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.
2. 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]
4. Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy. Pelorosso C; Watrin F; Conti V; Buhler E; Gelot A; Yang X; Mei D; McEvoy-Venneri J; Manent JB; Cetica V; Ball LL; Buccoliero AM; Vinck A; Barba C; Gleeson JG; Guerrini R; Represa A Hum Mol Genet; 2019 Nov; 28(22):3755-3765. PubMed ID: 31411685 [TBL] [Abstract][Full Text] [Related]
5. Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. Lim JS; Kim WI; Kang HC; Kim SH; Park AH; Park EK; Cho YW; Kim S; Kim HM; Kim JA; Kim J; Rhee H; Kang SG; Kim HD; Kim D; Kim DS; Lee JH Nat Med; 2015 Apr; 21(4):395-400. PubMed ID: 25799227 [TBL] [Abstract][Full Text] [Related]
6. Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis. Lee WS; Baldassari S; Stephenson SEM; Lockhart PJ; Baulac S; Leventer RJ Int J Mol Sci; 2022 Jan; 23(3):. PubMed ID: 35163267 [TBL] [Abstract][Full Text] [Related]
7. GABAergic Interneuron and Neurotransmission Are mTOR-Dependently Disturbed in Experimental Focal Cortical Dysplasia. Zhong S; Zhao Z; Xie W; Cai Y; Zhang Y; Ding J; Wang X Mol Neurobiol; 2021 Jan; 58(1):156-169. PubMed ID: 32909150 [TBL] [Abstract][Full Text] [Related]
8. Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. Lim JS; Gopalappa R; Kim SH; Ramakrishna S; Lee M; Kim WI; Kim J; Park SM; Lee J; Oh JH; Kim HD; Park CH; Lee JS; Kim S; Kim DS; Han JM; Kang HC; Kim HH; Lee JH Am J Hum Genet; 2017 Mar; 100(3):454-472. PubMed ID: 28215400 [TBL] [Abstract][Full Text] [Related]
9. Brain somatic mutations in MTOR leading to focal cortical dysplasia. Lim JS; Lee JH BMB Rep; 2016 Feb; 49(2):71-2. PubMed ID: 26779999 [TBL] [Abstract][Full Text] [Related]
11. mTOR pathway activation in focal cortical dysplasia. Kumari K; Sharma MC; Kakkar A; Malgulwar PB; Pathak P; Suri V; Sarkar C; Chandra SP; Faruq M Ann Diagn Pathol; 2020 Jun; 46():151523. PubMed ID: 32325422 [TBL] [Abstract][Full Text] [Related]
12. Altered inhibition in tuberous sclerosis and type IIb cortical dysplasia. Talos DM; Sun H; Kosaras B; Joseph A; Folkerth RD; Poduri A; Madsen JR; Black PM; Jensen FE Ann Neurol; 2012 Apr; 71(4):539-51. PubMed ID: 22447678 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Focal cortical dysplasia II caused by brain somatic mutation of IRS-1 is associated with ERK signaling pathway activation. Li X; Wang T; Liu N; Cai A; Zhang J; Zhang F; Liu Q; Wang J; Wu Y; Gao K; Jiang YW Cereb Cortex; 2024 Jun; 34(6):. PubMed ID: 38836287 [TBL] [Abstract][Full Text] [Related]
15. Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. Lai D; Gade M; Yang E; Koh HY; Lu J; Walley NM; Buckley AF; Sands TT; Akman CI; Mikati MA; McKhann GM; Goldman JE; Canoll P; Alexander AL; Park KL; Von Allmen GK; Rodziyevska O; Bhattacharjee MB; Lidov HGW; Vogel H; Grant GA; Porter BE; Poduri AH; Crino PB; Heinzen EL Brain; 2022 Aug; 145(8):2704-2720. PubMed ID: 35441233 [TBL] [Abstract][Full Text] [Related]
16. New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives. Mühlebner A; Bongaarts A; Sarnat HB; Scholl T; Aronica E J Anat; 2019 Sep; 235(3):521-542. PubMed ID: 30901081 [TBL] [Abstract][Full Text] [Related]