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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

1041 related articles for article (PubMed ID: 31904117)

  • 21. From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit.
    Hoffman-Zacharska D; Szczepanik E; Terczynska I; Goszczanska-Ciuchta A; Zalewska-Miszkurka Z; Tataj R; Bal J
    Neurol Neurochir Pol; 2015; 49(4):258-66. PubMed ID: 26188943
    [TBL] [Abstract][Full Text] [Related]  

  • 22. SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations.
    Usluer S; Salar S; Arslan M; Yiş U; Kara B; Tektürk P; Baykan B; Meral C; Türkdoğan D; Bebek N; Yalçın Çapan Ö; Gündoğdu Eken A; Çağlayan SH
    Seizure; 2016 Jul; 39():34-43. PubMed ID: 27236449
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus.
    Goldberg-Stern H; Aharoni S; Afawi Z; Bennett O; Appenzeller S; Pendziwiat M; Kuhlenbäumer G; Basel-Vanagaite L; Shuper A; Korczyn AD; Helbig I
    J Child Neurol; 2014 Feb; 29(2):221-6. PubMed ID: 24257433
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Soticlestat, a novel cholesterol 24-hydroxylase inhibitor, reduces seizures and premature death in Dravet syndrome mice.
    Hawkins NA; Jurado M; Thaxton TT; Duarte SE; Barse L; Tatsukawa T; Yamakawa K; Nishi T; Kondo S; Miyamoto M; Abrahams BS; During MJ; Kearney JA
    Epilepsia; 2021 Nov; 62(11):2845-2857. PubMed ID: 34510432
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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; 64(5):1318-1330. PubMed ID: 36287100
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq.
    Hawkins NA; Zachwieja NJ; Miller AR; Anderson LL; Kearney JA
    PLoS Genet; 2016 Oct; 12(10):e1006398. PubMed ID: 27768696
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.
    Hawkins NA; Martin MS; Frankel WN; Kearney JA; Escayg A
    Neurobiol Dis; 2011 Mar; 41(3):655-60. PubMed ID: 21156207
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Not all
    Sadleir LG; Mountier EI; Gill D; Davis S; Joshi C; DeVile C; Kurian MA; ; Mandelstam S; Wirrell E; Nickels KC; Murali HR; Carvill G; Myers CT; Mefford HC; Scheffer IE
    Neurology; 2017 Sep; 89(10):1035-1042. PubMed ID: 28794249
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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; 69(9):441-453. PubMed ID: 38880818
    [TBL] [Abstract][Full Text] [Related]  

  • 30. SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
    van Hugte EJH; Lewerissa EI; Wu KM; Scheefhals N; Parodi G; van Voorst TW; Puvogel S; Kogo N; Keller JM; Frega M; Schubert D; Schelhaas HJ; Verhoeven J; Majoie M; van Bokhoven H; Nadif Kasri N
    Brain; 2023 Dec; 146(12):5153-5167. PubMed ID: 37467479
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Dravet syndrome and its mimics: Beyond SCN1A.
    Steel D; Symonds JD; Zuberi SM; Brunklaus A
    Epilepsia; 2017 Nov; 58(11):1807-1816. PubMed ID: 28880996
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
    Scheffer IE; Zhang YH; Jansen FE; Dibbens L
    Brain Dev; 2009 May; 31(5):394-400. PubMed ID: 19203856
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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; 117():1-6. PubMed ID: 26311622
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Sodium channel SCN1A and epilepsy: mutations and mechanisms.
    Escayg A; Goldin AL
    Epilepsia; 2010 Sep; 51(9):1650-8. PubMed ID: 20831750
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Myoclonic Absence Seizures in Dravet Syndrome.
    Myers KA; Scheffer IE
    Pediatr Neurol; 2017 May; 70():67-69. PubMed ID: 28233668
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
    Mulley JC; Hodgson B; McMahon JM; Iona X; Bellows S; Mullen SA; Farrell K; Mackay M; Sadleir L; Bleasel A; Gill D; Webster R; Wirrell EC; Harbord M; Sisodiya S; Andermann E; Kivity S; Berkovic SF; Scheffer IE; Dibbens LM
    Epilepsia; 2013 Sep; 54(9):e122-6. PubMed ID: 23895530
    [TBL] [Abstract][Full Text] [Related]  

  • 37. De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS+).
    Jaimes A; Guerrero-López R; González-Giráldez B; Serratosa JM
    Epileptic Disord; 2020 Jun; 22(3):323-326. PubMed ID: 32540801
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants.
    Rampazzo ACM; Dos Santos RRP; Maluf FA; Simm RF; Marson FAL; Ortega MM; de Aguiar PHP
    Neurogenetics; 2021 May; 22(2):105-115. PubMed ID: 33937968
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Life-span characterization of epilepsy and comorbidities in Dravet syndrome mice carrying a targeted deletion of exon 1 of the Scn1a gene.
    Gerbatin RR; Augusto J; Boutouil H; Reschke CR; Henshall DC
    Exp Neurol; 2022 Aug; 354():114090. PubMed ID: 35487274
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+).
    Ma H; Guo Y; Chen Z; Wang L; Tang Z; Zhang J; Miao Q; Zhai Q
    Seizure; 2021 May; 88():146-152. PubMed ID: 33895391
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 53.