These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

288 related articles for article (PubMed ID: 28053010)

  • 1. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
    Møller RS; Wuttke TV; Helbig I; Marini C; Johannesen KM; Brilstra EH; Vaher U; Borggraefe I; Talvik I; Talvik T; Kluger G; Francois LL; Lesca G; de Bellescize J; Blichfeldt S; Chatron N; Holert N; Jacobs J; Swinkels M; Betzler C; Syrbe S; Nikanorova M; Myers CT; Larsen LH; Vejzovic S; Pendziwiat M; von Spiczak S; Hopkins S; Dubbs H; Mang Y; Mukhin K; Holthausen H; van Gassen KL; Dahl HA; Tommerup N; Mefford HC; Rubboli G; Guerrini R; Lemke JR; Lerche H; Muhle H; Maljevic S
    Neurology; 2017 Jan; 88(5):483-492. PubMed ID: 28053010
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.
    Shi YW; Zhang Q; Cai K; Poliquin S; Shen W; Winters N; Yi YH; Wang J; Hu N; Macdonald RL; Liao WP; Kang JQ
    Brain; 2019 Oct; 142(10):3028-3044. PubMed ID: 31435640
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
    Johannesen K; Marini C; Pfeffer S; Møller RS; Dorn T; Niturad CE; Gardella E; Weber Y; Søndergård M; Hjalgrim H; Nikanorova M; Becker F; Larsen LH; Dahl HA; Maier O; Mei D; Biskup S; Klein KM; Reif PS; Rosenow F; Elias AF; Hudson C; Helbig KL; Schubert-Bast S; Scordo MR; Craiu D; Djémié T; Hoffman-Zacharska D; Caglayan H; Helbig I; Serratosa J; Striano P; De Jonghe P; Weckhuysen S; Suls A; Muru K; Talvik I; Talvik T; Muhle H; Borggraefe I; Rost I; Guerrini R; Lerche H; Lemke JR; Rubboli G; Maljevic S
    Neurology; 2016 Sep; 87(11):1140-51. PubMed ID: 27521439
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
    Niturad CE; Lev D; Kalscheuer VM; Charzewska A; Schubert J; Lerman-Sagie T; Kroes HY; Oegema R; Traverso M; Specchio N; Lassota M; Chelly J; Bennett-Back O; Carmi N; Koffler-Brill T; Iacomino M; Trivisano M; Capovilla G; Striano P; Nawara M; Rzonca S; Fischer U; Bienek M; Jensen C; Hu H; Thiele H; Altmüller J; Krause R; May P; Becker F; ; Balling R; Biskup S; Haas SA; Nürnberg P; van Gassen KLI; Lerche H; Zara F; Maljevic S; Leshinsky-Silver E
    Brain; 2017 Nov; 140(11):2879-2894. PubMed ID: 29053855
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
    Butler KM; Moody OA; Schuler E; Coryell J; Alexander JJ; Jenkins A; Escayg A
    Brain; 2018 Aug; 141(8):2392-2405. PubMed ID: 29961870
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy.
    Bamborschke D; Pergande M; Daimagüler HS; Mangold E; Dötsch J; Herkenrath P; Cirak S; Fazeli W
    Neuropediatrics; 2019 Dec; 50(6):378-381. PubMed ID: 31319422
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
    Veeramah KR; Johnstone L; Karafet TM; Wolf D; Sprissler R; Salogiannis J; Barth-Maron A; Greenberg ME; Stuhlmann T; Weinert S; Jentsch TJ; Pazzi M; Restifo LL; Talwar D; Erickson RP; Hammer MF
    Epilepsia; 2013 Jul; 54(7):1270-81. PubMed ID: 23647072
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.
    Lin SXN; Ahring PK; Keramidas A; Liao VWY; Møller RS; Chebib M; Absalom NL
    Brain; 2024 Jan; 147(1):224-239. PubMed ID: 37647766
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.
    Hernandez CC; XiangWei W; Hu N; Shen D; Shen W; Lagrange AH; Zhang Y; Dai L; Ding C; Sun Z; Hu J; Zhu H; Jiang Y; Macdonald RL
    Brain; 2019 Jul; 142(7):1938-1954. PubMed ID: 31056671
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.
    Komulainen-Ebrahim J; Schreiber JM; Kangas SM; Pylkäs K; Suo-Palosaari M; Rahikkala E; Liinamaa J; Immonen EV; Hassinen I; Myllynen P; Rantala H; Hinttala R; Uusimaa J
    Seizure; 2019 Jul; 69():99-104. PubMed ID: 31004928
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in GABAA receptor subunits associated with genetic epilepsies.
    Macdonald RL; Kang JQ; Gallagher MJ
    J Physiol; 2010 Jun; 588(Pt 11):1861-9. PubMed ID: 20308251
    [TBL] [Abstract][Full Text] [Related]  

  • 13. GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
    Papandreou A; McTague A; Trump N; Ambegaonkar G; Ngoh A; Meyer E; Scott RH; Kurian MA
    Dev Med Child Neurol; 2016 Apr; 58(4):416-20. PubMed ID: 26645412
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.
    Bowser DN; Wagner DA; Czajkowski C; Cromer BA; Parker MW; Wallace RH; Harkin LA; Mulley JC; Marini C; Berkovic SF; Williams DA; Jones MV; Petrou S
    Proc Natl Acad Sci U S A; 2002 Nov; 99(23):15170-5. PubMed ID: 12415111
    [TBL] [Abstract][Full Text] [Related]  

  • 15. GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man.
    DeLorey TM; Olsen RW
    Epilepsy Res; 1999 Sep; 36(2-3):123-32. PubMed ID: 10515160
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
    Epi4K Consortium
    Am J Hum Genet; 2016 Aug; 99(2):287-98. PubMed ID: 27476654
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq.
    Hawkins NA; Zachwieja NJ; Miller AR; Anderson LL; Kearney JA
    PLoS Genet; 2016 Oct; 12(10):e1006398. PubMed ID: 27768696
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. GABA
    Nwosu GI; Shen W; Zavalin K; Poliquin S; Randhave K; Flamm C; Biven M; Langer K; Kang JQ
    Int J Mol Sci; 2023 May; 24(9):. PubMed ID: 37176165
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
    Wolff M; Johannesen KM; Hedrich UBS; Masnada S; Rubboli G; Gardella E; Lesca G; Ville D; Milh M; Villard L; Afenjar A; Chantot-Bastaraud S; Mignot C; Lardennois C; Nava C; Schwarz N; Gérard M; Perrin L; Doummar D; Auvin S; Miranda MJ; Hempel M; Brilstra E; Knoers N; Verbeek N; van Kempen M; Braun KP; Mancini G; Biskup S; Hörtnagel K; Döcker M; Bast T; Loddenkemper T; Wong-Kisiel L; Baumeister FM; Fazeli W; Striano P; Dilena R; Fontana E; Zara F; Kurlemann G; Klepper J; Thoene JG; Arndt DH; Deconinck N; Schmitt-Mechelke T; Maier O; Muhle H; Wical B; Finetti C; Brückner R; Pietz J; Golla G; Jillella D; Linnet KM; Charles P; Moog U; Õiglane-Shlik E; Mantovani JF; Park K; Deprez M; Lederer D; Mary S; Scalais E; Selim L; Van Coster R; Lagae L; Nikanorova M; Hjalgrim H; Korenke GC; Trivisano M; Specchio N; Ceulemans B; Dorn T; Helbig KL; Hardies K; Stamberger H; de Jonghe P; Weckhuysen S; Lemke JR; Krägeloh-Mann I; Helbig I; Kluger G; Lerche H; Møller RS
    Brain; 2017 May; 140(5):1316-1336. PubMed ID: 28379373
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.