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Updated Genotype-Phenotype Correlations in TSC.
Curatolo P, Trivisano M, Specchio N. Curatolo P, et al. Semin Pediatr Neurol. 2023 Oct;47:101086. doi: 10.1016/j.spen.2023.101086. Epub 2023 Sep 18. Semin Pediatr Neurol. 2023. PMID: 37919037 Review.
Paolo Curatolo MD, Romina Moavero MD, Denis Roberto, Federica Graziola Seminars in Pediatric Neurology Volume 22, Issue 4, December 2015, Pages 259-273 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of wide …
Paolo Curatolo MD, Romina Moavero MD, Denis Roberto, Federica Graziola Seminars in Pediatric Neurology Volume 22, Issue 4, December 2 …
Genotype/Phenotype Correlations in Tuberous Sclerosis Complex.
Curatolo P, Moavero R, Roberto D, Graziola F. Curatolo P, et al. Semin Pediatr Neurol. 2015 Dec;22(4):259-73. doi: 10.1016/j.spen.2015.10.002. Epub 2015 Oct 21. Semin Pediatr Neurol. 2015. PMID: 26706013 Review.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of widespread hamartomatous lesions in various organs, including brain, skin, kidneys, heart, and eyes. ...They respectively encode for hamartin and tuberin, w …
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of widespread hamartomatou …
Diagnosis and Treatment of Tuberous Sclerosis Manifestations in Children: A Multicenter Study.
Flotats-Bastardas M, Ebrahimi-Fakhari D, Gortner L, Poryo M, Zemlin M, Macaya-Ruiz A, Meyer S. Flotats-Bastardas M, et al. Neuropediatrics. 2018 Jun;49(3):193-199. doi: 10.1055/s-0038-1637738. Epub 2018 Mar 20. Neuropediatrics. 2018. PMID: 29558773
Tuberous sclerosis complex (TSC) is a genetic disease with a significant morbidity and mortality. ...A definite diagnosis was made in 52 patients (96%), and a possible diagnosis was made in 2 patients (4%). Thirty-four (63%) patients were from HVH and 20 (37%) from …
Tuberous sclerosis complex (TSC) is a genetic disease with a significant morbidity and mortality. ...A definite diagnosis was made in …
Sirolimus treatment for tuberous sclerosis complex prior to epilepsy: Evidence from a registry-based real-world study.
Shen YW, Wang YY, Zhang MN, Xu Y, Lu Q, He W, Chen HM, Liu LY, Pang LY, Wang QH, Dun S, Li YF, Gao J, Han F, Zou LP. Shen YW, et al. Seizure. 2022 Apr;97:23-31. doi: 10.1016/j.seizure.2022.03.003. Epub 2022 Mar 8. Seizure. 2022. PMID: 35286974 Free article.
OBJECTIVE: To evaluate whether sirolimus treatment could relieve the later burden of new-onset seizures in patients with tuberous sclerosis complex (TSC) prior to epilepsy. METHODS: A real-world matched case-control study was nested in another registry cohort study. ...Age …
OBJECTIVE: To evaluate whether sirolimus treatment could relieve the later burden of new-onset seizures in patients with tuberous sclerosis …
Nursing implications for the lifelong management of tuberous sclerosis complex.
Agricola K, Tudor C, Krueger D, Franz DN. Agricola K, et al. J Neurosci Nurs. 2013 Aug;45(4):226-42. doi: 10.1097/JNN.0b013e3182986146. J Neurosci Nurs. 2013. PMID: 23812052 Review.
Tuberous sclerosis complex (TSC) is a genetic disorder that can affect multiple organ systems, including the brain, heart, skin, kidney, and lung, by formation of benign hamartomas. ...Mutations to either the TSC1 (coding for hamartin) or TSC2 (coding for tuberin) g …
Tuberous sclerosis complex (TSC) is a genetic disorder that can affect multiple organ systems, including the brain, heart, ski …
Involvement of mental health professionals in the treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND): results of a multinational European electronic survey.
Waltereit R, Beaure d'Augères G, Jancic J, Kingswood JC, Koleva M, Marques R, Villanueva V, Auvin S. Waltereit R, et al. Orphanet J Rare Dis. 2021 May 12;16(1):216. doi: 10.1186/s13023-021-01800-w. Orphanet J Rare Dis. 2021. PMID: 33980296 Free PMC article.
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare, genetic, multisystem disorder characterized by the growth of hamartomas in several organs, including the brain, kidneys, heart, eyes, and lungs. ...Of the 96 HCPs who participated, most were neurologists (61.5% …
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare, genetic, multisystem disorder characterized by the growth of hamartomas in se …
Targeting the EGFR pathway: An alternative strategy for the treatment of tuberous sclerosis complex?
Schachenhofer J, Gruber VE, Fehrer SV, Haider C, Glatter S, Liszewska E, Höftberger R, Aronica E, Rössler K, Jaworski J, Scholl T, Feucht M. Schachenhofer J, et al. Neuropathol Appl Neurobiol. 2024 Apr;50(2):e12974. doi: 10.1111/nan.12974. Neuropathol Appl Neurobiol. 2024. PMID: 38562027
AIMS: Observation of EGFR expression in SEGA, CT and focal cortical dysplasia (FCD) 2B human brain specimen and investigation of whether its inhibition could be a potential therapeutic intervention for these patients. ...CONCLUSION: Our study demonstra …
AIMS: Observation of EGFR expression in SEGA, CT and focal cortical dysplasia (FCD) 2B human brain specimen and investi …
Surgical treatment of epilepsy in tuberous sclerosis: strategies and results in 18 patients.
Guerreiro MM, Andermann F, Andermann E, Palmini A, Hwang P, Hoffman HJ, Otsubo H, Bastos A, Dubeau F, Snipes GJ, Olivier A, Rasmussen T. Guerreiro MM, et al. Neurology. 1998 Nov;51(5):1263-9. doi: 10.1212/wnl.51.5.1263. Neurology. 1998. PMID: 9818843
OBJECTIVE: To review the results of investigation and surgical therapy, a treatment modality not generally considered in patients with medically refractory seizures and TSC. ...This may be possible even when other tubers or diffuse EEG abnormalities are present. In …
OBJECTIVE: To review the results of investigation and surgical therapy, a treatment modality not generally considered in patients wit …