1 Ocak 2017 Dergi makalesi Açık Erişim

Usluer, Sunay; Kayserili, Melek Asli; Eken, Asli Gundogdu; Yis, Uluc; Leu, Costin; Altmueller, Janine; Thiele, Holger; Nuernberg, Peter; Sander, Thomas; Caglayan, S. Hande

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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/45455</identifier>
  <creators>
    <creator>
      <creatorName>Usluer, Sunay</creatorName>
      <givenName>Sunay</givenName>
      <familyName>Usluer</familyName>
      <affiliation>Bogazici Univ, Dept Mol Biol &amp; Genet, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Kayserili, Melek Asli</creatorName>
      <givenName>Melek Asli</givenName>
      <familyName>Kayserili</familyName>
    </creator>
    <creator>
      <creatorName>Eken, Asli Gundogdu</creatorName>
      <givenName>Asli Gundogdu</givenName>
      <familyName>Eken</familyName>
      <affiliation>Bogazici Univ, Dept Mol Biol &amp; Genet, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Yis, Uluc</creatorName>
      <givenName>Uluc</givenName>
      <familyName>Yis</familyName>
      <affiliation>Dokuz Eylul Univ, Sch Med, Div Child Neurol, Dept Pediat, Izmir, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Leu, Costin</creatorName>
      <givenName>Costin</givenName>
      <familyName>Leu</familyName>
    </creator>
    <creator>
      <creatorName>Altmueller, Janine</creatorName>
      <givenName>Janine</givenName>
      <familyName>Altmueller</familyName>
      <affiliation>Univ Cologne, Cologne Ctr Genom, Cologne, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Thiele, Holger</creatorName>
      <givenName>Holger</givenName>
      <familyName>Thiele</familyName>
      <affiliation>Univ Cologne, Cologne Ctr Genom, Cologne, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Nuernberg, Peter</creatorName>
      <givenName>Peter</givenName>
      <familyName>Nuernberg</familyName>
      <affiliation>Univ Cologne, Cologne Ctr Genom, Cologne, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Sander, Thomas</creatorName>
      <givenName>Thomas</givenName>
      <familyName>Sander</familyName>
      <affiliation>Univ Cologne, Cologne Ctr Genom, Cologne, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Caglayan, S. Hande</creatorName>
      <givenName>S. Hande</givenName>
      <familyName>Caglayan</familyName>
      <affiliation>Bogazici Univ, Dept Mol Biol &amp; Genet, Istanbul, Turkey</affiliation>
    </creator>
  </creators>
  <titles>
    <title>Association Of A Synonymous Scn1B Variant Affecting Splicing Efficiency With Benign Familial Infantile Epilepsy (Bfie)</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2017</publicationYear>
  <dates>
    <date dateType="Issued">2017-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/45455</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1016/j.ejpn.2017.05.001</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">Benign Familial Infantile Epilepsy (BFIE) is clinically characterized by clusters of brief partial seizures progressing to secondarily generalized seizures with onset at the age of 3-7 months and with favorable outcome. PRRT2 mutations are the most common cause of BFIE, and found in about 80% of BFIE families. In this study, we analyzed a large multiplex BFIE family by linkage and whole exome sequencing (WES) analyses. Genome-wide linkage analysis revealed significant evidence for linkage in the chromosomal region 19p12-q13 (LOD score 3.48). Mutation screening of positional candidate genes identified a synonymous SCN1B variant (c.492T&amp;gt;C, p.Tyr164Tyr) affecting splicing by the removal of a splicing silencer sequence, shown by in silico analysis, as the most likely causative mutation. In addition, the PRRT2 frameshift mutation (c.649dupC/p.Arg217Profs*8) was observed, showing incomplete, but high segregation with the phenotype. In vitro splicing assay of SCN1B expression confirmed the in silico findings showing a splicing imbalance between wild type and mutant exons. Herein, the involvement of the SCN1B gene in the etiology of BFIE, contributing to the disease phenotype as a modifier or part of an oligogenic predisposition, is shown for the first time. (C) 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.</description>
  </descriptions>
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