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 *

170 related articles for article (PubMed ID: 37186029)

  • 1. Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion.
    Sparber P; Bychkov I; Pyankov D; Skoblov M
    Hum Genet; 2023 Aug; 142(8):1043-1053. PubMed ID: 37186029
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy.
    Voskobiynyk Y; Battu G; Felker SA; Cochran JN; Newton MP; Lambert LJ; Kesterson RA; Myers RM; Cooper GM; Roberson ED; Barsh GS
    PLoS Genet; 2021 Jan; 17(1):e1009195. PubMed ID: 33411788
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
    Carvill GL; Engel KL; Ramamurthy A; Cochran JN; Roovers J; Stamberger H; Lim N; Schneider AL; Hollingsworth G; Holder DH; Regan BM; Lawlor J; Lagae L; Ceulemans B; Bebin EM; Nguyen J; ; Barsh GS; Weckhuysen S; Meisler M; Berkovic SF; De Jonghe P; Scheffer IE; Myers RM; Cooper GM; Mefford HC
    Am J Hum Genet; 2018 Dec; 103(6):1022-1029. PubMed ID: 30526861
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Antisense oligonucleotides restore excitability, GABA signalling and sodium current density in a Dravet syndrome model.
    Yuan Y; Lopez-Santiago L; Denomme N; Chen C; O'Malley HA; Hodges SL; Ji S; Han Z; Christiansen A; Isom LL
    Brain; 2024 Apr; 147(4):1231-1246. PubMed ID: 37812817
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 145(11):3816-3831. PubMed ID: 35696452
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Differences in SCN1A intronic variants result in diverse aberrant splicing patterns and are related to the phenotypes of epilepsy with febrile seizures.
    Zhou X; Xu H; Cai X; Tang B; Liu X; Shi Y; Zheng J; Liao W; Yu L
    Epilepsy Res; 2021 Oct; 176():106711. PubMed ID: 34293681
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.
    Mei D; Cetica V; Marini C; Guerrini R
    Epilepsia; 2019 Dec; 60 Suppl 3():S2-S7. PubMed ID: 31904125
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome.
    Jiang T; Shen Y; Chen H; Yuan Z; Mao S; Gao F
    Medicine (Baltimore); 2018 Dec; 97(50):e13565. PubMed ID: 30558019
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.
    Sparber P; Sharova M; Davydenko K; Pyankov D; Filatova A; Skoblov M
    Brain; 2024 Apr; 147(4):1278-1293. PubMed ID: 37956038
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
    de Lange IM; Koudijs MJ; van 't Slot R; Gunning B; Sonsma ACM; van Gemert LJJM; Mulder F; Carbo EC; van Kempen MJA; Verbeek NE; Nijman IJ; Ernst RF; Savelberg SMC; Knoers NVAM; Brilstra EH; Koeleman BPC
    Epilepsia; 2018 Mar; 59(3):690-703. PubMed ID: 29460957
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Targeted Molecular Strategies for Genetic Neurodevelopmental Disorders: Emerging Lessons from Dravet Syndrome.
    Lersch R; Jannadi R; Grosse L; Wagner M; Schneider MF; von Stülpnagel C; Heinen F; Potschka H; Borggraefe I
    Neuroscientist; 2023 Dec; 29(6):732-750. PubMed ID: 35414300
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Development and Validation of a Prediction Model for Early Diagnosis of
    Brunklaus A; Pérez-Palma E; Ghanty I; Xinge J; Brilstra E; Ceulemans B; Chemaly N; de Lange I; Depienne C; Guerrini R; Mei D; Møller RS; Nabbout R; Regan BM; Schneider AL; Scheffer IE; Schoonjans AS; Symonds JD; Weckhuysen S; Kattan MW; Zuberi SM; Lal D
    Neurology; 2022 Mar; 98(11):e1163-e1174. PubMed ID: 35074891
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing.
    Lee J; Lee C; Park WY; Lee J
    Ann Clin Lab Sci; 2020 Sep; 50(5):625-637. PubMed ID: 33067208
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel variant in the 3' UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH's binding.
    Zeng T; Dong ZF; Liu SJ; Wan RP; Tang LJ; Liu T; Zhao QH; Shi YW; Yi YH; Liao WP; Long YS
    Hum Genet; 2014 Jun; 133(6):801-11. PubMed ID: 24464349
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.
    Hammer MF; Ishii A; Johnstone L; Tchourbanov A; Lau B; Sprissler R; Hallmark B; Zhang M; Zhou J; Watkins J; Hirose S
    PLoS One; 2017; 12(7):e0180485. PubMed ID: 28686619
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection.
    Surovy M; Soltysova A; Kolnikova M; Sykora P; Ilencikova D; Ficek A; Radvanszky J; Kadasi L
    Gen Physiol Biophys; 2016 Jul; 35(3):333-42. PubMed ID: 27045673
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants.
    Hata Y; Oku Y; Taneichi H; Tanaka T; Igarashi N; Niida Y; Nishida N
    Brain Dev; 2020 Feb; 42(2):171-178. PubMed ID: 31677916
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Low incidence of SCN1A genetic mutation in patients with hemiconvulsion-hemiplegia-epilepsy syndrome.
    Kim DW; Lim BC; Kim KJ; Chae JH; Lee R; Lee SK
    Epilepsy Res; 2013 Oct; 106(3):440-5. PubMed ID: 23916143
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mapping genetic modifiers of survival in a mouse model of Dravet syndrome.
    Miller AR; Hawkins NA; McCollom CE; Kearney JA
    Genes Brain Behav; 2014 Feb; 13(2):163-72. PubMed ID: 24152123
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.