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Articles published in PLoS Genet

Retrieve available abstracts of 9 articles:
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Single Articles


    June 2021
  1. SUN JH, Chen J, Ayala Valenzuela FE, Brown C, et al
    X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.
    PLoS Genet. 2021;17:e1009608.
    PubMed     Abstract available


    January 2021
  2. VOSKOBIYNYK Y, Battu G, Felker SA, Cochran JN, et al
    Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy.
    PLoS Genet. 2021;17:e1009195.
    PubMed     Abstract available


  3. HELBIG I, Goldberg E
    The dose makes the poison-Novel insights into Dravet syndrome and SCN1A regulation through nonproductive splicing.
    PLoS Genet. 2021;17:e1009214.
    PubMed    


    November 2020
  4. FASHAM J, Leslie JS, Harrison JW, Deline J, et al
    No association between SCN9A and monogenic human epilepsy disorders.
    PLoS Genet. 2020;16:e1009161.
    PubMed     Abstract available


    January 2020
  5. LIN L, Lyu Q, Kwan PY, Zhao J, et al
    The epilepsy and intellectual disability-associated protein TBC1D24 regulates the maintenance of excitatory synapses and animal behaviors.
    PLoS Genet. 2020;16:e1008587.
    PubMed     Abstract available


    December 2018
  6. TOMA C, Pierce KD, Shaw AD, Heath A, et al
    Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.
    PLoS Genet. 2018;14:e1007535.
    PubMed     Abstract available


    April 2018
  7. MONLONG J, Girard SL, Meloche C, Cadieux-Dion M, et al
    Global characterization of copy number variants in epilepsy patients from whole genome sequencing.
    PLoS Genet. 2018;14:e1007285.
    PubMed     Abstract available


    November 2017
  8. ZHU X, Padmanabhan R, Copeland B, Bridgers J, et al
    A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
    PLoS Genet. 2017;13:e1007104.
    PubMed     Abstract available


    October 2016
  9. HAWKINS NA, Zachwieja NJ, Miller AR, Anderson LL, et al
    Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq.
    PLoS Genet. 2016;12:e1006398.
    PubMed     Abstract available


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