These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
22. mTOR Hyperactivity Levels Influence the Severity of Epilepsy and Associated Neuropathology in an Experimental Model of Tuberous Sclerosis Complex and Focal Cortical Dysplasia. Nguyen LH; Mahadeo T; Bordey A J Neurosci; 2019 Apr; 39(14):2762-2773. PubMed ID: 30700531 [TBL] [Abstract][Full Text] [Related]
23. MTOR pathway in focal cortical dysplasia type 2: What do we know? Majolo F; Marinowic DR; Machado DC; Da Costa JC Epilepsy Behav; 2018 Aug; 85():157-163. PubMed ID: 29945038 [TBL] [Abstract][Full Text] [Related]
24. Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb. Honke J; Hoffmann L; Coras R; Kobow K; Leu C; Pieper T; Hartlieb T; Bien CG; Woermann F; Cloppenborg T; Kalbhenn T; Gaballa A; Hamer H; Brandner S; Rössler K; Dörfler A; Rampp S; Lemke JR; Baldassari S; Baulac S; Lal D; Nürnberg P; Blümcke I Acta Neuropathol Commun; 2023 Nov; 11(1):179. PubMed ID: 37946310 [TBL] [Abstract][Full Text] [Related]
25. The clinico-pathological characterisation of focal cortical dysplasia type IIb genetically defined by MTOR mosaicism. Wang Y; Yu T; Blümcke I; Cai Y; Sun K; Gao R; Wang Y; Fu Y; Wang W; Wang Y; Zhang G; Piao Y Neuropathol Appl Neurobiol; 2023 Feb; 49(1):e12874. PubMed ID: 36544434 [TBL] [Abstract][Full Text] [Related]
26. Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy. Salinas V; Vega P; Piccirilli MV; Chicco C; Ciraolo C; Christiansen S; Consalvo D; Perez-Maturo J; Medina N; González-Morón D; Novaro V; Perrone C; García MDC; Agosta G; Silva W; Kauffman M Eur J Med Genet; 2019 Nov; 62(11):103571. PubMed ID: 30414531 [TBL] [Abstract][Full Text] [Related]
27. Dysregulation of NEUROG2 plays a key role in focal cortical dysplasia. Avansini SH; Torres FR; Vieira AS; Dogini DB; Rogerio F; Coan AC; Morita ME; Guerreiro MM; Yasuda CL; Secolin R; Carvalho BS; Borges MG; Almeida VS; Araújo PAOR; Queiroz L; Cendes F; Lopes-Cendes I Ann Neurol; 2018 Mar; 83(3):623-635. PubMed ID: 29461643 [TBL] [Abstract][Full Text] [Related]
28. Similar PDK1-AKT-mTOR pathway activation in balloon cells and dysmorphic neurons of type II focal cortical dysplasia with refractory epilepsy. Lin YX; Lin K; Kang DZ; Liu XX; Wang XF; Zheng SF; Yu LH; Lin ZY Epilepsy Res; 2015 May; 112():137-49. PubMed ID: 25847349 [TBL] [Abstract][Full Text] [Related]
29. Aberrant adenosine signaling in patients with focal cortical dysplasia. Guo M; Zhang J; Wang J; Wang X; Gao Q; Tang C; Deng J; Xiong Z; Kong X; Guan Y; Zhou J; Boison D; Luan G; Li T Mol Neurobiol; 2023 Aug; 60(8):4396-4417. PubMed ID: 37103687 [TBL] [Abstract][Full Text] [Related]
30. Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. D'Gama AM; Woodworth MB; Hossain AA; Bizzotto S; Hatem NE; LaCoursiere CM; Najm I; Ying Z; Yang E; Barkovich AJ; Kwiatkowski DJ; Vinters HV; Madsen JR; Mathern GW; Blümcke I; Poduri A; Walsh CA Cell Rep; 2017 Dec; 21(13):3754-3766. PubMed ID: 29281825 [TBL] [Abstract][Full Text] [Related]
32. Targeting the Mammalian Target of Rapamycin for Epileptic Encephalopathies and Malformations of Cortical Development. Jeong A; Wong M J Child Neurol; 2018 Jan; 33(1):55-63. PubMed ID: 29246093 [TBL] [Abstract][Full Text] [Related]
33. Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. Nakashima M; Saitsu H; Takei N; Tohyama J; Kato M; Kitaura H; Shiina M; Shirozu H; Masuda H; Watanabe K; Ohba C; Tsurusaki Y; Miyake N; Zheng Y; Sato T; Takebayashi H; Ogata K; Kameyama S; Kakita A; Matsumoto N Ann Neurol; 2015 Sep; 78(3):375-86. PubMed ID: 26018084 [TBL] [Abstract][Full Text] [Related]
34. Notch signaling in human iPS-derived neuronal progenitor lines from Focal Cortical Dysplasia patients. Majolo F; Marinowic DR; Machado DC; Da Costa JC Int J Dev Neurosci; 2018 Oct; 69():112-118. PubMed ID: 30048676 [TBL] [Abstract][Full Text] [Related]
35. Somatic variants in new candidate genes identified in focal cortical dysplasia type II. Zhang Z; Gao K; Liu Q; Zhou J; Li X; Lang N; Liu M; Wang T; Zhang J; Wang H; Dong Y; Ji T; Wang S; Liu X; Jiang Y; Cai L; Wu Y Epilepsia; 2020 Apr; 61(4):667-678. PubMed ID: 32216069 [TBL] [Abstract][Full Text] [Related]
36. Oxidative stress and inflammation in a spectrum of epileptogenic cortical malformations: molecular insights into their interdependence. Arena A; Zimmer TS; van Scheppingen J; Korotkov A; Anink JJ; Mühlebner A; Jansen FE; van Hecke W; Spliet WG; van Rijen PC; Vezzani A; Baayen JC; Idema S; Iyer AM; Perluigi M; Mills JD; van Vliet EA; Aronica E Brain Pathol; 2019 May; 29(3):351-365. PubMed ID: 30303592 [TBL] [Abstract][Full Text] [Related]
37. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. D'Gama AM; Geng Y; Couto JA; Martin B; Boyle EA; LaCoursiere CM; Hossain A; Hatem NE; Barry BJ; Kwiatkowski DJ; Vinters HV; Barkovich AJ; Shendure J; Mathern GW; Walsh CA; Poduri A Ann Neurol; 2015 Apr; 77(4):720-5. PubMed ID: 25599672 [TBL] [Abstract][Full Text] [Related]
38. Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies. Ferri L; Menghi V; Licchetta L; Dimartino P; Minardi R; Davì C; Di Vito L; Cifaldi E; Zenesini C; Gozzo F; Pelliccia V; Mariani V; de Spelorzi YCC; Gustincich S; Seri M; Tassi L; Pippucci T; Bisulli F Epilepsy Behav; 2024 Apr; 153():109716. PubMed ID: 38508103 [TBL] [Abstract][Full Text] [Related]
39. [Activation of mTOR in maldeveloped balloon cells and dysmorphic neurons of type II focal cortical dysplasia]. Lin K; Lin YX; Kang DZ; Ye ZX; Wang XF Zhonghua Bing Li Xue Za Zhi; 2013 May; 42(5):311-5. PubMed ID: 24004587 [TBL] [Abstract][Full Text] [Related]
40. A brain somatic RHEB doublet mutation causes focal cortical dysplasia type II. Zhao S; Li Z; Zhang M; Zhang L; Zheng H; Ning J; Wang Y; Wang F; Zhang X; Gan H; Wang Y; Zhang X; Luo H; Bu G; Xu H; Yao Y; Zhang YW Exp Mol Med; 2019 Jul; 51(7):1-11. PubMed ID: 31337748 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]