164 related articles for article (PubMed ID: 36544434)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. Focal cortical dysplasia pathology: diagnostic difficulty, classification, and utility for pathogenesis.
Kapar O; Gurkan ZM; Dolgun M; Sencer A; Gürses C; Bilgic B
Neurosurg Focus; 2022 Oct; 53(4):E6. PubMed ID: 36183176
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. Balloon cells promote immune system activation in focal cortical dysplasia type 2b.
Zimmer TS; Broekaart DWM; Luinenburg M; Mijnsbergen C; Anink JJ; Sim NS; Michailidou I; Jansen FE; van Rijen PC; Lee JH; François L; van Eyll J; Dedeurwaerdere S; van Vliet EA; Mühlebner A; Mills JD; Aronica E
Neuropathol Appl Neurobiol; 2021 Oct; 47(6):826-839. PubMed ID: 34003514
[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. A comprehensive clinico-pathological and genetic evaluation of bottom-of-sulcus focal cortical dysplasia in patients with difficult-to-localize focal epilepsy.
Ying Z; Wang I; Blümcke I; Bulacio J; Alexopoulos A; Jehi L; Bingaman W; Gonzalez-Martinez J; Kobow K; Niestroj LM; Lal D; Koelble K; Najm I
Epileptic Disord; 2019 Feb; 21(1):65-77. PubMed ID: 30782578
[TBL] [Abstract][Full Text] [Related]
13. SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE.
Elziny S; Crino PB; Winawer M
Neurobiol Dis; 2023 Oct; 187():106299. PubMed ID: 37739137
[TBL] [Abstract][Full Text] [Related]
14. Evidence for mTOR pathway activation in a spectrum of epilepsy-associated pathologies.
Liu J; Reeves C; Michalak Z; Coppola A; Diehl B; Sisodiya SM; Thom M
Acta Neuropathol Commun; 2014 Jul; 2():71. PubMed ID: 25005575
[TBL] [Abstract][Full Text] [Related]
15. Clinical, imaging, and immunohistochemical characteristics of focal cortical dysplasia Type II extratemporal epilepsies in children: analyses of an institutional case series.
Knerlich-Lukoschus F; Connolly MB; Hendson G; Steinbok P; Dunham C
J Neurosurg Pediatr; 2017 Feb; 19(2):182-195. PubMed ID: 27885945
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Detection of brain somatic variation in epilepsy-associated developmental lesions.
Bedrosian TA; Miller KE; Grischow OE; Schieffer KM; LaHaye S; Yoon H; Miller AR; Navarro J; Westfall J; Leraas K; Choi S; Williamson R; Fitch J; Kelly BJ; White P; Lee K; McGrath S; Cottrell CE; Magrini V; Leonard J; Pindrik J; Shaikhouni A; Boué DR; Thomas DL; Pierson CR; Wilson RK; Ostendorf AP; Mardis ER; Koboldt DC
Epilepsia; 2022 Aug; 63(8):1981-1997. PubMed ID: 35687047
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission.
Najm I; Lal D; Alonso Vanegas M; Cendes F; Lopes-Cendes I; Palmini A; Paglioli E; Sarnat HB; Walsh CA; Wiebe S; Aronica E; Baulac S; Coras R; Kobow K; Cross JH; Garbelli R; Holthausen H; Rössler K; Thom M; El-Osta A; Lee JH; Miyata H; Guerrini R; Piao YS; Zhou D; Blümcke I
Epilepsia; 2022 Aug; 63(8):1899-1919. PubMed ID: 35706131
[TBL] [Abstract][Full Text] [Related]
20. Type IIB focal cortical dysplasia with balloon cells in medial temporal lobe epilepsy: Clinical, neuroimaging, and histopathological findings.
Mao C; Jin L; Dou W; Lu Q; Zhou L; Ren H; Zhao Y; Feng F; Guo Y; Gao J
Epilepsy Res; 2019 Nov; 157():106189. PubMed ID: 31472401
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
