62 related articles for article (PubMed ID: 28427592)
1. Pathologic Active mTOR Mutation in Brain Malformation with Intractable Epilepsy Leads to Cell-Autonomous Migration Delay.
Hanai S; Sukigara S; Dai H; Owa T; Horike SI; Otsuki T; Saito T; Nakagawa E; Ikegaya N; Kaido T; Sato N; Takahashi A; Sugai K; Saito Y; Sasaki M; Hoshino M; Goto YI; Koizumi S; Itoh M
Am J Pathol; 2017 May; 187(5):1177-1185. PubMed ID: 28427592
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.
Marsan E; Baulac S
Neuropathol Appl Neurobiol; 2018 Feb; 44(1):6-17. PubMed ID: 29359340
[TBL] [Abstract][Full Text] [Related]
6. Differential roles for Akt and mTORC1 in the hypertrophy of Pten mutant neurons, a cellular model of brain overgrowth disorders.
Nikolaeva I; Kazdoba TM; Crowell B; D'Arcangelo G
Neuroscience; 2017 Jun; 354():196-207. PubMed ID: 28457820
[TBL] [Abstract][Full Text] [Related]
7. Heart-rate variability indices as predictors of the response to vagus nerve stimulation in patients with drug-resistant epilepsy.
Liu H; Yang Z; Huang L; Qu W; Hao H; Li L
Epilepsia; 2017 Jun; 58(6):1015-1022. PubMed ID: 28440954
[TBL] [Abstract][Full Text] [Related]
8. Influence of seizures on early development in tuberous sclerosis complex.
Capal JK; Bernardino-Cuesta B; Horn PS; Murray D; Byars AW; Bing NM; Kent B; Pearson DA; Sahin M; Krueger DA;
Epilepsy Behav; 2017 May; 70(Pt A):245-252. PubMed ID: 28457992
[TBL] [Abstract][Full Text] [Related]
9. Elevated Expression of TRPC4 in Cortical Lesions of Focal Cortical Dysplasia II and Tuberous Sclerosis Complex.
Wang LK; Chen X; Zhang CQ; Liang C; Wei YJ; Yue J; Liu SY; Yang H
J Mol Neurosci; 2017 Jun; 62(2):222-231. PubMed ID: 28455787
[TBL] [Abstract][Full Text] [Related]
10. The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations.
Oguz Akarsu E; Dinçsoy Bir F; Baykal C; Taşdemir V; Kara B; Bebek N; Gürses C; Uyguner O; Baykan B
Clin EEG Neurosci; 2018 May; 49(3):192-196. PubMed ID: 28434238
[TBL] [Abstract][Full Text] [Related]
11. 4E-BP1 expression in embryonic postmitotic neurons mitigates mTORC1-induced cortical malformations and behavioral seizure severity but does not prevent epilepsy in mice.
Nguyen LH; Sharma M; Bordey A
Front Neurosci; 2023; 17():1257056. PubMed ID: 37680968
[TBL] [Abstract][Full Text] [Related]
12. Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.
Dainelli A; Iacomino M; Rossato S; Bugin S; Traverso M; Severino M; Gustincich S; Capra V; Di Duca M; Zara F; Scala M; Striano P
Epilepsia Open; 2023 Dec; 8(4):1314-1330. PubMed ID: 37491868
[TBL] [Abstract][Full Text] [Related]
13. Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia.
Lee WS; Macdonald-Laurs E; Stephenson SEM; D'Arcy C; MacGregor D; Leventer RJ; Maixner W; Harvey AS; Lockhart PJ
Epilepsia Open; 2023 Mar; 8(1):205-210. PubMed ID: 36461712
[TBL] [Abstract][Full Text] [Related]
14. CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.
Mayo S; Gómez-Manjón I; Fernández-Martínez FJ; Camacho A; Martínez F; Benito-León J
Int J Mol Sci; 2022 Apr; 23(9):. PubMed ID: 35563270
[TBL] [Abstract][Full Text] [Related]
15. Emergence of mTOR mutation as an acquired resistance mechanism to AKT inhibition, and subsequent response to mTORC1/2 inhibition.
Coleman N; Subbiah V; Pant S; Patel K; Roy-Chowdhuri S; Yedururi S; Johnson A; Yap TA; Rodon J; Shaw K; Meric-Bernstam F
NPJ Precis Oncol; 2021 Dec; 5(1):99. PubMed ID: 34853384
[TBL] [Abstract][Full Text] [Related]
16. Expression of 4E-BP1 in juvenile mice alleviates mTOR-induced neuronal dysfunction and epilepsy.
Nguyen LH; Xu Y; Mahadeo T; Zhang L; Lin TV; Born HA; Anderson AE; Bordey A
Brain; 2022 May; 145(4):1310-1325. PubMed ID: 34849602
[TBL] [Abstract][Full Text] [Related]
17. Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment.
Vasic V; Jones MSO; Haslinger D; Knaus LS; Schmeisser MJ; Novarino G; Chiocchetti AG
Genes (Basel); 2021 Oct; 12(11):. PubMed ID: 34828352
[TBL] [Abstract][Full Text] [Related]
18. Corrigendum: Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies.
Nguyen LH; Bordey A
Front Neuroanat; 2021; 15():715363. PubMed ID: 34295225
[TBL] [Abstract][Full Text] [Related]
19. RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity.
Proietti Onori M; Koene LMC; Schäfer CB; Nellist M; de Brito van Velze M; Gao Z; Elgersma Y; van Woerden GM
PLoS Biol; 2021 May; 19(5):e3001279. PubMed ID: 34038402
[TBL] [Abstract][Full Text] [Related]
20. Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies.
Nguyen LH; Bordey A
Front Neuroanat; 2021; 15():664695. PubMed ID: 33897381
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
