{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T07:11:09Z","timestamp":1771830669574,"version":"3.50.1"},"reference-count":16,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T00:00:00Z","timestamp":1771804800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder. Despite established genetic causes, missed or late diagnosis remains common in familial cases. This study reports a familial case of TSC to highlight the diagnostic challenges and evaluate the clinical efficacy of everolimus in managing cutaneous and neurologic symptoms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      The patient presented with refractory seizures, facial angiofibromas, and intellectual disability. Sequencing analysis revealed a mutation in the\n                      <jats:italic>TSC2<\/jats:italic>\n                      gene in both the patient and the mother: c.848 + 281 (IVS9) C &amp;gt; T. No mutation at this site was detected in the father. Following the diagnosis, the patient received treatment with everolimus. A significant reduction in seizure frequency and improvement in facial angiofibromas were observed during the follow-up period.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>A heterozygous splicing mutation in the TSC2 gene was identified, confirming the diagnosis of familial TSC. This case underscores the importance of genetic testing in suspected cases to prevent late diagnosis. Furthermore, our findings support the effectiveness of everolimus as a therapeutic option for alleviating TSC-associated neurological and cutaneous manifestations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2026.1772908","type":"journal-article","created":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T06:43:42Z","timestamp":1771829022000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Late diagnosis and effective everolimus treatment in a familial case of tuberous sclerosis complex: a case report"],"prefix":"10.3389","volume":"17","author":[{"given":"Fang","family":"Dai","sequence":"first","affiliation":[{"name":"College of Chemistry and Material Engineering, Qujing Normal University","place":["Qujing, Yunnan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yulian","family":"Duan","sequence":"additional","affiliation":[{"name":"College of Chemistry and Material Engineering, Qujing Normal University","place":["Qujing, Yunnan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bao-an","family":"Di","sequence":"additional","affiliation":[{"name":"Neurology Department, 920th Hospital of People\u2019s Liberation Army Joint Logistic Support Force","place":["Kunming, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiang","family":"Feng","sequence":"additional","affiliation":[{"name":"Pathology Department, 920th Hospital of People\u2019s Liberation Army Joint Logistic Support Force","place":["Kunming, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Cui","sequence":"additional","affiliation":[{"name":"Pathology Department, 920th Hospital of People\u2019s Liberation Army Joint Logistic Support Force","place":["Kunming, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tao","family":"Lv","sequence":"additional","affiliation":[{"name":"College of Biological Resource and Food Engineering, Qujing Normal University","place":["Qujing, Yunnan, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,2,23]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1097\/gim.0b013e31803068c7","article-title":"Genotype\/Phenotype correlation in 325 individuals referred for a diagnosis of Tuberous sclerosis complex in the United States","volume":"9","author":"Au","year":"2007","journal-title":"Genet. 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