BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

423 related articles for article (PubMed ID: 32400968)

  • 1. Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy.
    Miao P; Tang S; Ye J; Wang J; Lou Y; Zhang B; Xu X; Chen X; Li Y; Feng J
    Mol Genet Genomic Med; 2020 Jul; 8(7):e1250. PubMed ID: 32400968
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
    Begemann A; Acuña MA; Zweier M; Vincent M; Steindl K; Bachmann-Gagescu R; Hackenberg A; Abela L; Plecko B; Kroell-Seger J; Baumer A; Yamakawa K; Inoue Y; Asadollahi R; Sticht H; Zeilhofer HU; Rauch A
    Mol Med; 2019 Feb; 25(1):6. PubMed ID: 30813884
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.
    Kim HJ; Yang D; Kim SH; Kim B; Kim HD; Lee JS; Choi JR; Lee ST; Kang HC
    Epileptic Disord; 2020 Oct; 22(5):563-570. PubMed ID: 33000761
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
    Lauxmann S; Verbeek NE; Liu Y; Zaichuk M; Müller S; Lemke JR; van Kempen MJA; Lerche H; Hedrich UBS
    Hum Mutat; 2018 Dec; 39(12):1942-1956. PubMed ID: 30144217
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function
    Mao M; Mattei C; Rollo B; Byars S; Cuddy C; Berecki G; Heighway J; Pachernegg S; Menheniott T; Apted D; Jia L; Dalby K; Nemiroff A; Mullen S; Reid CA; Maljevic S; Petrou S
    J Neurosci; 2024 Feb; 44(8):. PubMed ID: 38148154
    [No Abstract]   [Full Text] [Related]  

  • 8. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
    Brunklaus A; Du J; Steckler F; Ghanty II; Johannesen KM; Fenger CD; Schorge S; Baez-Nieto D; Wang HR; Allen A; Pan JQ; Lerche H; Heyne H; Symonds JD; Zuberi SM; Sanders S; Sheidley BR; Craiu D; Olson HE; Weckhuysen S; DeJonge P; Helbig I; Van Esch H; Busa T; Milh M; Isidor B; Depienne C; Poduri A; Campbell AJ; Dimidschstein J; Møller RS; Lal D
    Epilepsia; 2020 Mar; 61(3):387-399. PubMed ID: 32090326
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Phenotype study of SCN2A gene related epilepsy].
    Zeng Q; Zhang YH; Yang XL; Zhang J; Liu AJ; Liu XY; Jiang YW; Wu XR
    Zhonghua Er Ke Za Zhi; 2018 Jul; 56(7):518-523. PubMed ID: 29996185
    [No Abstract]   [Full Text] [Related]  

  • 10.
    Yang XR; Ginjupalli VKM; Theriault O; Poulin H; Appendino JP; Au PYB; Chahine M
    J Neurophysiol; 2022 May; 127(5):1388-1397. PubMed ID: 35417276
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Functional and pharmacological evaluation of a novel SCN2A variant linked to early-onset epilepsy.
    Adney SK; Millichap JJ; DeKeyser JM; Abramova T; Thompson CH; George AL
    Ann Clin Transl Neurol; 2020 Sep; 7(9):1488-1501. PubMed ID: 32750235
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Differential Functional Changes of Nav1.2 Channel Causing
    Miao P; Tang S; Ye J; Tang J; Wang J; Zheng C; Li Y; Feng J
    Front Neurol; 2021; 12():653517. PubMed ID: 34093402
    [No Abstract]   [Full Text] [Related]  

  • 13. Enhanced slow inactivation contributes to dysfunction of a recurrent SCN2A mutation associated with developmental and epileptic encephalopathy.
    Ganguly S; Thompson CH; George AL
    J Physiol; 2021 Sep; 599(18):4375-4388. PubMed ID: 34287911
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy.
    Dilena R; Striano P; Gennaro E; Bassi L; Olivotto S; Tadini L; Mosca F; Barbieri S; Zara F; Fumagalli M
    Brain Dev; 2017 Apr; 39(4):345-348. PubMed ID: 27876397
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neonatal SCN2A encephalopathy: A peculiar recognizable electroclinical sequence.
    Melikishvili G; Dulac O; Gataullina S
    Epilepsy Behav; 2020 Oct; 111():107187. PubMed ID: 32603808
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.
    Wolff M; Brunklaus A; Zuberi SM
    Epilepsia; 2019 Dec; 60 Suppl 3():S59-S67. PubMed ID: 31904126
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features.
    Liang JS; Lin LJ; Yang MT; Wang JS; Lu JF
    Brain Dev; 2017 Nov; 39(10):877-881. PubMed ID: 28709814
    [TBL] [Abstract][Full Text] [Related]  

  • 18. CaMKII modulates sodium current in neurons from epileptic
    Thompson CH; Hawkins NA; Kearney JA; George AL
    Proc Natl Acad Sci U S A; 2017 Feb; 114(7):1696-1701. PubMed ID: 28137877
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Variant-specific in vitro neuronal network phenotypes and drug sensitivity in SCN2A developmental and epileptic encephalopathy.
    Jia L; Li M; Pachernegg S; Sedo A; Jancovski N; Burbano LE; Dalby K; Nemiroff A; Reid C; Maljevic S; Petrou S
    J Neurochem; 2024 Mar; ():. PubMed ID: 38544375
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
    Johannesen KM; Liu Y; Koko M; Gjerulfsen CE; Sonnenberg L; Schubert J; Fenger CD; Eltokhi A; Rannap M; Koch NA; Lauxmann S; Krüger J; Kegele J; Canafoglia L; Franceschetti S; Mayer T; Rebstock J; Zacher P; Ruf S; Alber M; Sterbova K; Lassuthová P; Vlckova M; Lemke JR; Platzer K; Krey I; Heine C; Wieczorek D; Kroell-Seger J; Lund C; Klein KM; Au PYB; Rho JM; Ho AW; Masnada S; Veggiotti P; Giordano L; Accorsi P; Hoei-Hansen CE; Striano P; Zara F; Verhelst H; Verhoeven JS; Braakman HMH; van der Zwaag B; Harder AVE; Brilstra E; Pendziwiat M; Lebon S; Vaccarezza M; Le NM; Christensen J; Grønborg S; Scherer SW; Howe J; Fazeli W; Howell KB; Leventer R; Stutterd C; Walsh S; Gerard M; Gerard B; Matricardi S; Bonardi CM; Sartori S; Berger A; Hoffman-Zacharska D; Mastrangelo M; Darra F; Vøllo A; Motazacker MM; Lakeman P; Nizon M; Betzler C; Altuzarra C; Caume R; Roubertie A; Gélisse P; Marini C; Guerrini R; Bilan F; Tibussek D; Koch-Hogrebe M; Perry MS; Ichikawa S; Dadali E; Sharkov A; Mishina I; Abramov M; Kanivets I; Korostelev S; Kutsev S; Wain KE; Eisenhauer N; Wagner M; Savatt JM; Müller-Schlüter K; Bassan H; Borovikov A; Nassogne MC; Destrée A; Schoonjans AS; Meuwissen M; Buzatu M; Jansen A; Scalais E; Srivastava S; Tan WH; Olson HE; Loddenkemper T; Poduri A; Helbig KL; Helbig I; Fitzgerald MP; Goldberg EM; Roser T; Borggraefe I; Brünger T; May P; Lal D; Lederer D; Rubboli G; Heyne HO; Lesca G; Hedrich UBS; Benda J; Gardella E; Lerche H; Møller RS
    Brain; 2022 Sep; 145(9):2991-3009. PubMed ID: 34431999
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.