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Quoted phrase not found in phrase index: "Cortical dysplasia, complex, with other brain malformations 12"
Page 1
Treatment of Renal Angiomyolipoma and Other Hamartomas in Patients with Tuberous Sclerosis Complex.
Samuels JA. Samuels JA. Clin J Am Soc Nephrol. 2017 Jul 7;12(7):1196-1202. doi: 10.2215/CJN.08150816. Epub 2017 Mar 16. Clin J Am Soc Nephrol. 2017. PMID: 28302901 Free PMC article. Review.
Tuberous sclerosis complex is an autosomal dominant genetic disease characterized by growth of benign tumors (hamartomas) in multiple organs, especially the kidneys, brain, heart, lungs, and skin. ...Clinical evidence suggests that systemic administration of …
Tuberous sclerosis complex is an autosomal dominant genetic disease characterized by growth of benign tumors (hamartomas) in multiple …
Pilot study evaluating everolimus molecular mechanisms in tuberous sclerosis complex and focal cortical dysplasia.
Leitner DF, Kanshin E, Askenazi M, Siu Y, Friedman D, Devore S, Jones D, Ueberheide B, Wisniewski T, Devinsky O. Leitner DF, et al. PLoS One. 2022 May 19;17(5):e0268597. doi: 10.1371/journal.pone.0268597. eCollection 2022. PLoS One. 2022. PMID: 35587487 Free PMC article.
BACKGROUND: Tuberous sclerosis complex (TSC) and some focal cortical dysplasias (FCDs) are associated with dysfunctional mTOR signaling, resulting in increased cell growth and ribosomal S6 protein phosphorylation (phospho-S6). mTOR inhibitors can reduce TSC tumor gr …
BACKGROUND: Tuberous sclerosis complex (TSC) and some focal cortical dysplasias (FCDs) are associated with dysfunctional mTOR …
Everolimus tablets for patients with subependymal giant cell astrocytoma.
Turner SG, Peters KB, Vredenburgh JJ, Desjardins A, Friedman HS, Reardon DA. Turner SG, et al. Expert Opin Pharmacother. 2011 Oct;12(14):2265-9. doi: 10.1517/14656566.2011.601742. Epub 2011 Aug 1. Expert Opin Pharmacother. 2011. PMID: 21806479 Free PMC article. Review.
INTRODUCTION: Better understanding of aberrantly active molecular pathways in tumors offers potential to develop more specific and less toxic therapies. Abnormal mammalian target of rapamycin (mTOR) complex signaling and defects in TSC1 and TSC2 have been associated with t …
INTRODUCTION: Better understanding of aberrantly active molecular pathways in tumors offers potential to develop more specific and less toxi …
Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex.
Levine A, Davis P, Zhang B, Peters J, Filip-Dhima R, Warfield SK, Prohl A, Capal J, Krueger D, Bebin EM, Northrup H, Wu JY, Sahin M; TACERN Study Group. Levine A, et al. Pediatr Neurol. 2023 Jul;144:26-32. doi: 10.1016/j.pediatrneurol.2023.03.015. Epub 2023 Mar 29. Pediatr Neurol. 2023. PMID: 37119787
BACKGROUND: Abnormal brain growth in tuberous sclerosis complex (TSC) reflects abnormalities in cellular proliferation and differentiation and results in epilepsy and other neurological manifestations. Head circumference (HC) as a proxy for brain volum …
BACKGROUND: Abnormal brain growth in tuberous sclerosis complex (TSC) reflects abnormalities in cellular proliferation …
Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature.
Zöllner JP, Grau J, Rosenow F, Sauter M, Knuf M, Kurlemann G, Mayer T, Hertzberg C, Bertsche A, Immisch I, Klein KM, Knake S, Marquard K, Meyer S, Noda AH, von Podewils F, Schäfer H, Thiels C, Willems LM, Zukunft B, Schubert-Bast S, Strzelczyk A. Zöllner JP, et al. Orphanet J Rare Dis. 2021 Jun 2;16(1):250. doi: 10.1186/s13023-021-01838-w. Orphanet J Rare Dis. 2021. PMID: 34078440 Free PMC article. Review.
BACKGROUND: Tuberous sclerosis complex (TSC) is a monogenetic, multisystem disorder characterized by benign growths due to TSC1 or TSC2 mutations. ...RESULTS: We enrolled 192 adults with TSC (mean age: 33.4 12.7 years; range: 18-78 years, 51.6% [n = 99] women). Repo …
BACKGROUND: Tuberous sclerosis complex (TSC) is a monogenetic, multisystem disorder characterized by benign growths due to TSC1 or TS …
A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex.
Overwater IE, Rietman AB, Mous SE, Bindels-de Heus K, Rizopoulos D, Ten Hoopen LW, van der Vaart T, Jansen FE, Elgersma Y, Moll HA, de Wit MY; ENCORE Expertise Centre for Neurodevelopmental Disorders. Overwater IE, et al. Neurology. 2019 Jul 9;93(2):e200-e209. doi: 10.1212/WNL.0000000000007749. Epub 2019 Jun 19. Neurology. 2019. PMID: 31217257 Clinical Trial.
OBJECTIVE: To investigate whether mammalian target of rapamycin inhibitor everolimus can improve intellectual disability, autism, and other neuropsychological deficits in children with tuberous sclerosis complex (TSC). METHODS: In this 12-month, randomized, d …
OBJECTIVE: To investigate whether mammalian target of rapamycin inhibitor everolimus can improve intellectual disability, autism, and other …
Surgery for tuberous sclerosis complex-related epilepsy: Risk factors for an unfavorable seizure outcome.
d'Orio P, Pelliccia V, Biondi D, Scarpa P, Gozzo F, Revay M, Cardinale F, Tassi L, Cossu M. d'Orio P, et al. Seizure. 2022 Apr;97:8-14. doi: 10.1016/j.seizure.2022.02.013. Epub 2022 Feb 27. Seizure. 2022. PMID: 35247673 Free article.
PURPOSE: This study aimed to identify risk factors of postoperative seizure outcome in a consecutive cohort of patients operated on for TSC-related focal epilepsy, by evaluating several presurgical and surgical variables, including also MRI-visible brain abnormalities …
PURPOSE: This study aimed to identify risk factors of postoperative seizure outcome in a consecutive cohort of patients operated on for TSC- …
Epileptic spasms in tuberous sclerosis complex.
Hsieh DT, Jennesson MM, Thiele EA. Hsieh DT, et al. Epilepsy Res. 2013 Sep;106(1-2):200-10. doi: 10.1016/j.eplepsyres.2013.05.003. Epub 2013 Jun 21. Epilepsy Res. 2013. PMID: 23796861
METHODS: The authors retrospectively reviewed 19 patients with TSC and ES. Medical records were assessed for clinical and treatment data, neurocognitive, EEG, MRI data, and genetic analyses. ...All concurrently had other seizure types. One had hypsarrhythmia on EEG. All ha …
METHODS: The authors retrospectively reviewed 19 patients with TSC and ES. Medical records were assessed for clinical and treatment d …
Tuberous sclerosis complex in adulthood: focus on epilepsy prognosis.
Licchetta L, Bruschi G, Stipa C, Belotti LMB, Ferri L, Mostacci B, Vignatelli L, Minardi R, Di Vito L, Muccioli L, Boni A, Tinuper P, Bisulli F. Licchetta L, et al. Epilepsy Behav. 2024 Apr;153:109688. doi: 10.1016/j.yebeh.2024.109688. Epub 2024 Feb 29. Epilepsy Behav. 2024. PMID: 38428171
We analyzed the clinical and genetic features of a cohort of adult patients with TSC, to identify the prognostic predictors of seizure remission after a long follow-up. ...RESULTS: We selected 43 patients with TSC and neurological involvement in terms of epilepsy and/or …
We analyzed the clinical and genetic features of a cohort of adult patients with TSC, to identify the prognostic predictors of seizur …
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. Infant …
OBJECTIVE: To evaluate whether sirolimus treatment could relieve the later burden of new-onset seizures in patients with tuberous sclerosis …
20 results