalex.org/W2729218203","https://openalex.org/W2735320637","https://openalex.org/W2748168699","https://openalex.org/W2762457043","https://openalex.org/W2763793094","https://openalex.org/W2766770744","https://openalex.org/W2767643369","https://openalex.org/W2884747888","https://openalex.org/W2889034483","https://openalex.org/W2891220665","https://openalex.org/W2897462938","https://openalex.org/W2918023219","https://openalex.org/W2919423514","https://openalex.org/W2937817163","https://openalex.org/W2944459267","https://openalex.org/W2945803454","https://openalex.org/W2955335741","https://openalex.org/W2963246619","https://openalex.org/W2980937486","https://openalex.org/W2982258872","https://openalex.org/W2982862638","https://openalex.org/W2994921815","https://openalex.org/W3000086324","https://openalex.org/W3006015449","https://openalex.org/W3022229340","https://openalex.org/W3029247367","https://openalex.org/W3042521334","https://openalex.org/W3045552855","https://openalex.org/W3082389495","https://openalex.org/W3084302212","https://openalex.org/W3084904392","https://openalex.org/W3091642811","https://openalex.org/W3092638556","https://openalex.org/W3103554383","https://openalex.org/W3110233892","https://openalex.org/W3112958925","https://openalex.org/W3115167315","https://openalex.org/W3139267035","https://openalex.org/W3141731687","https://openalex.org/W3153772839","https://openalex.org/W3160616241","https://openalex.org/W3165259732","https://openalex.org/W3173830795","https://openalex.org/W3174708687","https://openalex.org/W3176623726","https://openalex.org/W3177296884","https://openalex.org/W3179683710","https://openalex.org/W3185262542","https://openalex.org/W3186046354","https://openalex.org/W3186573778","https://openalex.org/W3197208979","https://openalex.org/W3197870687","https://openalex.org/W3206686128","https://openalex.org/W4200589986","https://openalex.org/W4206152869","https://openalex.org/W4220941796","https://openalex.org/W4281480894","https://openalex.org/W4288967381","https://openalex.org/W4304080484","https://openalex.org/W4319655716","https://openalex.org/W4364361492","https://openalex.org/W4379508115","https://openalex.org/W4385664796","https://openalex.org/W4386209405","https://openalex.org/W4386273730","https://openalex.org/W4386739096","https://openalex.org/W4388637070","https://openalex.org/W4388982234","https://openalex.org/W4389437584"],"related_works":[],"abstract_inverted_index":{"BACKGROUND:":[0],"Tuberous":[1],"sclerosis":[2],"complex":[3],"(TSC)":[4],"is":[5,36,50,215],"a":[6,20,61,76,158,181,293],"rare":[7],"genetic":[8],"disorder":[9],"resulting":[10],"in":[11,13,58,65,109,180,308],"hamartomas":[12],"multiple":[14],"organs,":[15],"causing":[16],"varied":[17],"manifestations":[18],"with":[19,113,209,264,270],"substantial":[21],"burden":[22],"of":[23,33,40,45,55,78,92,95,161,183,187,220,258,288,295,328,339],"illness":[24],"(BOI)":[25],"for":[26,342],"patients":[27,96,269],"and":[28,81,97,101,106,120,122,135,169,185,189,200,223,235,249,253,256,285,310,331,345,349],"caregivers.":[29],"A":[30],"significant":[31],"component":[32],"the":[34,37,56,66,218,224,265,278,282,326,337,346],"BOI":[35,57,214,279,306,338],"high":[38],"prevalence":[39,170,297],"TSC-associated":[41,59,176,210,228,289,340],"epilepsy.":[42,211,290],"The":[43,212],"objective":[44],"this":[46,323],"systematic":[47],"literature":[48],"review":[49,68,276,324],"to":[51,84,335],"provide":[52],"an":[53],"overview":[54],"epilepsy,":[60],"focus":[62],"not":[63],"reported":[64,179,213],"recent":[67,296],"by":[69,281],"Z\u00f6llner":[70],"et":[71],"al.":[72],"(2020).":[73],"METHODS:":[74],"Following":[75],"search":[77],"major":[79],"databases":[80],"congress":[82],"sites":[83],"April":[85],"2023,":[86],"published":[87],"studies":[88,129],"covering":[89],"epidemiology,":[90],"quality":[91],"life":[93],"(QOL)":[94],"their":[98],"caregivers,":[99],"direct":[100],"indirect":[102,234],"costs,":[103],"resource":[104,242],"use":[105,243],"treatment":[107],"patterns":[108],"children":[110],"and/or":[111],"adults":[112,188,309],"TSC":[114,124,162,271],"were":[115,126,130,143,178],"included.":[116],"Studies":[117],"on":[118,251,312],"efficacy":[119],"safety,":[121],"non-neurological":[123],"manifestations,":[125],"excluded.":[127],"Relevant":[128,146],"manually":[131],"reviewed,":[132],"double":[133],"screened":[134],"summarised/synthesised.":[136],"No":[137],"statistical":[138,304],"analyses":[139],"or":[140,268],"bias":[141],"assessments":[142],"conducted.":[144],"RESULTS:":[145],"articles":[147],"(n":[148],"=":[149],"241)":[150],"included":[151],"182":[152],"reporting":[153],"global":[154],"epidemiology":[155],"data,":[156],"revealing":[157],"wide":[159],"range":[160],"incidence":[163],"per":[164,171],"100,000":[165,172],"live":[166],"births":[167],"(0.153-17.24)":[168],"general":[173],"population":[174,267],"(0.6-12.7).":[175],"seizures":[177,229],"mean":[182],"64.1%":[184],"79.8%":[186],"children,":[190],"respectively.":[191],"Patient-reported":[192],"outcome":[193],"(PRO)":[194],"tools":[195],"indicated":[196],"that":[197],"cognitive":[198],"impairment":[199],"neuropsychiatric":[201],"disorders":[202],"(e.g.":[203,238,244],"autism":[204],"spectrum":[205],"disorder)":[206],"frequently":[207],"occur":[208],"substantial,":[216],"impacting":[217],"QOL":[219],"patients,":[221,343],"caregivers":[222,344],"wider":[225,313,347],"family.":[226],"Additionally,":[227],"negatively":[230],"impact":[231,250,311],"QOL,":[232],"elevate":[233],"healthcare":[236],"costs":[237],"\u00a314,335":[239],"vs":[240,261],"\u00a34,448),":[241],"hospital":[245],"admissions,":[246],"physician":[247],"visits":[248],"patients'":[252],"caregivers'":[254],"careers)":[255],"risk":[257],"mortality":[259],"(7.53%":[260],"3.68%)":[262],"compared":[263],"healthy":[266],"without":[272],"seizures.":[273],"CONCLUSION:":[274],"This":[275],"summarises":[277],"caused":[280],"early":[283,329],"onset":[284],"refractory":[286],"nature":[287],"Limitations":[291],"include":[292],"lack":[294],"data":[298,307,319],"(>":[299],"2016),":[300],"standardised":[301],"PROs,":[302],"formal":[303],"analysis,":[305],"family":[314],"QOL.":[315],"More":[316],"robust":[317],"epidemiological":[318],"are":[320],"needed.":[321],"Nevertheless,":[322],"supports":[325],"importance":[327],"identification":[330],"effective":[332],"seizure":[333],"management":[334],"improve":[336],"epilepsy":[341],"family,":[348],"society.":[350]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-10-14T16:39:01.820549","created_date":"2025-11-25T00:00:00"}