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

Citation Style Language JSON

{
  "DOI": "10.1016/j.ejpn.2017.05.001", 
  "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>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.", 
  "author": [
    {
      "family": "Usluer", 
      "given": " Sunay"
    }, 
    {
      "family": "Kayserili", 
      "given": " Melek Asli"
    }, 
    {
      "family": "Eken", 
      "given": " Asli Gundogdu"
    }, 
    {
      "family": "Yis", 
      "given": " Uluc"
    }, 
    {
      "family": "Leu", 
      "given": " Costin"
    }, 
    {
      "family": "Altmueller", 
      "given": " Janine"
    }, 
    {
      "family": "Thiele", 
      "given": " Holger"
    }, 
    {
      "family": "Nuernberg", 
      "given": " Peter"
    }, 
    {
      "family": "Sander", 
      "given": " Thomas"
    }, 
    {
      "family": "Caglayan", 
      "given": " S. Hande"
    }
  ], 
  "container_title": "EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY", 
  "id": "45455", 
  "issue": "5", 
  "issued": {
    "date-parts": [
      [
        2017, 
        1, 
        1
      ]
    ]
  }, 
  "page": "773-782", 
  "title": "Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE)", 
  "type": "article-journal", 
  "volume": "21"
}