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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

172 related items for PubMed ID: 37578743

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. Epilepsy-associated SCN2A (Na V 1.2) Variants Exhibit Diverse and Complex Functional Properties.
    Thompson CH, Potet F, Abramova TV, DeKeyser JM, Ghabra NF, Vanoye CG, Millichap J, George AL.
    bioRxiv; 2023 Feb 23. PubMed ID: 36865317
    [Abstract] [Full Text] [Related]

  • 3. Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.
    Ben-Shalom R, Keeshen CM, Berrios KN, An JY, Sanders SJ, Bender KJ.
    Biol Psychiatry; 2017 Aug 01; 82(3):224-232. PubMed ID: 28256214
    [Abstract] [Full Text] [Related]

  • 4. SCN2A-related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects.
    Yang XR, Ginjupalli VKM, Theriault O, Poulin H, Appendino JP, Au PYB, Chahine M.
    J Neurophysiol; 2022 May 01; 127(5):1388-1397. PubMed ID: 35417276
    [Abstract] [Full Text] [Related]

  • 5. Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.
    Berg AT, Thompson CH, Myers LS, Anderson E, Evans L, Kaiser AJE, Paltell K, Nili AN, DeKeyser JL, Abramova TV, Nesbitt G, Egan SM, Vanoye CG, George AL.
    Brain; 2024 Aug 01; 147(8):2761-2774. PubMed ID: 38651838
    [Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. 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 01; 140(5):1316-1336. PubMed ID: 28379373
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 599(18):4375-4388. PubMed ID: 34287911
    [Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12. 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 08; 41(49):10194-10208. PubMed ID: 34716231
    [Abstract] [Full Text] [Related]

  • 13. Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.
    Asadollahi R, Delvendahl I, Muff R, Tan G, Rodríguez DG, Turan S, Russo M, Oneda B, Joset P, Boonsawat P, Masood R, Mocera M, Ivanovski I, Baumer A, Bachmann-Gagescu R, Schlapbach R, Rehrauer H, Steindl K, Begemann A, Reis A, Winkler J, Winner B, Müller M, Rauch A.
    Hum Mol Genet; 2023 Jun 19; 32(13):2192-2204. PubMed ID: 37010102
    [Abstract] [Full Text] [Related]

  • 14. Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants.
    Thompson CH, Ben-Shalom R, Bender KJ, George AL.
    J Gen Physiol; 2020 Mar 02; 152(3):. PubMed ID: 31995133
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. SCN2A channelopathies: Mechanisms and models.
    Hedrich UBS, Lauxmann S, Lerche H.
    Epilepsia; 2019 Dec 02; 60 Suppl 3():S68-S76. PubMed ID: 31904120
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. Scn2a severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors.
    Wang HG, Bavley CC, Li A, Jones RM, Hackett J, Bayleyen Y, Lee FS, Rajadhyaksha AM, Pitt GS.
    JCI Insight; 2021 Aug 09; 6(15):. PubMed ID: 34156984
    [Abstract] [Full Text] [Related]

  • 20. 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 09; 60 Suppl 3():S59-S67. PubMed ID: 31904126
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.