149 related articles for article (PubMed ID: 33834539)
1. Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients.
Kim S; Baldassari S; Sim NS; Chipaux M; Dorfmüller G; Kim DS; Chang WS; Taly V; Lee JH; Baulac S
Ann Neurol; 2021 Jun; 89(6):1248-1252. PubMed ID: 33834539
[TBL] [Abstract][Full Text] [Related]
2. Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).
Bonduelle T; Hartlieb T; Baldassari S; Sim NS; Kim SH; Kang HC; Kobow K; Coras R; Chipaux M; Dorfmüller G; Adle-Biassette H; Aronica E; Lee JH; Blumcke I; Baulac S
Acta Neuropathol Commun; 2021 Jan; 9(1):3. PubMed ID: 33407896
[TBL] [Abstract][Full Text] [Related]
3. Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.
Winawer MR; Griffin NG; Samanamud J; Baugh EH; Rathakrishnan D; Ramalingam S; Zagzag D; Schevon CA; Dugan P; Hegde M; Sheth SA; McKhann GM; Doyle WK; Grant GA; Porter BE; Mikati MA; Muh CR; Malone CD; Bergin AMR; Peters JM; McBrian DK; Pack AM; Akman CI; LaCoursiere CM; Keever KM; Madsen JR; Yang E; Lidov HGW; Shain C; Allen AS; Canoll PD; Crino PB; Poduri AH; Heinzen EL
Ann Neurol; 2018 Jun; 83(6):1133-1146. PubMed ID: 29679388
[TBL] [Abstract][Full Text] [Related]
4. The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the
Chen WL; Pao E; Owens J; Glass I; Pritchard C; Shirts BH; Lockwood C; Mirzaa GM
Cold Spring Harb Mol Case Stud; 2022 Apr; 8(3):. PubMed ID: 35483878
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique.
Klein KM; Mascarenhas R; Merrikh D; Khanbabaei M; Maroilley T; Kaur N; Liu Y; Soule T; Manalo M; Tamura G; Jacobs J; Hader W; Pfeffer G; Tarailo-Graovac M
Epilepsia; 2024 Jun; 65(6):1768-1776. PubMed ID: 38587282
[TBL] [Abstract][Full Text] [Related]
7. Precise detection of low-level somatic mutation in resected epilepsy brain tissue.
Sim NS; Ko A; Kim WK; Kim SH; Kim JS; Shim KW; Aronica E; Mijnsbergen C; Spliet WGM; Koh HY; Kim HD; Lee JS; Kim DS; Kang HC; Lee JH
Acta Neuropathol; 2019 Dec; 138(6):901-912. PubMed ID: 31377847
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain.
Ye Z; Chatterton Z; Pflueger J; Damiano JA; McQuillan L; Harvey AS; Malone S; Do H; Maixner W; Schneider A; Nolan B; Wood M; Lee WS; Gillies G; Pope K; Wilson M; Lockhart PJ; Dobrovic A; Scheffer IE; Bahlo M; Leventer RJ; Lister R; Berkovic SF; Hildebrand MS
Brain Commun; 2021; 3(1):fcaa235. PubMed ID: 33738444
[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. Brain somatic mosaicism in epilepsy: Bringing results back to the clinic.
D'Gama AM; Poduri A
Neurobiol Dis; 2023 Jun; 181():106104. PubMed ID: 36972791
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome.
Damiano JA; Do H; Ozturk E; Burgess R; Kalnins R; Jones NC; Dobrovic A; Berkovic SF; Hildebrand MS
Epileptic Disord; 2017 Dec; 19(4):450-455. PubMed ID: 29258966
[TBL] [Abstract][Full Text] [Related]
15. Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup.
Checri R; Chipaux M; Ferrand-Sorbets S; Raffo E; Bulteau C; Rosenberg SD; Doladilhe M; Dorfmüller G; Adle-Biassette H; Baldassari S; Baulac S
Brain Commun; 2023; 5(3):fcad174. PubMed ID: 37324239
[TBL] [Abstract][Full Text] [Related]
16. Clinical and histopathological outcomes in patients with SCN1A mutations undergoing surgery for epilepsy.
Skjei KL; Church EW; Harding BN; Santi M; Holland-Bouley KD; Clancy RR; Porter BE; Heuer GG; Marsh ED
J Neurosurg Pediatr; 2015 Dec; 16(6):668-74. PubMed ID: 26339958
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy.
Kim JK; Cho J; Kim SH; Kang HC; Kim DS; Kim VN; Lee JH
J Clin Invest; 2019 Oct; 129(10):4207-4223. PubMed ID: 31483294
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
