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Journal Abstract Search

1397 related items for PubMed ID: 28379373

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. 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
    [Abstract] [Full Text] [Related]

  • 23. Lacosamide for SCN2A-related intractable neonatal and infantile seizures.
    Flor-Hirsch H, Heyman E, Livneh A, Reish O, Watemberg N, Litmanovits I, Ben Sason Lilli A, Lev D, Lerman Sagie T, Bassan H.
    Epileptic Disord; 2018 Oct 01; 20(5):440-446. PubMed ID: 30361185
    [Abstract] [Full Text] [Related]

  • 24. 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 01; 17(8):e12456. PubMed ID: 29314583
    [Abstract] [Full Text] [Related]

  • 25. Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum.
    Suddaby JS, Silver J, So J.
    Psychiatr Genet; 2019 Jun 01; 29(3):91-94. PubMed ID: 30741786
    [Abstract] [Full Text] [Related]

  • 26. Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.
    Saitoh M, Ishii A, Ihara Y, Hoshino A, Terashima H, Kubota M, Kikuchi K, Yamanaka G, Amemiya K, Hirose S, Mizuguchi M.
    Epilepsy Res; 2015 Nov 01; 117():1-6. PubMed ID: 26311622
    [Abstract] [Full Text] [Related]

  • 27. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
    Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G.
    Brain; 2021 Dec 31; 144(12):3635-3650. PubMed ID: 34114611
    [Abstract] [Full Text] [Related]

  • 28. CaMKII modulates sodium current in neurons from epileptic Scn2a mutant mice.
    Thompson CH, Hawkins NA, Kearney JA, George AL.
    Proc Natl Acad Sci U S A; 2017 Feb 14; 114(7):1696-1701. PubMed ID: 28137877
    [Abstract] [Full Text] [Related]

  • 29. Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.
    Rhodes TH, Vanoye CG, Ohmori I, Ogiwara I, Yamakawa K, George AL.
    J Physiol; 2005 Dec 01; 569(Pt 2):433-45. PubMed ID: 16210358
    [Abstract] [Full Text] [Related]

  • 30. 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 01; 483():14-19. PubMed ID: 29649454
    [Abstract] [Full Text] [Related]

  • 31. Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population.
    Dong R, Jin R, Zhang H, Zhang H, Xue M, Li Y, Zhang K, Lv Y, Li X, Liu Y, Gai Z.
    J Hum Genet; 2024 Sep 01; 69(9):441-453. PubMed ID: 38880818
    [Abstract] [Full Text] [Related]

  • 32. Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.
    Denis J, Villeneuve N, Cacciagli P, Mignon-Ravix C, Lacoste C, Lefranc J, Napuri S, Damaj L, Villega F, Pedespan JM, Moutton S, Mignot C, Doummar D, Lion-François L, Gataullina S, Dulac O, Martin M, Gueden S, Lesca G, Julia S, Cances C, Journel H, Altuzarra C, Ben Zeev B, Afenjar A, Barth M, Villard L, Milh M.
    Epilepsia; 2019 May 01; 60(5):845-856. PubMed ID: 31026061
    [Abstract] [Full Text] [Related]

  • 33. SCN2A channelopathies: Mechanisms and models.
    Hedrich UBS, Lauxmann S, Lerche H.
    Epilepsia; 2019 Dec 01; 60 Suppl 3():S68-S76. PubMed ID: 31904120
    [Abstract] [Full Text] [Related]

  • 34. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
    Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M, Cestèle S.
    Brain; 2022 Nov 21; 145(11):3816-3831. PubMed ID: 35696452
    [Abstract] [Full Text] [Related]

  • 35. 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 27; 25(1):6. PubMed ID: 30813884
    [Abstract] [Full Text] [Related]

  • 36. Voltage-gated sodium channel epilepsies in a tertiary care center: Phenotypic spectrum with correlation to predicted functional effects.
    Kurekci F, Akif Kilic M, Akbas S, Avci R, Oney C, Dilruba Aslanger A, Maras Genc H, Aydinli N, Pembegul Yildiz E.
    Epilepsy Behav; 2024 Sep 27; 158():109930. PubMed ID: 38964184
    [Abstract] [Full Text] [Related]

  • 37. Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.
    Matricardi S, Cestèle S, Trivisano M, Kassabian B, Leroudier N, Vittorini R, Nosadini M, Cesaroni E, Siliquini S, Marinaccio C, Longaretti F, Podestà B, Operto FF, Luisi C, Sartori S, Boniver C, Specchio N, Vigevano F, Marini C, Mantegazza M.
    Epilepsia; 2023 May 27; 64(5):1331-1347. PubMed ID: 36636894
    [Abstract] [Full Text] [Related]

  • 38. 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 27; 599(18):4375-4388. PubMed ID: 34287911
    [Abstract] [Full Text] [Related]

  • 39. SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet.
    Su DJ, Lu JF, Lin LJ, Liang JS, Hung KL.
    Brain Dev; 2018 Sep 27; 40(8):724-727. PubMed ID: 29625812
    [Abstract] [Full Text] [Related]

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