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

JSON-LD (schema.org)

{
  "@context": "https://schema.org/", 
  "@id": 45455, 
  "@type": "ScholarlyArticle", 
  "creator": [
    {
      "@type": "Person", 
      "affiliation": "Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey", 
      "name": "Usluer, Sunay"
    }, 
    {
      "@type": "Person", 
      "name": "Kayserili, Melek Asli"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey", 
      "name": "Eken, Asli Gundogdu"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Dokuz Eylul Univ, Sch Med, Div Child Neurol, Dept Pediat, Izmir, Turkey", 
      "name": "Yis, Uluc"
    }, 
    {
      "@type": "Person", 
      "name": "Leu, Costin"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Univ Cologne, Cologne Ctr Genom, Cologne, Germany", 
      "name": "Altmueller, Janine"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Univ Cologne, Cologne Ctr Genom, Cologne, Germany", 
      "name": "Thiele, Holger"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Univ Cologne, Cologne Ctr Genom, Cologne, Germany", 
      "name": "Nuernberg, Peter"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Univ Cologne, Cologne Ctr Genom, Cologne, Germany", 
      "name": "Sander, Thomas"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey", 
      "name": "Caglayan, S. Hande"
    }
  ], 
  "datePublished": "2017-01-01", 
  "description": "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>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.", 
  "headline": "Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE)", 
  "identifier": 45455, 
  "image": "https://aperta.ulakbim.gov.tr/static/img/logo/aperta_logo_with_icon.svg", 
  "license": "http://www.opendefinition.org/licenses/cc-by", 
  "name": "Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE)", 
  "url": "https://aperta.ulakbim.gov.tr/record/45455"
}