BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

313 related articles for article (PubMed ID: 31924505)

  • 1. The phenotypic spectrum of SCN2A-related epilepsy.
    Reynolds C; King MD; Gorman KM
    Eur J Paediatr Neurol; 2020 Jan; 24():117-122. PubMed ID: 31924505
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4.
    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]  

  • 5. Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
    Hackenberg A; Baumer A; Sticht H; Schmitt B; Kroell-Seger J; Wille D; Joset P; Papuc S; Rauch A; Plecko B
    Neuropediatrics; 2014 Aug; 45(4):261-4. PubMed ID: 24710820
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and genetic spectrum of SCN2A-associated episodic ataxia.
    Schwarz N; Bast T; Gaily E; Golla G; Gorman KM; Griffiths LR; Hahn A; Hukin J; King M; Korff C; Miranda MJ; Møller RS; Neubauer B; Smith RA; Smol T; Striano P; Stroud B; Vaccarezza M; Kluger G; Lerche H; Fazeli W
    Eur J Paediatr Neurol; 2019 May; 23(3):438-447. PubMed ID: 30928199
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.
    Schwarz N; Hahn A; Bast T; Müller S; Löffler H; Maljevic S; Gaily E; Prehl I; Biskup S; Joensuu T; Lehesjoki AE; Neubauer BA; Lerche H; Hedrich UBS
    J Neurol; 2016 Feb; 263(2):334-343. PubMed ID: 26645390
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ketogenic diet as a successful early treatment modality for SCN2A mutation.
    Turkdogan D; Thomas G; Demirel B
    Brain Dev; 2019 Apr; 41(4):389-391. PubMed ID: 30415926
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Frequency of SCN2A-related disorder in the regional epilepsy centre of brescia between 2002 and 2021.
    Filippi C; Milito G; Accorsi P; Muda A; Fazzi EM; Martelli P; Riva A; Giordano L
    Clin Neurol Neurosurg; 2023 Nov; 234():107983. PubMed ID: 37776663
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [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]  

  • 13. SCN2A channelopathies: Mechanisms and models.
    Hedrich UBS; Lauxmann S; Lerche H
    Epilepsia; 2019 Dec; 60 Suppl 3():S68-S76. PubMed ID: 31904120
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Dominant SCN2A mutation with variable phenotype in two generations.
    Passi GR; Mohammad SS
    Brain Dev; 2021 Jan; 43(1):166-169. PubMed ID: 32893078
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Hyperexcitability and Pharmacological Responsiveness of Cortical Neurons Derived from Human iPSCs Carrying Epilepsy-Associated Sodium Channel Nav1.2-L1342P Genetic Variant.
    Que Z; Olivero-Acosta MI; Zhang J; Eaton M; Tukker AM; Chen X; Wu J; Xie J; Xiao T; Wettschurack K; Yunis L; Shafer JM; Schaber JA; Rochet JC; Bowman AB; Yuan C; Huang Z; Hu CD; Trader DJ; Skarnes WC; Yang Y
    J Neurosci; 2021 Dec; 41(49):10194-10208. PubMed ID: 34716231
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine.
    Foster LA; Johnson MR; MacDonald JT; Karachunski PI; Henry TR; Nascene DR; Moran BP; Raymond GV
    Pediatr Neurol; 2017 Jan; 66():108-111. PubMed ID: 27867041
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures.
    Kong Y; Yan K; Hu L; Wang M; Dong X; Lu Y; Wu B; Wang H; Yang L; Zhou W
    Clin Chim Acta; 2018 Aug; 483():14-19. PubMed ID: 29649454
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Confirming an expanded spectrum of SCN2A mutations: a case series.
    Matalon D; Goldberg E; Medne L; Marsh ED
    Epileptic Disord; 2014 Mar; 16(1):13-8. PubMed ID: 24659627
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.