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Quoted phrase not found in phrase index: "Cortical dysplasia, complex, with other brain malformations 10"
Page 1
Tuberous Sclerosis Complex.
Islam MP. Islam MP. Semin Pediatr Neurol. 2021 Apr;37:100875. doi: 10.1016/j.spen.2021.100875. Epub 2021 Feb 11. Semin Pediatr Neurol. 2021. PMID: 33892851 Review.
Affecting approximately 1 per 6000-10,000 individuals, tuberous sclerosis complex (TSC) is a neurocutaneous disorder that is not only uncommon but at risk to go underrecognized. Similar to other phakomatoses, TSC is a disorder of cellular proliferation and migration …
Affecting approximately 1 per 6000-10,000 individuals, tuberous sclerosis complex (TSC) is a neurocutaneous disorder that is n …
Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.
Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O'Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V; GWPCARE6 Study Group. Thiele EA, et al. JAMA Neurol. 2021 Mar 1;78(3):285-292. doi: 10.1001/jamaneurol.2020.4607. JAMA Neurol. 2021. PMID: 33346789 Free PMC article. Clinical Trial.
The most common adverse events were diarrhea (placebo group, 19 [25%]; CBD25 group, 23 [31%]; CBD50 group, 41 [56%]) and somnolence (placebo group, 7 [9%]; CBD25 group, 10 [13%]; CBD50 group, 19 [26%]), which occurred more frequently with cannabidiol than placebo. Eight pa …
The most common adverse events were diarrhea (placebo group, 19 [25%]; CBD25 group, 23 [31%]; CBD50 group, 41 [56%]) and somnolence (placebo …
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
PURPOSE: The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. ...CONCLUSION: Loss of the C-terminal of MED subunit 11 may aff …
PURPOSE: The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in diff …
Epilepsy in neurofibromatosis type 1.
Pecoraro A, Arehart E, Gallentine W, Radtke R, Smith E, Pizoli C, Kansagra S, Abdelnour E, McLendon R, Mikati MA. Pecoraro A, et al. Epilepsy Behav. 2017 Aug;73:137-141. doi: 10.1016/j.yebeh.2017.05.011. Epub 2017 Jul 18. Epilepsy Behav. 2017. PMID: 28633092
Three of the six patients with MTS underwent temporal lobectomy with subsequent control of their seizures with confirmation of MTS on pathology in 3/3 and presence of coexisting focal cortical dysplasia (FCD) in 2/3. We also have observed three additional patients o …
Three of the six patients with MTS underwent temporal lobectomy with subsequent control of their seizures with confirmation of MTS on pathol …
Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference.
Sahin M, Henske EP, Manning BD, Ess KC, Bissler JJ, Klann E, Kwiatkowski DJ, Roberds SL, Silva AJ, Hillaire-Clarke CS, Young LR, Zervas M, Mamounas LA; Tuberous Sclerosis Complex Working Group to Update the Research Plan. Sahin M, et al. Pediatr Neurol. 2016 Jul;60:1-12. doi: 10.1016/j.pediatrneurol.2016.03.015. Epub 2016 Apr 2. Pediatr Neurol. 2016. PMID: 27267556 Free PMC article.
On March 10 to March 12, 2015, the National Institute of Neurological Disorders and Stroke and the Tuberous Sclerosis Alliance sponsored a workshop in Bethesda, Maryland, to assess progress and new opportunities for research in tuberous sclerosis complex with the go …
On March 10 to March 12, 2015, the National Institute of Neurological Disorders and Stroke and the Tuberous Sclerosis Alliance sponso …
Introduction to phacomatoses (neurocutaneous disorders) in childhood.
Ruggieri M, Polizzi A, Marceca GP, Catanzaro S, Praticò AD, Di Rocco C. Ruggieri M, et al. Childs Nerv Syst. 2020 Oct;36(10):2229-2268. doi: 10.1007/s00381-020-04758-5. Epub 2020 Sep 17. Childs Nerv Syst. 2020. PMID: 32940773
Phacomatoses are a heterogeneous group of conditions (mainly) affecting the skin (with congenital pigmentary/vascular abnormalities and/or tumours), the central and peripheral nervous system (with congenital abnormalities and/or tumours) and the eye (w …
Phacomatoses are a heterogeneous group of conditions (mainly) affecting the skin (with congenital pigmentary/vascular abnormalitie …
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, double-blind, p …
OBJECTIVE: To investigate whether mammalian target of rapamycin inhibitor everolimus can improve intellectual disability, autism, and other …
Rapamycin and rapalogs for tuberous sclerosis complex.
Sasongko TH, Ismail NF, Zabidi-Hussin Z. Sasongko TH, et al. Cochrane Database Syst Rev. 2016 Jul 13;7(7):CD011272. doi: 10.1002/14651858.CD011272.pub2. Cochrane Database Syst Rev. 2016. PMID: 27409709 Free PMC article. Updated. Review.
Food and Drug Administration) and the EMA (European Medicines Agency) for tuberous sclerosis complex-associated renal angiomyolipoma and subependymal giant cell astrocytoma, applications for other manifestations of tuberous sclerosis complex have not yet been establ …
Food and Drug Administration) and the EMA (European Medicines Agency) for tuberous sclerosis complex-associated renal angiomyolipoma …
Fetal neurosonography as accurate tool for diagnosis of brain involvement in tuberous sclerosis.
Malinger G, Prabhu A, Maroto González A, Brusilov M, Kidron D, Amster R, Birnbaum R, Krajden Haratz K. Malinger G, et al. Ultrasound Obstet Gynecol. 2023 Sep;62(3):391-397. doi: 10.1002/uog.26213. Ultrasound Obstet Gynecol. 2023. PMID: 37021742
OBJECTIVE: To demonstrate the potential utility of dedicated neurosonography for the diagnosis of fetal brain involvement in tuberous sclerosis complex. METHODS: This was a multicenter retrospective study of fetuses at high risk for tuberous sclerosis complex …
OBJECTIVE: To demonstrate the potential utility of dedicated neurosonography for the diagnosis of fetal brain involvement in tuberous …
Predictors and Long-term Outcome of Resective Epilepsy Surgery in Patients with Tuberous Sclerosis Complex: A Single-centre Retrospective Cohort Study.
Huang Q, Zhou J, Wang X, Li T, Wang M, Wang J, Teng P, Qi X, Zhu M, Luan G, Zhai F. Huang Q, et al. Seizure. 2021 May;88:45-52. doi: 10.1016/j.seizure.2021.03.022. Epub 2021 Mar 25. Seizure. 2021. PMID: 33812307 Free article.
OBJECTIVE: To identify prognostic factors and long-term seizure outcomes for patients with tuberous sclerosis complex (TSC) who underwent resective treatment for epilepsy. METHODS: We enrolled 81 patients with TSC who had undergone resective epilepsy surgery at Sanbo Br …
OBJECTIVE: To identify prognostic factors and long-term seizure outcomes for patients with tuberous sclerosis complex (TSC) who under …
33 results