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

{
  "conceptrecid": "45454", 
  "created": "2021-03-15T21:35:27.375267+00:00", 
  "doi": "10.1016/j.ejpn.2017.05.001", 
  "files": [
    {
      "bucket": "c8b7dacf-ca2d-4c17-b887-085637de81d8", 
      "checksum": "md5:35f4a5985bc8a2dab4db427e423745d5", 
      "key": "bib-d64bc6bb-0bd7-413e-bb05-552a80d6fe80.txt", 
      "links": {
        "self": "https://aperta.ulakbim.gov.tr/api/files/c8b7dacf-ca2d-4c17-b887-085637de81d8/bib-d64bc6bb-0bd7-413e-bb05-552a80d6fe80.txt"
      }, 
      "size": 309, 
      "type": "txt"
    }
  ], 
  "id": 45455, 
  "links": {
    "badge": "https://aperta.ulakbim.gov.tr/badge/doi/10.1016/j.ejpn.2017.05.001.svg", 
    "bucket": "https://aperta.ulakbim.gov.tr/api/files/c8b7dacf-ca2d-4c17-b887-085637de81d8", 
    "doi": "https://doi.org/10.1016/j.ejpn.2017.05.001", 
    "html": "https://aperta.ulakbim.gov.tr/record/45455", 
    "latest": "https://aperta.ulakbim.gov.tr/api/records/45455", 
    "latest_html": "https://aperta.ulakbim.gov.tr/record/45455"
  }, 
  "metadata": {
    "access_right": "open", 
    "access_right_category": "success", 
    "communities": [
      {
        "id": "tubitak-destekli-proje-yayinlari"
      }
    ], 
    "creators": [
      {
        "affiliation": "Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey", 
        "name": "Usluer, Sunay"
      }, 
      {
        "name": "Kayserili, Melek Asli"
      }, 
      {
        "affiliation": "Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey", 
        "name": "Eken, Asli Gundogdu"
      }, 
      {
        "affiliation": "Dokuz Eylul Univ, Sch Med, Div Child Neurol, Dept Pediat, Izmir, Turkey", 
        "name": "Yis, Uluc"
      }, 
      {
        "name": "Leu, Costin"
      }, 
      {
        "affiliation": "Univ Cologne, Cologne Ctr Genom, Cologne, Germany", 
        "name": "Altmueller, Janine"
      }, 
      {
        "affiliation": "Univ Cologne, Cologne Ctr Genom, Cologne, Germany", 
        "name": "Thiele, Holger"
      }, 
      {
        "affiliation": "Univ Cologne, Cologne Ctr Genom, Cologne, Germany", 
        "name": "Nuernberg, Peter"
      }, 
      {
        "affiliation": "Univ Cologne, Cologne Ctr Genom, Cologne, Germany", 
        "name": "Sander, Thomas"
      }, 
      {
        "affiliation": "Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey", 
        "name": "Caglayan, S. Hande"
      }
    ], 
    "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.", 
    "doi": "10.1016/j.ejpn.2017.05.001", 
    "has_grant": false, 
    "journal": {
      "issue": "5", 
      "pages": "773-782", 
      "title": "EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY", 
      "volume": "21"
    }, 
    "license": {
      "id": "cc-by"
    }, 
    "publication_date": "2017-01-01", 
    "relations": {
      "version": [
        {
          "count": 1, 
          "index": 0, 
          "is_last": true, 
          "last_child": {
            "pid_type": "recid", 
            "pid_value": "45455"
          }, 
          "parent": {
            "pid_type": "recid", 
            "pid_value": "45454"
          }
        }
      ]
    }, 
    "resource_type": {
      "subtype": "article", 
      "title": "Dergi makalesi", 
      "type": "publication"
    }, 
    "title": "Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE)"
  }, 
  "owners": [
    1
  ], 
  "revision": 1, 
  "stats": {
    "downloads": 8.0, 
    "unique_downloads": 8.0, 
    "unique_views": 57.0, 
    "version_downloads": 8.0, 
    "version_unique_downloads": 8.0, 
    "version_unique_views": 36.0, 
    "version_views": 40.0, 
    "version_volume": 2472.0, 
    "views": 63.0, 
    "volume": 2472.0
  }, 
  "updated": "2021-03-15T21:35:27.421149+00:00"
}