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.


Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

193 related articles for article (PubMed ID: 38425576)

  • 1. Epilepsy and sudden unexpected death in epilepsy in a mouse model of human
    Chen C; Ziobro J; Robinson-Cooper L; Hodges SL; Chen Y; Edokobi N; Lopez-Santiago L; Habig K; Moore C; Minton J; Bramson S; Scheuing C; Daddo N; Štěrbová K; Weckhuysen S; Parent JM; Isom LL
    Brain Commun; 2023; 5(6):fcad283. PubMed ID: 38425576
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.
    Darras N; Ha TK; Rego S; Martin PM; Barroso E; Slavotinek AM; Cilio MR
    Am J Med Genet A; 2019 Nov; 179(11):2190-2195. PubMed ID: 31465153
    [TBL] [Abstract][Full Text] [Related]  

  • 3. β1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function.
    Kruger LC; O'Malley HA; Hull JM; Kleeman A; Patino GA; Isom LL
    J Neurosci; 2016 Jun; 36(23):6213-24. PubMed ID: 27277800
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A functional null mutation of SCN1B in a patient with Dravet syndrome.
    Patino GA; Claes LR; Lopez-Santiago LF; Slat EA; Dondeti RS; Chen C; O'Malley HA; Gray CB; Miyazaki H; Nukina N; Oyama F; De Jonghe P; Isom LL
    J Neurosci; 2009 Aug; 29(34):10764-78. PubMed ID: 19710327
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function.
    Scala M; Efthymiou S; Sultan T; De Waele J; Panciroli M; Salpietro V; Maroofian R; Striano P; Van Petegem F; Houlden H; Bosmans F
    Epilepsia; 2021 Jun; 62(6):e82-e87. PubMed ID: 33901312
    [TBL] [Abstract][Full Text] [Related]  

  • 6. SCN1B-linked early infantile developmental and epileptic encephalopathy.
    Aeby A; Sculier C; Bouza AA; Askar B; Lederer D; Schoonjans AS; Vander Ghinst M; Ceulemans B; Offord J; Lopez-Santiago LF; Isom LL
    Ann Clin Transl Neurol; 2019 Dec; 6(12):2354-2367. PubMed ID: 31709768
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Complex Synaptic and Intrinsic Interactions Disrupt Input/Output Functions in the Hippocampus of
    Chancey JH; Ahmed AA; Guillén FI; Ghatpande V; Howard MA
    J Neurosci; 2023 Dec; 43(49):8562-8577. PubMed ID: 37845033
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Excitatory and inhibitory neuron defects in a mouse model of Scn1b-linked EIEE52.
    Hull JM; O'Malley HA; Chen C; Yuan Y; Denomme N; Bouza AA; Anumonwo C; Lopez-Santiago LF; Isom LL
    Ann Clin Transl Neurol; 2020 Nov; 7(11):2137-2149. PubMed ID: 32979291
    [TBL] [Abstract][Full Text] [Related]  

  • 9. SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy.
    Zhu Z; Bolt E; Newmaster K; Osei-Bonsu W; Cohen S; Cuddapah VA; Gupta S; Paudel S; Samanta D; Dang LT; Carney PR; Naik S
    Children (Basel); 2022 Oct; 9(10):. PubMed ID: 36291443
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome.
    Ogiwara I; Nakayama T; Yamagata T; Ohtani H; Mazaki E; Tsuchiya S; Inoue Y; Yamakawa K
    Epilepsia; 2012 Dec; 53(12):e200-3. PubMed ID: 23148524
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel rat model of Dravet syndrome recapitulates clinical hallmarks.
    Li M; Yang L; Qian W; Ray S; Lu Z; Liu T; Zou YY; Naumann RK; Wang H
    Neurobiol Dis; 2023 Aug; 184():106193. PubMed ID: 37295561
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Delayed maturation of GABAergic signaling in the Scn1a and Scn1b mouse models of Dravet Syndrome.
    Yuan Y; O'Malley HA; Smaldino MA; Bouza AA; Hull JM; Isom LL
    Sci Rep; 2019 Apr; 9(1):6210. PubMed ID: 30996233
    [TBL] [Abstract][Full Text] [Related]  

  • 13.
    O'Malley HA; Hull JM; Clawson BC; Chen C; Owens-Fiestan G; Jameson MB; Aton SJ; Parent JM; Isom LL
    Ann Clin Transl Neurol; 2019 Jun; 6(6):1121-1126. PubMed ID: 31211177
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Sodium channel β1 subunits participate in regulated intramembrane proteolysis-excitation coupling.
    Bouza AA; Edokobi N; Hodges SL; Pinsky AM; Offord J; Piao L; Zhao YT; Lopatin AN; Lopez-Santiago LF; Isom LL
    JCI Insight; 2021 Feb; 6(3):. PubMed ID: 33411695
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Dravet Syndrome: A Developmental and Epileptic Encephalopathy.
    Lopez-Santiago L; Isom LL
    Epilepsy Curr; 2019 Jan; 19(1):51-53. PubMed ID: 30838929
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Scn1b deletion leads to increased tetrodotoxin-sensitive sodium current, altered intracellular calcium homeostasis and arrhythmias in murine hearts.
    Lin X; O'Malley H; Chen C; Auerbach D; Foster M; Shekhar A; Zhang M; Coetzee W; Jalife J; Fishman GI; Isom L; Delmar M
    J Physiol; 2015 Mar; 593(6):1389-407. PubMed ID: 25772295
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Fine mapping and candidate gene analysis of a dravet syndrome modifier locus on mouse chromosome 11.
    Kearney JA; Copeland-Hardin LD; Duarte S; Zachwieja NA; Eckart-Frank IK; Hawkins NA
    Mamm Genome; 2022 Dec; 33(4):565-574. PubMed ID: 35606653
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Sodium channel β1 subunits are post-translationally modified by tyrosine phosphorylation,
    Bouza AA; Philippe JM; Edokobi N; Pinsky AM; Offord J; Calhoun JD; Lopez-Florán M; Lopez-Santiago LF; Jenkins PM; Isom LL
    J Biol Chem; 2020 Jul; 295(30):10380-10393. PubMed ID: 32503841
    [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 10.