BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

433 related articles for article (PubMed ID: 32201576)

  • 21. [Epileptic Encephalopathies of Childhood: The New Paradigm of Genetic Diagnosis].
    Martins R; Moldovan O; Sousa AB; Levy A; Quintas S
    Acta Med Port; 2020 Jun; 33(6):415-424. PubMed ID: 32504517
    [TBL] [Abstract][Full Text] [Related]  

  • 22. GRM7-related disorder: five additional patients from three independent families and review of the literature.
    Januel L; Chatron N; Rivier-Ringenbach C; Cabet S; Labalme A; Sahin Y; Darvish H; Kruer M; Bakhtiari S; Sanlaville D; de Sainte Agathe JM; Lesca G
    Eur J Med Genet; 2024 Feb; 67():104893. PubMed ID: 38070825
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
    Cavirani B; Spagnoli C; Caraffi SG; Cavalli A; Cesaroni CA; Cutillo G; De Giorgis V; Frattini D; Marchetti GB; Masnada S; Peron A; Rizzi S; Varesio C; Spaccini L; Vignoli A; Canevini MP; Veggiotti P; Garavelli L; Fusco C
    Int J Mol Sci; 2024 Jan; 25(2):. PubMed ID: 38279250
    [TBL] [Abstract][Full Text] [Related]  

  • 24. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
    Hamdan FF; Myers CT; Cossette P; Lemay P; Spiegelman D; Laporte AD; Nassif C; Diallo O; Monlong J; Cadieux-Dion M; Dobrzeniecka S; Meloche C; Retterer K; Cho MT; Rosenfeld JA; Bi W; Massicotte C; Miguet M; Brunga L; Regan BM; Mo K; Tam C; Schneider A; Hollingsworth G; ; FitzPatrick DR; Donaldson A; Canham N; Blair E; Kerr B; Fry AE; Thomas RH; Shelagh J; Hurst JA; Brittain H; Blyth M; Lebel RR; Gerkes EH; Davis-Keppen L; Stein Q; Chung WK; Dorison SJ; Benke PJ; Fassi E; Corsten-Janssen N; Kamsteeg EJ; Mau-Them FT; Bruel AL; Verloes A; Õunap K; Wojcik MH; Albert DVF; Venkateswaran S; Ware T; Jones D; Liu YC; Mohammad SS; Bizargity P; Bacino CA; Leuzzi V; Martinelli S; Dallapiccola B; Tartaglia M; Blumkin L; Wierenga KJ; Purcarin G; O'Byrne JJ; Stockler S; Lehman A; Keren B; Nougues MC; Mignot C; Auvin S; Nava C; Hiatt SM; Bebin M; Shao Y; Scaglia F; Lalani SR; Frye RE; Jarjour IT; Jacques S; Boucher RM; Riou E; Srour M; Carmant L; Lortie A; Major P; Diadori P; Dubeau F; D'Anjou G; Bourque G; Berkovic SF; Sadleir LG; Campeau PM; Kibar Z; Lafrenière RG; Girard SL; Mercimek-Mahmutoglu S; Boelman C; Rouleau GA; Scheffer IE; Mefford HC; Andrade DM; Rossignol E; Minassian BA; Michaud JL
    Am J Hum Genet; 2017 Nov; 101(5):664-685. PubMed ID: 29100083
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Early-Life Epilepsies.
    Akiyama LF; Saneto RP
    Pediatr Ann; 2023 Oct; 52(10):e381-e387. PubMed ID: 37820708
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Developmental and epileptic encephalopathies: what we do and do not know.
    Specchio N; Curatolo P
    Brain; 2021 Feb; 144(1):32-43. PubMed ID: 33279965
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
    Bar C; Barcia G; Jennesson M; Le Guyader G; Schneider A; Mignot C; Lesca G; Breuillard D; Montomoli M; Keren B; Doummar D; Billette de Villemeur T; Afenjar A; Marey I; Gerard M; Isnard H; Poisson A; Dupont S; Berquin P; Meyer P; Genevieve D; De Saint Martin A; El Chehadeh S; Chelly J; Guët A; Scalais E; Dorison N; Myers CT; Mefford HC; Howell KB; Marini C; Freeman JL; Nica A; Terrone G; Sekhara T; Lebre AS; Odent S; Sadleir LG; Munnich A; Guerrini R; Scheffer IE; Kabashi E; Nabbout R
    Hum Mutat; 2020 Jan; 41(1):69-80. PubMed ID: 31513310
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Neonatal Developmental and Epileptic Encephalopathies.
    El Kosseifi C; Cornet MC; Cilio MR
    Semin Pediatr Neurol; 2019 Dec; 32():100770. PubMed ID: 31813518
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The role of genetic testing in epilepsy diagnosis and management.
    Weber YG; Biskup S; Helbig KL; Von Spiczak S; Lerche H
    Expert Rev Mol Diagn; 2017 Aug; 17(8):739-750. PubMed ID: 28548558
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Epileptic encephalopathies and progressive neurodegeneration.
    Guerrini R; Conti V
    Rev Neurol (Paris); 2024 May; 180(5):363-367. PubMed ID: 38582661
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Diagnostic Considerations in the Epilepsies-Testing Strategies, Test Type Advantages, and Limitations.
    Chen WL; Mefford HC
    Neurotherapeutics; 2021 Jul; 18(3):1468-1477. PubMed ID: 34532824
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy].
    Gong P; Xue J; Jiao XR; Zhang YH; Yang ZX
    Zhonghua Er Ke Za Zhi; 2020 Jan; 58(1):35-40. PubMed ID: 31905474
    [No Abstract]   [Full Text] [Related]  

  • 33. Advances in genetic etiology, diagnosis and treatment of developmental and epileptic encephalopathy.
    Jin L; Chen YJ; Chen YJ
    Yi Chuan; 2023 Jul; 45(7):553-567. PubMed ID: 37503580
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Advances in genetic testing and optimization of clinical management in children and adults with epilepsy.
    Scala M; Bianchi A; Bisulli F; Coppola A; Elia M; Trivisano M; Pruna D; Pippucci T; Canafoglia L; Lattanzi S; Franceschetti S; Nobile C; Gambardella A; Michelucci R; Zara F; Striano P
    Expert Rev Neurother; 2020 Mar; 20(3):251-269. PubMed ID: 31941393
    [No Abstract]   [Full Text] [Related]  

  • 35. Epilepsy genetics: Current knowledge, applications, and future directions.
    Myers KA; Johnstone DL; Dyment DA
    Clin Genet; 2019 Jan; 95(1):95-111. PubMed ID: 29992546
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.
    Ream MA; Mikati MA
    Epilepsy Behav; 2014 Aug; 37():241-8. PubMed ID: 25108116
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Challenges in genetic testing for metabolic causes of developmental epileptic encephalopathy- relevance of genotype-phenotype correlations.
    Jose M; Fasaludeen A; Pavuluri H; Rudrabhatla PK; Chandrasekharan SV; Jose J; Banerjee M; Sundaram S; Radhakrishnan A; Menon RN
    Seizure; 2024 Apr; 117():307-308. PubMed ID: 38402011
    [No Abstract]   [Full Text] [Related]  

  • 38. PEHO syndrome: the endpoint of different genetic epilepsies.
    Chitre M; Nahorski MS; Stouffer K; Dunning-Davies B; Houston H; Wakeling EL; Brady AF; Zuberi SM; Suri M; Parker APJ; Woods CG
    J Med Genet; 2018 Dec; 55(12):803-813. PubMed ID: 30287594
    [TBL] [Abstract][Full Text] [Related]  

  • 39. What are the epileptic encephalopathies?
    Trivisano M; Specchio N
    Curr Opin Neurol; 2020 Apr; 33(2):179-184. PubMed ID: 32049741
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.
    von Deimling M; Helbig I; Marsh ED
    Curr Neurol Neurosci Rep; 2017 Feb; 17(2):10. PubMed ID: 28229394
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 22.