{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T15:20:51Z","timestamp":1781191251686,"version":"3.54.1"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,1,13]],"date-time":"2015-01-13T00:00:00Z","timestamp":1421107200000},"content-version":"vor","delay-in-days":43,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:p>To date, only a few studies have reported that, in tuberous sclerosis, <jats:italic>TSC2<\/jats:italic> mutations are more frequently associated with infantile spasms and cognitive impairment compared to <jats:italic>TSC1<\/jats:italic> mutations. We analyzed the mutational spectrum of patients with tuberous sclerosis in Korea and attempted to explore the associations between genotype and seizure type\/outcome. We performed mutational analyses on 70 unrelated patients with clinically confirmed tuberous sclerosis by using direct DNA sequencing and\/or multiplex ligation\u2010dependent probe amplification. The patients\u2019 medical records, including epilepsy type and outcome, were reviewed retrospectively. We identified pathogenic mutations in 55 patients (79%), 25 of which were novel. There were 12 <jats:italic>TSC1<\/jats:italic> mutations and 43 <jats:italic>TSC2<\/jats:italic> mutations. <jats:italic>TSC1<\/jats:italic> mutations included 8 frameshift and 4 nonsense mutations. <jats:italic>TSC2<\/jats:italic> mutations included 12 frameshift, 10 nonsense, 6 splicing, and 6 missense mutations, as well as 4 in\u2010frame deletions and 5 large deletions. Fifty\u2010eight patients had epilepsy (83%), including 19 patients with a history of infantile spasms. Compared to patients with <jats:italic>TSC1<\/jats:italic> mutations, individuals with <jats:italic>TSC2<\/jats:italic> mutations had a significantly higher frequency of epilepsy (<jats:italic>p<\/jats:italic>&lt;0.05) and tended to have a higher frequency of infantile spasms (37% vs 17%; <jats:italic>p<\/jats:italic>&lt;0.3). Most of the patients with <jats:italic>TSC2<\/jats:italic> mutations who developed infantile spasms exhibited subsequent epilepsy (13\/14; 93%). However, the presence\/absence of infantile spasms did not influence seizure remission or cognitive outcome.<\/jats:p>","DOI":"10.1684\/epd.2014.0712","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"page":"449-455","source":"Crossref","is-referenced-by-count":13,"title":["Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy"],"prefix":"10.1002","volume":"16","author":[{"given":"Jin Sook","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byung Chan","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong\u2010Hee","family":"Chae","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong Seung","family":"Hwang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moon\u2010Woo","family":"Seong","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Seoul National University Hospital  Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung Sup","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Seoul National University Hospital  Seoul 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