1 Ocak 2019 Dergi makalesi Açık Erişim

Schulz, Herbert; Ruppert, Ann-Kathrin; Zara, Federico; Madia, Francesca; Iacomino, Michele; Vari, Maria S.; Balagura, Ganna; Minetti, Carlo; Striano, Pasquale; Blanche, Amedeo; Marini, Carla; Guerrini, Renzo; Weber, Yvonne G.; Becker, Felicitas; Lerche, Holger; Kapser, Claudia; Schankin, Christoph J.; Kunz, Wolfram S.; Moller, Rikke S.; Oliver, Karen L.; Oliver, Karen L.

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    "creators": [
      {
        "affiliation": "Univ Cologne, Cologne Ctr Genom, Cologne, Germany", 
        "name": "Schulz, Herbert"
      }, 
      {
        "affiliation": "Univ Cologne, Cologne Ctr Genom, Cologne, Germany", 
        "name": "Ruppert, Ann-Kathrin"
      }, 
      {
        "affiliation": "G Gaslini Inst Children, Lab Neumgenet & Neurosci, Genoa, Italy", 
        "name": "Zara, Federico"
      }, 
      {
        "affiliation": "G Gaslini Inst Children, Lab Neumgenet & Neurosci, Genoa, Italy", 
        "name": "Madia, Francesca"
      }, 
      {
        "affiliation": "G Gaslini Inst Children, Lab Neumgenet & Neurosci, Genoa, Italy", 
        "name": "Iacomino, Michele"
      }, 
      {
        "affiliation": "Univ Genoa, G Gaslini Inst, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Pediat Neurol & Muscular Dis Unit, Genoa, Italy", 
        "name": "Vari, Maria S."
      }, 
      {
        "affiliation": "Univ Genoa, G Gaslini Inst, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Pediat Neurol & Muscular Dis Unit, Genoa, Italy", 
        "name": "Balagura, Ganna"
      }, 
      {
        "affiliation": "Univ Genoa, G Gaslini Inst, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Pediat Neurol & Muscular Dis Unit, Genoa, Italy", 
        "name": "Minetti, Carlo"
      }, 
      {
        "affiliation": "Univ Genoa, G Gaslini Inst, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Pediat Neurol & Muscular Dis Unit, Genoa, Italy", 
        "name": "Striano, Pasquale"
      }, 
      {
        "affiliation": "Hosp San Donato Arezzo, Div Neurol, Arezzo, Italy", 
        "name": "Blanche, Amedeo"
      }, 
      {
        "affiliation": "Univ Florence, A Meyer Childrens Hosp, Pediat Neurol & Neurogenet Unit & Labs, Florence, Italy", 
        "name": "Marini, Carla"
      }, 
      {
        "affiliation": "Univ Florence, A Meyer Childrens Hosp, Pediat Neurol & Neurogenet Unit & Labs, Florence, Italy", 
        "name": "Guerrini, Renzo"
      }, 
      {
        "affiliation": "Univ Tubingen, Dept Neurol & Epileptol, Hertie Inst Clin Brain Res, Tubingen, Germany", 
        "name": "Weber, Yvonne G."
      }, 
      {
        "name": "Becker, Felicitas"
      }, 
      {
        "affiliation": "Univ Tubingen, Dept Neurol & Epileptol, Hertie Inst Clin Brain Res, Tubingen, Germany", 
        "name": "Lerche, Holger"
      }, 
      {
        "affiliation": "Univ Munich, Grosshadern Hosp, Dept Neurol, Munich, Germany", 
        "name": "Kapser, Claudia"
      }, 
      {
        "name": "Schankin, Christoph J."
      }, 
      {
        "affiliation": "Univ Bonn, Med Ctr, Inst Expt Epileptol & Cognit Res, Dept Epileptol, Bonn, Germany", 
        "name": "Kunz, Wolfram S."
      }, 
      {
        "name": "Moller, Rikke S."
      }, 
      {
        "affiliation": "Univ Melbourne, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia", 
        "name": "Oliver, Karen L."
      }, 
      {
        "affiliation": "Univ Melbourne, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia", 
        "name": "Oliver, Karen L."
      }
    ], 
    "description": "Juvenile myoclonic epilepsy (JME) is a common syndrome of genetic generalized epilepsies (GGEs). Linkage and association studies suggest that the gene encoding the bromodomain-containing protein 2 (BRD2) may increase risk of JME. The present methylation and association study followed up a recent report highlighting that the BRD2 promoter CpG island (CpG76) is differentially hypermethylated in lymphoblastoid cells from Caucasian patients with JME compared to patients with other GGE subtypes and unaffected relatives. In contrast, we found a uniform low average percentage of methylation (<4.5%) for 13 CpG76-CpGs in whole blood cells from 782 unrelated European Caucasians, including 116 JME patients, 196 patients with genetic absence epilepsies, and 470 control subjects. We also failed to confirm an allelic association of the BRD2 promoter single nucleotide polymorphism (SNP) rs3918149 with JME (Armitage trend test, P=0.98), and we did not detect a substantial impact of SNP rs3918149 on CpG76 methylation in either 116 JME patients (methylation quantitative trait loci [meQTL], P=0.29) or 470 German control subjects (meQTL, P=0.55). Our results do not support the previous observation that a high DNA methylation level of the BRD2 promoter CpG76 island is a prevalent epigenetic motif associated with JME in Caucasians.", 
    "doi": "10.1111/epi.14657", 
    "has_grant": false, 
    "journal": {
      "issue": "5", 
      "pages": "E31-E36", 
      "title": "EPILEPSIA", 
      "volume": "60"
    }, 
    "license": {
      "id": "cc-by"
    }, 
    "publication_date": "2019-01-01", 
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    "resource_type": {
      "subtype": "article", 
      "title": "Dergi makalesi", 
      "type": "publication"
    }, 
    "title": "No evidence for a BRD2 promoter hypermethylation inblood leukocytes of Europeans with juvenile myoclonic epilepsy"
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