1 Ocak 2013 Dergi makalesi Açık Erişim

Suls, Arvid; Jaehn, Johanna A.; Kecskes, Angela; Weber, Yvonne; Weckhuysen, Sarah; Craiu, Dana C.; Siekierska, Aleksandra; Djemie, Tania; Afrikanova, Tatiana; Gormley, Padhraig; von Spiczak, Sarah; Kluger, Gerhard; Iliescu, Catrinel M.; Talvik, Tiina; Talvik, Inga; Meral, Cihan; Caglayan, Hande S.; Giraldez, Beatriz G.; Serratosa, Jose; Lemke, Johannes R.; Lemke, Johannes R.

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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/12867</identifier>
  <creators>
    <creator>
      <creatorName>Suls, Arvid</creatorName>
      <givenName>Arvid</givenName>
      <familyName>Suls</familyName>
    </creator>
    <creator>
      <creatorName>Jaehn, Johanna A.</creatorName>
      <givenName>Johanna A.</givenName>
      <familyName>Jaehn</familyName>
      <affiliation>Univ Kiel, Univ Med Ctr Schleswig Holstein, D-24105 Kiel, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Kecskes, Angela</creatorName>
      <givenName>Angela</givenName>
      <familyName>Kecskes</familyName>
      <affiliation>Univ Louvain, Dept Pharmaceut &amp; Pharmacol Sci, Lab Mol Biodiscovery, B-3000 Louvain, Belgium</affiliation>
    </creator>
    <creator>
      <creatorName>Weber, Yvonne</creatorName>
      <givenName>Yvonne</givenName>
      <familyName>Weber</familyName>
      <affiliation>Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol &amp; Epileptol, D-72076 Tubingen, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Weckhuysen, Sarah</creatorName>
      <givenName>Sarah</givenName>
      <familyName>Weckhuysen</familyName>
    </creator>
    <creator>
      <creatorName>Craiu, Dana C.</creatorName>
      <givenName>Dana C.</givenName>
      <familyName>Craiu</familyName>
    </creator>
    <creator>
      <creatorName>Siekierska, Aleksandra</creatorName>
      <givenName>Aleksandra</givenName>
      <familyName>Siekierska</familyName>
      <affiliation>Univ Louvain, Dept Pharmaceut &amp; Pharmacol Sci, Lab Mol Biodiscovery, B-3000 Louvain, Belgium</affiliation>
    </creator>
    <creator>
      <creatorName>Djemie, Tania</creatorName>
      <givenName>Tania</givenName>
      <familyName>Djemie</familyName>
    </creator>
    <creator>
      <creatorName>Afrikanova, Tatiana</creatorName>
      <givenName>Tatiana</givenName>
      <familyName>Afrikanova</familyName>
      <affiliation>Univ Louvain, Dept Pharmaceut &amp; Pharmacol Sci, Lab Mol Biodiscovery, B-3000 Louvain, Belgium</affiliation>
    </creator>
    <creator>
      <creatorName>Gormley, Padhraig</creatorName>
      <givenName>Padhraig</givenName>
      <familyName>Gormley</familyName>
      <affiliation>Wellcome Trust Sanger Inst, Hinxton CB10 1SA, Cambs, England</affiliation>
    </creator>
    <creator>
      <creatorName>von Spiczak, Sarah</creatorName>
      <givenName>Sarah</givenName>
      <familyName>von Spiczak</familyName>
      <affiliation>Univ Kiel, Univ Med Ctr Schleswig Holstein, D-24105 Kiel, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Kluger, Gerhard</creatorName>
      <givenName>Gerhard</givenName>
      <familyName>Kluger</familyName>
      <affiliation>Schon Klin Vogtareuth, Tagesklin Neuropadiatrie, Epilepsiezentrum Kinder &amp; Jugendliche, D-83569 Vogtareuth, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Iliescu, Catrinel M.</creatorName>
      <givenName>Catrinel M.</givenName>
      <familyName>Iliescu</familyName>
    </creator>
    <creator>
      <creatorName>Talvik, Tiina</creatorName>
      <givenName>Tiina</givenName>
      <familyName>Talvik</familyName>
    </creator>
    <creator>
      <creatorName>Talvik, Inga</creatorName>
      <givenName>Inga</givenName>
      <familyName>Talvik</familyName>
    </creator>
    <creator>
      <creatorName>Meral, Cihan</creatorName>
      <givenName>Cihan</givenName>
      <familyName>Meral</familyName>
      <affiliation>GATA Haydarpasa Teaching Hosp, Dept Pediat Neurol, TR-34668 Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Caglayan, Hande S.</creatorName>
      <givenName>Hande S.</givenName>
      <familyName>Caglayan</familyName>
      <affiliation>Bogazici Univ, Dept Mol Biol &amp; Genet, TR-34342 Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Giraldez, Beatriz G.</creatorName>
      <givenName>Beatriz G.</givenName>
      <familyName>Giraldez</familyName>
    </creator>
    <creator>
      <creatorName>Serratosa, Jose</creatorName>
      <givenName>Jose</givenName>
      <familyName>Serratosa</familyName>
    </creator>
    <creator>
      <creatorName>Lemke, Johannes R.</creatorName>
      <givenName>Johannes R.</givenName>
      <familyName>Lemke</familyName>
      <affiliation>Univ Childrens Hosp, Inselspital, Div Human Genet, CH-3010 Bern, Switzerland</affiliation>
    </creator>
    <creator>
      <creatorName>Lemke, Johannes R.</creatorName>
      <givenName>Johannes R.</givenName>
      <familyName>Lemke</familyName>
      <affiliation>Univ Childrens Hosp, Inselspital, Div Human Genet, CH-3010 Bern, Switzerland</affiliation>
    </creator>
  </creators>
  <titles>
    <title>De Novo Loss-Of-Function Mutations In Chd2 Cause A Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features With Dravet Syndrome</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2013</publicationYear>
  <dates>
    <date dateType="Issued">2013-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/12867</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1016/j.ajhg.2013.09.017</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">Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain about 75% of cases with Dravet syndrome; 90% of these mutations arise de novo. We studied a cohort of nine Dravet-syndrome-affected individuals without an SCN1A mutation (these included some atypical cases with onset at up to 2 years of age) by using whole-exome sequencing in proband-parent trios. In two individuals, we identified a de novo loss-of-function mutation in CHD2 (encoding chromodomain helicase DNA binding protein 2). A third CHD2 mutation was identified in an epileptic proband of a second (stage 2) cohort. All three individuals with a CHD2 mutation had intellectual disability and fever-sensitive generalized seizures, as well as prominent myoclonic seizures starting in the second year of life or later. To explore the functional relevance of CHD2 haploinsufficiency in an in vivo model system, we knocked down chd2 in zebrafish by using targeted morpholino antisense oligomers. chd2-knockdown larvae exhibited altered locomotor activity, and the epileptic nature of this seizure-like behavior was confirmed by field-potential recordings that revealed epileptiform discharges similar to seizures in affected persons. Both altered locomotor activity and epileptiform discharges were absent in appropriate control larvae. Our study provides evidence that de novo loss-of-function mutations in CHD2 are a cause of epileptic encephalopathy with generalized seizures.</description>
  </descriptions>
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