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Journal Abstract Search

501 related items for PubMed ID: 32090326

  • 21. 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]

  • 22. Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.
    Mangano GD, Fontana A, Antona V, Salpietro V, Mangano GR, Giuffrè M, Nardello R.
    Mol Genet Genomic Med; 2022 May 01; 10(5):e1911. PubMed ID: 35348308
    [Abstract] [Full Text] [Related]

  • 23. Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series.
    Seiffert S, Pendziwiat M, Bierhals T, Goel H, Schwarz N, van der Ven A, Boßelmann CM, Lemke J, Syrbe S, Willemsen MH, Hedrich UBS, Helbig I, Weber Y.
    EBioMedicine; 2022 Sep 01; 83():104234. PubMed ID: 36029553
    [Abstract] [Full Text] [Related]

  • 24. The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.
    Martin MS, Tang B, Papale LA, Yu FH, Catterall WA, Escayg A.
    Hum Mol Genet; 2007 Dec 01; 16(23):2892-9. PubMed ID: 17881658
    [Abstract] [Full Text] [Related]

  • 25. SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
    Zaman T, Helbig KL, Clatot J, Thompson CH, Kang SK, Stouffs K, Jansen AE, Verstraete L, Jacquinet A, Parrini E, Guerrini R, Fujiwara Y, Miyatake S, Ben-Zeev B, Bassan H, Reish O, Marom D, Hauser N, Vu TA, Ackermann S, Spencer CE, Lippa N, Srinivasan S, Charzewska A, Hoffman-Zacharska D, Fitzpatrick D, Harrison V, Vasudevan P, Joss S, Pilz DT, Fawcett KA, Helbig I, Matsumoto N, Kearney JA, Fry AE, Goldberg EM.
    Ann Neurol; 2020 Aug 01; 88(2):348-362. PubMed ID: 32515017
    [Abstract] [Full Text] [Related]

  • 26. Sodium channel epilepsies and neurodevelopmental disorders: from disease mechanisms to clinical application.
    Brunklaus A, Lal D.
    Dev Med Child Neurol; 2020 Jul 01; 62(7):784-792. PubMed ID: 32227486
    [Abstract] [Full Text] [Related]

  • 27. SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy.
    Clatot J, Parthasarathy S, Cohen S, McKee JL, Massey S, Somarowthu A, Goldberg EM, Helbig I.
    Epilepsia; 2023 May 01; 64(5):1318-1330. PubMed ID: 36287100
    [Abstract] [Full Text] [Related]

  • 28. Variable patterns of mutation density among NaV1.1, NaV1.2 and NaV1.6 point to channel-specific functional differences associated with childhood epilepsy.
    Encinas AC, Watkins JC, Longoria IA, Johnson JP, Hammer MF.
    PLoS One; 2020 May 01; 15(8):e0238121. PubMed ID: 32845893
    [Abstract] [Full Text] [Related]

  • 29. SCN3A deficiency associated with increased seizure susceptibility.
    Lamar T, Vanoye CG, Calhoun J, Wong JC, Dutton SBB, Jorge BS, Velinov M, Escayg A, Kearney JA.
    Neurobiol Dis; 2017 Jun 01; 102():38-48. PubMed ID: 28235671
    [Abstract] [Full Text] [Related]

  • 30. 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]

  • 31. Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A.
    Chen YJ, Shi YW, Xu HQ, Chen ML, Gao MM, Sun WW, Tang B, Zeng Y, Liao WP.
    Mol Neurobiol; 2015 Nov 01; 51(3):1263-70. PubMed ID: 24990319
    [Abstract] [Full Text] [Related]

  • 32. Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature.
    Inuzuka LM, Macedo-Souza LI, Della-Ripa B, Cabral KSS, Monteiro F, Kitajima JP, de Souza Godoy LF, de Souza Delgado D, Kok F, Garzon E.
    Brain Dev; 2020 Feb 01; 42(2):211-216. PubMed ID: 31677917
    [Abstract] [Full Text] [Related]

  • 33. Gene variant effects across sodium channelopathies predict function and guide precision therapy.
    Brunklaus A, Feng T, Brünger T, Perez-Palma E, Heyne H, Matthews E, Semsarian C, Symonds JD, Zuberi SM, Lal D, Schorge S.
    Brain; 2022 Dec 19; 145(12):4275-4286. PubMed ID: 35037686
    [Abstract] [Full Text] [Related]

  • 34. Genotype-phenotype correlations in Polish patients with SCN8A-related epilepsy: A multicentre observational study.
    Paprocka J, Steinborn B, Krygier M, Winczewska-Wiktor A, Przyslo L, Hutny M, Hoffman-Zacharska D, Mazurkiewicz H, Kochanowska I, Zebrowska J, Zawadzka M, Piasecki L, Mazurkiewicz-Beldzinska M.
    Seizure; 2024 Aug 19; 120():201-209. PubMed ID: 39047613
    [Abstract] [Full Text] [Related]

  • 35. 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 19; 64(5):1331-1347. PubMed ID: 36636894
    [Abstract] [Full Text] [Related]

  • 36. Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.
    Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R.
    Seizure; 2018 Aug 19; 60():91-93. PubMed ID: 29929112
    [Abstract] [Full Text] [Related]

  • 37. 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 19; 60 Suppl 3():S59-S67. PubMed ID: 31904126
    [Abstract] [Full Text] [Related]

  • 38. Mutations in SCN3A cause early infantile epileptic encephalopathy.
    Zaman T, Helbig I, Božović IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM.
    Ann Neurol; 2018 Apr 19; 83(4):703-717. PubMed ID: 29466837
    [Abstract] [Full Text] [Related]

  • 39. "Virtual patch clamp analysis" for predicting the functional significance of pathogenic variants in sodium channels.
    Bielopolski N, Heyman E, Bassan H, BenZeev B, Tzadok M, Ginsberg M, Blumkin L, Michaeli Y, Sokol R, Yosha-Orpaz N, Hady-Cohen R, Banne E, Lev D, Lerman-Sagie T, Wald-Altman S, Nissenkorn A.
    Epilepsy Res; 2022 Oct 19; 186():107002. PubMed ID: 36027690
    [Abstract] [Full Text] [Related]

  • 40. Physiological and genetic analysis of multiple sodium channel variants in a model of genetic absence epilepsy.
    Oliva MK, McGarr TC, Beyer BJ, Gazina E, Kaplan DI, Cordeiro L, Thomas E, Dib-Hajj SD, Waxman SG, Frankel WN, Petrou S.
    Neurobiol Dis; 2014 Jul 19; 67():180-90. PubMed ID: 24657915
    [Abstract] [Full Text] [Related]

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