{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T02:31:19Z","timestamp":1777516279689,"version":"3.51.4"},"reference-count":26,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2021,1,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>We aimed to further elucidate the phenotypic spectrum of Tuberous Sclerosis Complex (TSC) depending on genotype.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>A retrospective review of patients seen in the TSC clinic at the Hospital for Sick Children was conducted and the frequency of TSC manifestations was compared based on genotype.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Nineteen-patients had TSC1 mutations, 36 had TSC2 mutations and 11 had no mutation identified (NMI). Patients with TSC2 mutations had a higher frequency of early-onset epilepsy and more frequent systemic manifestations. The NMI group had milder neurologic and systemic manifestations. Our data did not demonstrate that intellectual disability and infantile spasms were more common in TSC2 mutations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>This is the first Canadian pediatric cohort exploring the genotype-phenotype relationship in TSC. We report that some manifestations are more frequent and severe in TSC2 mutations and that NMI may have a milder phenotype. Disease surveillance and counseling should continue regardless of genotype until this is better elucidated.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/2329048x211012817","type":"journal-article","created":{"date-parts":[[2021,5,4]],"date-time":"2021-05-04T05:43:57Z","timestamp":1620107037000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":15,"title":["The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort"],"prefix":"10.1177","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3944-8131","authenticated-orcid":false,"given":"Daad","family":"Alsowat","sequence":"first","affiliation":[{"name":"Epilepsy Program, Division of Pediatric Neurology, Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robyn","family":"Whitney","sequence":"additional","affiliation":[{"name":"Epilepsy Program, Division of Neurology, Department of Pediatrics, McMaster Children\u2019s Hospital, Hamilton, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stacy","family":"Hewson","sequence":"additional","affiliation":[{"name":"Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Puneet","family":"Jain","sequence":"additional","affiliation":[{"name":"Epilepsy Program, Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valerie","family":"Chan","sequence":"additional","affiliation":[{"name":"Epilepsy Program, Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Kabir","sequence":"additional","affiliation":[{"name":"Epilepsy Program, Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimberly","family":"Amburgey","sequence":"additional","affiliation":[{"name":"Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damien","family":"Noone","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathieu","family":"Lemaire","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Pediatrics, The Hospital for Sick Children, 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