BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

307 related articles for article (PubMed ID: 31468518)

  • 1. Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.
    Jiang X; Raju PK; D'Avanzo N; Lachance M; Pepin J; Dubeau F; Mitchell WG; Bello-Espinosa LE; Pierson TM; Minassian BA; Lacaille JC; Rossignol E
    Epilepsia; 2019 Sep; 60(9):1881-1894. PubMed ID: 31468518
    [TBL] [Abstract][Full Text] [Related]  

  • 2. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
    ; ;
    Am J Hum Genet; 2014 Oct; 95(4):360-70. PubMed ID: 25262651
    [TBL] [Abstract][Full Text] [Related]  

  • 3. De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.
    Ambrosino P; Soldovieri MV; Bast T; Turnpenny PD; Uhrig S; Biskup S; Döcker M; Fleck T; Mosca I; Manocchio L; Iraci N; Taglialatela M; Lemke JR
    Ann Neurol; 2018 Jun; 83(6):1198-1204. PubMed ID: 29740868
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Epileptic encephalopathies: new genes and new pathways.
    Nieh SE; Sherr EH
    Neurotherapeutics; 2014 Oct; 11(4):796-806. PubMed ID: 25266964
    [TBL] [Abstract][Full Text] [Related]  

  • 5. De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.
    Kunii M; Doi H; Hashiguchi S; Matsuishi T; Sakai Y; Iai M; Okubo M; Nakamura H; Takahashi K; Katsumoto A; Tada M; Takeuchi H; Ishikawa T; Miyake N; Saitsu H; Matsumoto N; Tanaka F
    J Neurol Sci; 2020 Sep; 416():117047. PubMed ID: 32736238
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.
    Zhou P; He N; Zhang JW; Lin ZJ; Wang J; Yan LM; Meng H; Tang B; Li BM; Liu XR; Shi YW; Zhai QX; Yi YH; Liao WP
    Genes Brain Behav; 2018 Nov; 17(8):e12456. PubMed ID: 29314583
    [TBL] [Abstract][Full Text] [Related]  

  • 7. De novo mutations in epileptic encephalopathies.
    ; ; Allen AS; Berkovic SF; Cossette P; Delanty N; Dlugos D; Eichler EE; Epstein MP; Glauser T; Goldstein DB; Han Y; Heinzen EL; Hitomi Y; Howell KB; Johnson MR; Kuzniecky R; Lowenstein DH; Lu YF; Madou MR; Marson AG; Mefford HC; Esmaeeli Nieh S; O'Brien TJ; Ottman R; Petrovski S; Poduri A; Ruzzo EK; Scheffer IE; Sherr EH; Yuskaitis CJ; Abou-Khalil B; Alldredge BK; Bautista JF; Berkovic SF; Boro A; Cascino GD; Consalvo D; Crumrine P; Devinsky O; Dlugos D; Epstein MP; Fiol M; Fountain NB; French J; Friedman D; Geller EB; Glauser T; Glynn S; Haut SR; Hayward J; Helmers SL; Joshi S; Kanner A; Kirsch HE; Knowlton RC; Kossoff EH; Kuperman R; Kuzniecky R; Lowenstein DH; McGuire SM; Motika PV; Novotny EJ; Ottman R; Paolicchi JM; Parent JM; Park K; Poduri A; Scheffer IE; Shellhaas RA; Sherr EH; Shih JJ; Singh R; Sirven J; Smith MC; Sullivan J; Lin Thio L; Venkat A; Vining EP; Von Allmen GK; Weisenberg JL; Widdess-Walsh P; Winawer MR
    Nature; 2013 Sep; 501(7466):217-21. PubMed ID: 23934111
    [TBL] [Abstract][Full Text] [Related]  

  • 8. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
    Helbig KL; Lauerer RJ; Bahr JC; Souza IA; Myers CT; Uysal B; Schwarz N; Gandini MA; Huang S; Keren B; Mignot C; Afenjar A; Billette de Villemeur T; Héron D; Nava C; Valence S; Buratti J; Fagerberg CR; Soerensen KP; Kibaek M; Kamsteeg EJ; Koolen DA; Gunning B; Schelhaas HJ; Kruer MC; Fox J; Bakhtiari S; Jarrar R; Padilla-Lopez S; Lindstrom K; Jin SC; Zeng X; Bilguvar K; Papavasileiou A; Xing Q; Zhu C; Boysen K; Vairo F; Lanpher BC; Klee EW; Tillema JM; Payne ET; Cousin MA; Kruisselbrink TM; Wick MJ; Baker J; Haan E; Smith N; Sadeghpour A; Davis EE; Katsanis N; ; Corbett MA; MacLennan AH; Gecz J; Biskup S; Goldmann E; Rodan LH; Kichula E; Segal E; Jackson KE; Asamoah A; Dimmock D; McCarrier J; Botto LD; Filloux F; Tvrdik T; Cascino GD; Klingerman S; Neumann C; Wang R; Jacobsen JC; Nolan MA; Snell RG; Lehnert K; Sadleir LG; Anderlid BM; Kvarnung M; Guerrini R; Friez MJ; Lyons MJ; Leonhard J; Kringlen G; Casas K; El Achkar CM; Smith LA; Rotenberg A; Poduri A; Sanchis-Juan A; Carss KJ; Rankin J; Zeman A; Raymond FL; Blyth M; Kerr B; Ruiz K; Urquhart J; Hughes I; Banka S; ; Hedrich UBS; Scheffer IE; Helbig I; Zamponi GW; Lerche H; Mefford HC
    Am J Hum Genet; 2018 Nov; 103(5):666-678. PubMed ID: 30343943
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy.
    Epilepsy Phenome/Genome Project Epi4K Consortium
    Ann Neurol; 2015 Aug; 78(2):323-8. PubMed ID: 26068938
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of
    Berecki G; Howell KB; Deerasooriya YH; Cilio MR; Oliva MK; Kaplan D; Scheffer IE; Berkovic SF; Petrou S
    Proc Natl Acad Sci U S A; 2018 Jun; 115(24):E5516-E5525. PubMed ID: 29844171
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De novo DNM1 mutations in two cases of epileptic encephalopathy.
    Nakashima M; Kouga T; Lourenço CM; Shiina M; Goto T; Tsurusaki Y; Miyatake S; Miyake N; Saitsu H; Ogata K; Osaka H; Matsumoto N
    Epilepsia; 2016 Jan; 57(1):e18-23. PubMed ID: 26611353
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
    Millichap JJ; Miceli F; De Maria M; Keator C; Joshi N; Tran B; Soldovieri MV; Ambrosino P; Shashi V; Mikati MA; Cooper EC; Taglialatela M
    Epilepsia; 2017 Jan; 58(1):e10-e15. PubMed ID: 27861786
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.
    Yoshida M; Nakashima M; Okanishi T; Kanai S; Fujimoto A; Itomi K; Morimoto M; Saitsu H; Kato M; Matsumoto N; Chiyonobu T
    Clin Genet; 2018 Feb; 93(2):368-373. PubMed ID: 28589569
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
    Reinson K; Õiglane-Shlik E; Talvik I; Vaher U; Õunapuu A; Ennok M; Teek R; Pajusalu S; Murumets Ü; Tomberg T; Puusepp S; Piirsoo A; Reimand T; Õunap K
    Am J Med Genet A; 2016 Aug; 170(8):2173-6. PubMed ID: 27250579
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.
    Juanes M; Loos M; Reyes G; Veneruzzo G; García FM; Aschettino G; Calligaris S; Martín ME; Foncuberta ME; Alonso CN; Caraballo RH
    Medicina (B Aires); 2022; 82(6):856-865. PubMed ID: 36571524
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
    Masnada S; Hedrich UBS; Gardella E; Schubert J; Kaiwar C; Klee EW; Lanpher BC; Gavrilova RH; Synofzik M; Bast T; Gorman K; King MD; Allen NM; Conroy J; Ben Zeev B; Tzadok M; Korff C; Dubois F; Ramsey K; Narayanan V; Serratosa JM; Giraldez BG; Helbig I; Marsh E; O'Brien M; Bergqvist CA; Binelli A; Porter B; Zaeyen E; Horovitz DD; Wolff M; Marjanovic D; Caglayan HS; Arslan M; Pena SDJ; Sisodiya SM; Balestrini S; Syrbe S; Veggiotti P; Lemke JR; Møller RS; Lerche H; Rubboli G
    Brain; 2017 Sep; 140(9):2337-2354. PubMed ID: 29050392
    [TBL] [Abstract][Full Text] [Related]  

  • 17. CACNA1A variants may modify the epileptic phenotype of Dravet syndrome.
    Ohmori I; Ouchida M; Kobayashi K; Jitsumori Y; Mori A; Michiue H; Nishiki T; Ohtsuka Y; Matsui H
    Neurobiol Dis; 2013 Feb; 50():209-17. PubMed ID: 23103419
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pediatric Epileptic Encephalopathies: Pathophysiology and Animal Models.
    Shao LR; Stafstrom CE
    Semin Pediatr Neurol; 2016 May; 23(2):98-107. PubMed ID: 27544466
    [TBL] [Abstract][Full Text] [Related]  

  • 19. De novo GABRG2 mutations associated with epileptic encephalopathies.
    Shen D; Hernandez CC; Shen W; Hu N; Poduri A; Shiedley B; Rotenberg A; Datta AN; Leiz S; Patzer S; Boor R; Ramsey K; Goldberg E; Helbig I; Ortiz-Gonzalez XR; Lemke JR; Marsh ED; Macdonald RL
    Brain; 2017 Jan; 140(1):49-67. PubMed ID: 27864268
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Nonseizure consequences of Dravet syndrome, KCNQ2-DEE, KCNB1-DEE, Lennox-Gastaut syndrome, ESES: A functional framework.
    Berg AT; Gaebler-Spira D; Wilkening G; Zelko F; Knupp K; Dixon-Salazar T; Villas N; Meskis MA; Harwell V; Thompson T; Sims S; Nesbitt G
    Epilepsy Behav; 2020 Oct; 111():107287. PubMed ID: 32759067
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.