227 related articles for article (PubMed ID: 33434304)
1. Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia.
Lee WS; Baldassari S; Chipaux M; Adle-Biassette H; Stephenson SEM; Maixner W; Harvey AS; Lockhart PJ; Baulac S; Leventer RJ
Ann Clin Transl Neurol; 2021 Feb; 8(2):485-490. PubMed ID: 33434304
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.
Baldassari S; Ribierre T; Marsan E; Adle-Biassette H; Ferrand-Sorbets S; Bulteau C; Dorison N; Fohlen M; Polivka M; Weckhuysen S; Dorfmüller G; Chipaux M; Baulac S
Acta Neuropathol; 2019 Dec; 138(6):885-900. PubMed ID: 31444548
[TBL] [Abstract][Full Text] [Related]
4. Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Pirozzi F; Berkseth M; Shear R; Gonzalez L; Timms AE; Sulc J; Pao E; Oyama N; Forzano F; Conti V; Guerrini R; Doherty ES; Saitta SC; Lockwood CM; Pritchard CC; Dobyns WB; Novotny E; Wright JNN; Saneto RP; Friedman S; Hauptman J; Ojemann J; Kapur RP; Mirzaa GM
Brain; 2022 Apr; 145(3):925-938. PubMed ID: 35355055
[TBL] [Abstract][Full Text] [Related]
5. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
Jansen LA; Mirzaa GM; Ishak GE; O'Roak BJ; Hiatt JB; Roden WH; Gunter SA; Christian SL; Collins S; Adams C; Rivière JB; St-Onge J; Ojemann JG; Shendure J; Hevner RF; Dobyns WB
Brain; 2015 Jun; 138(Pt 6):1613-28. PubMed ID: 25722288
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
Lee WS; Stephenson SEM; Howell KB; Pope K; Gillies G; Wray A; Maixner W; Mandelstam SA; Berkovic SF; Scheffer IE; MacGregor D; Harvey AS; Lockhart PJ; Leventer RJ
Ann Clin Transl Neurol; 2019 Jul; 6(7):1338-1344. PubMed ID: 31353856
[TBL] [Abstract][Full Text] [Related]
8. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Mirzaa GM; Campbell CD; Solovieff N; Goold C; Jansen LA; Menon S; Timms AE; Conti V; Biag JD; Adams C; Boyle EA; Collins S; Ishak G; Poliachik S; Girisha KM; Yeung KS; Chung BHY; Rahikkala E; Gunter SA; McDaniel SS; Macmurdo CF; Bernstein JA; Martin B; Leary R; Mahan S; Liu S; Weaver M; Doerschner M; Jhangiani S; Muzny DM; Boerwinkle E; Gibbs RA; Lupski JR; Shendure J; Saneto RP; Novotny EJ; Wilson CJ; Sellers WR; Morrissey M; Hevner RF; Ojemann JG; Guerrini R; Murphy LO; Winckler W; Dobyns WB
JAMA Neurol; 2016 Jul; 73(7):836-845. PubMed ID: 27159400
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination.
Park SM; Lim JS; Ramakrishina S; Kim SH; Kim WK; Lee J; Kang HC; Reiter JF; Kim DS; Kim HH; Lee JH
Neuron; 2018 Jul; 99(1):83-97.e7. PubMed ID: 29937275
[TBL] [Abstract][Full Text] [Related]
14. Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.
Leventer RJ; Scerri T; Marsh AP; Pope K; Gillies G; Maixner W; MacGregor D; Harvey AS; Delatycki MB; Amor DJ; Crino P; Bahlo M; Lockhart PJ
Neurology; 2015 May; 84(20):2029-32. PubMed ID: 25878179
[TBL] [Abstract][Full Text] [Related]
15. Focal malformations of cortical development: new vistas for molecular pathogenesis.
Lim KC; Crino PB
Neuroscience; 2013 Nov; 252():262-76. PubMed ID: 23892008
[TBL] [Abstract][Full Text] [Related]
16. Infantile tauopathies: Hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma.
Sarnat HB; Flores-Sarnat L
Brain Dev; 2015 Jun; 37(6):553-62. PubMed ID: 25451314
[TBL] [Abstract][Full Text] [Related]
17. GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations.
Iffland PH; Carson V; Bordey A; Crino PB
Epilepsia; 2019 Nov; 60(11):2163-2173. PubMed ID: 31625153
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy.
Lee WS; Stephenson SEM; Pope K; Gillies G; Maixner W; Macdonald-Laurs E; MacGregor D; D'Arcy C; Jackson G; Harvey AS; Leventer RJ; Lockhart PJ
Neurology; 2020 Nov; 95(18):e2542-e2551. PubMed ID: 32847954
[TBL] [Abstract][Full Text] [Related]
20. Focal cortical dysplasia: Updates.
Pinheiro J; Honavar M
Indian J Pathol Microbiol; 2022 May; 65(Supplement):S189-S197. PubMed ID: 35562149
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
