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Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

Leu, Costin; de Kovel, Carolien G. F.; Zara, Federico; Striano, Pasquale; Pezzella, Marianna; Robbiano, Angela; Bianchi, Amedeo; Bisulli, Francesca; Coppola, Antonietta; Giallonardo, Anna Teresa; Beccaria, Francesca; Trenite, Dorothee Kasteleijn-Nolst; Lindhout, Dick; Gaus, Verena; Schmitz, Bettina; Janz, Dieter; Weber, Yvonne G.; Becker, Felicitas; Lerche, Holger; Kleefuss-Lie, Ailing A.; Kleefuss-Lie, Ailing A.


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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/85945</identifier>
  <creators>
    <creator>
      <creatorName>Leu, Costin</creatorName>
      <givenName>Costin</givenName>
      <familyName>Leu</familyName>
      <affiliation>Univ Cologne, Cologne Ctr Genom, D-50931 Cologne, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>de Kovel, Carolien G. F.</creatorName>
      <givenName>Carolien G. F.</givenName>
      <familyName>de Kovel</familyName>
      <affiliation>Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>Zara, Federico</creatorName>
      <givenName>Federico</givenName>
      <familyName>Zara</familyName>
      <affiliation>Univ Genoa, G Gaslini Inst, Muscular &amp; Neurodegenerat Dis Unit, Genoa, Italy</affiliation>
    </creator>
    <creator>
      <creatorName>Striano, Pasquale</creatorName>
      <givenName>Pasquale</givenName>
      <familyName>Striano</familyName>
      <affiliation>Univ Genoa, G Gaslini Inst, Muscular &amp; Neurodegenerat Dis Unit, Genoa, Italy</affiliation>
    </creator>
    <creator>
      <creatorName>Pezzella, Marianna</creatorName>
      <givenName>Marianna</givenName>
      <familyName>Pezzella</familyName>
      <affiliation>Univ Genoa, G Gaslini Inst, Muscular &amp; Neurodegenerat Dis Unit, Genoa, Italy</affiliation>
    </creator>
    <creator>
      <creatorName>Robbiano, Angela</creatorName>
      <givenName>Angela</givenName>
      <familyName>Robbiano</familyName>
      <affiliation>Univ Genoa, G Gaslini Inst, Muscular &amp; Neurodegenerat Dis Unit, Genoa, Italy</affiliation>
    </creator>
    <creator>
      <creatorName>Bianchi, Amedeo</creatorName>
      <givenName>Amedeo</givenName>
      <familyName>Bianchi</familyName>
      <affiliation>Hosp San Donato, Neurol Unit, Epilepsy Ctr, Arezzo, Italy</affiliation>
    </creator>
    <creator>
      <creatorName>Bisulli, Francesca</creatorName>
      <givenName>Francesca</givenName>
      <familyName>Bisulli</familyName>
      <affiliation>Univ Bologna, Dept Neurol Sci, Bologna, Italy</affiliation>
    </creator>
    <creator>
      <creatorName>Coppola, Antonietta</creatorName>
      <givenName>Antonietta</givenName>
      <familyName>Coppola</familyName>
      <affiliation>Univ Naples Federico II, Epilepsy Ctr, Naples, Italy</affiliation>
    </creator>
    <creator>
      <creatorName>Giallonardo, Anna Teresa</creatorName>
      <givenName>Anna Teresa</givenName>
      <familyName>Giallonardo</familyName>
      <affiliation>Univ Roma La Sapienza, Dept Neurol Sci, Policlin Umberto I, I-00185 Rome, Italy</affiliation>
    </creator>
    <creator>
      <creatorName>Beccaria, Francesca</creatorName>
      <givenName>Francesca</givenName>
      <familyName>Beccaria</familyName>
      <affiliation>Osped C Poma, Dept Child Neuropsychiat, Mantua, Italy</affiliation>
    </creator>
    <creator>
      <creatorName>Trenite, Dorothee Kasteleijn-Nolst</creatorName>
      <givenName>Dorothee Kasteleijn-Nolst</givenName>
      <familyName>Trenite</familyName>
      <affiliation>Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>Lindhout, Dick</creatorName>
      <givenName>Dick</givenName>
      <familyName>Lindhout</familyName>
      <affiliation>SEIN Epilepsy Inst Netherlands, Hoofddorp, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>Gaus, Verena</creatorName>
      <givenName>Verena</givenName>
      <familyName>Gaus</familyName>
      <affiliation>Humboldt Univ, Dept Neurol, Charite Univ Med, Campus Virchow Clin, D-10099 Berlin, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Schmitz, Bettina</creatorName>
      <givenName>Bettina</givenName>
      <familyName>Schmitz</familyName>
      <affiliation>Humboldt Univ, Dept Neurol, Charite Univ Med, Campus Virchow Clin, D-10099 Berlin, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Janz, Dieter</creatorName>
      <givenName>Dieter</givenName>
      <familyName>Janz</familyName>
      <affiliation>Humboldt Univ, Dept Neurol, Charite Univ Med, Campus Virchow Clin, D-10099 Berlin, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Weber, Yvonne G.</creatorName>
      <givenName>Yvonne G.</givenName>
      <familyName>Weber</familyName>
      <affiliation>Univ Tubingen, Dept Neurol &amp; Epileptol, Hertie Inst Clin Brain Res, Tubingen, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Becker, Felicitas</creatorName>
      <givenName>Felicitas</givenName>
      <familyName>Becker</familyName>
      <affiliation>Univ Tubingen, Dept Neurol &amp; Epileptol, Hertie Inst Clin Brain Res, Tubingen, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Lerche, Holger</creatorName>
      <givenName>Holger</givenName>
      <familyName>Lerche</familyName>
      <affiliation>Univ Tubingen, Dept Neurol &amp; Epileptol, Hertie Inst Clin Brain Res, Tubingen, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Kleefuss-Lie, Ailing A.</creatorName>
      <givenName>Ailing A.</givenName>
      <familyName>Kleefuss-Lie</familyName>
      <affiliation>Univ Clin Bonn, Dept Epileptol, Bonn, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Kleefuss-Lie, Ailing A.</creatorName>
      <givenName>Ailing A.</givenName>
      <familyName>Kleefuss-Lie</familyName>
      <affiliation>Univ Clin Bonn, Dept Epileptol, Bonn, Germany</affiliation>
    </creator>
  </creators>
  <titles>
    <title>Genome-Wide Linkage Meta-Analysis Identifies Susceptibility Loci At 2Q34 And 13Q31.3 For Genetic Generalized Epilepsies</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2012</publicationYear>
  <dates>
    <date dateType="Issued">2012-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/85945</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1111/j.1528-1167.2011.03379.x</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">Purpose: Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% with heritability estimates of 80%. A considerable proportion of families with siblings affected by GGEs presumably display an oligogenic inheritance. The present genome-wide linkage meta-analysis aimed to map: (1) susceptibility loci shared by a broad spectrum of GGEs, and (2) seizure typerelated genetic factors preferentially predisposing to either typical absence or myoclonic seizures, respectively.</description>
  </descriptions>
</resource>
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