Exploration of the genetic architecture of idiopathic generalized epilepsies
Identifieur interne : 009F49 ( Main/Exploration ); précédent : 009F48; suivant : 009F50Exploration of the genetic architecture of idiopathic generalized epilepsies
Auteurs : Anne Hempelmann [Allemagne] ; Kirsten P. Taylor [Allemagne] ; Armin Heils [Allemagne] ; Susanne Lorenz [Allemagne] ; Jean-Francois Prud'Homme [France] ; Rima Nabbout [France] ; Olivier Dulac [France] ; Gabrielle Rudolf [France] ; Federico Zara [Italie] ; Amedeo Bianchi [Italie] ; Robert Robinson [Royaume-Uni] ; R. Mark Gardiner [Royaume-Uni] ; Athanasios Covanis [Grèce] ; Dick Lindhout [Pays-Bas] ; Ulrich Stephani [Allemagne] ; Christian E. Elger [Allemagne] ; Yvonne G. Weber [Allemagne] ; Holger Lerche [Allemagne] ; Peter Niirnberg [Allemagne] ; Katherine L. Kron [Australie] ; Ingrid E. Scheffer [Australie] ; John C. Mulley [Australie] ; Samuel F. Berkovic [Australie] ; Thomas Sander [Allemagne]Source :
- Epilepsia : (Copenhagen) [ 0013-9580 ] ; 2006.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Purpose: Idiopathic generalized epilepsy (IGE) accounts for ∼20% of all epilepsies and affects about 0.2% of the general population. The etiology of IGE is genetically determined, but the complex pattern of inheritance suggests an involvement of a large number of susceptibility genes. The objective of the present study was to explore the genetic architecture of common IGE syndromes and to dissect out susceptibility loci predisposing to absence or myoclonic seizures. Methods: Genome-wide linkage scans were performed in 126 IGE-multiplex families of European origin ascertained through a proband with idiopathic absence epilepsy or juvenile myoclonic epilepsy. Each family had at least two siblings affected by IGE. To search for seizure type-related susceptibility loci, linkage analyses were carried out in family subgroups segregating either typical absence seizures or myoclonic and generalized tonic-clonic seizures on awakening. Results: Nonparametric linkage scans revealed evidence for complex and heterogeneous genetic architectures involving linkage signals at 5q34, 6p12, 11q13, 13q22-q31, and 19q13. The signal patterns differed in their composition, depending on the predominant seizure type in the families. Conclusions: Our results are consistent with heterogeneous configurations of susceptibility loci associated with different IGE subtypes. Genetic determinants on 11q13 and 13q22-q31 seem to predispose preferentially to absence seizures, whereas loci on 5q34, 6pl2, and 19q13 confer susceptibility to myoclonic and generalized tonic-clonic seizures on awakening.
Affiliations:
- Allemagne, Australie, France, Grèce, Italie, Pays-Bas, Royaume-Uni
- Alsace (région administrative), Angleterre, Attique (région), Bade-Wurtemberg, Berlin, Canton de Genève, District de Cologne, District de Tübingen, Grand Est, Grand Londres, Rhénanie-du-Nord-Westphalie, Schleswig-Holstein, Utrecht (province), Île-de-France
- Athènes, Berlin, Bonn, Genève, Kiel, Londres, Paris, Strasbourg, Ulm, Utrecht, Évry (Essonne)
- Université d'Ulm, Université de Genève
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Neuromuscular and Neurodegenerative Disease, Istituto Gaslini, University of Geneva</s1><s2>Genova</s2><s3>ITA</s3><sZ>9 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Genève</settlement><region nuts="3" type="region">Canton de Genève</region></placeName><orgName type="university">Université de Genève</orgName></affiliation></author><author><name sortKey="Bianchi, Amedeo" sort="Bianchi, Amedeo" uniqKey="Bianchi A" first="Amedeo" last="Bianchi">Amedeo Bianchi</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Epilepsy Centre, Department of Neurology, San Donato Hospital</s1><s2>Arezzo</s2><s3>ITA</s3><sZ>10 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Arezzo</wicri:noRegion></affiliation></author><author><name sortKey="Robinson, Robert" sort="Robinson, Robert" uniqKey="Robinson R" first="Robert" last="Robinson">Robert Robinson</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Department of Pediatrics and Child Health, The Rayne Institute, Royal Free and University College Medical School</s1><s2>London</s2><s3>GBR</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Gardiner, R Mark" sort="Gardiner, R Mark" uniqKey="Gardiner R" first="R. Mark" last="Gardiner">R. Mark Gardiner</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Department of Pediatrics and Child Health, The Rayne Institute, Royal Free and University College Medical School</s1><s2>London</s2><s3>GBR</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Covanis, Athanasios" sort="Covanis, Athanasios" uniqKey="Covanis A" first="Athanasios" last="Covanis">Athanasios Covanis</name><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Department of Neurology, The Children's Hospital "Agia Spohia,"</s1><s2>Athens</s2><s3>GRC</s3><sZ>13 aut.</sZ></inist:fA14><country>Grèce</country><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author><author><name sortKey="Lindhout, Dick" sort="Lindhout, Dick" uniqKey="Lindhout D" first="Dick" last="Lindhout">Dick Lindhout</name><affiliation wicri:level="3"><inist:fA14 i1="11"><s1>Complex Genetics Section, Department of Medical Genetics, University Medical Center Utrecht</s1><s2>Utrecht</s2><s3>NLD</s3><sZ>14 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Stephani, Ulrich" sort="Stephani, Ulrich" uniqKey="Stephani U" first="Ulrich" last="Stephani">Ulrich Stephani</name><affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Clinic for Neuropaediatrics, University Clinics Schleswig Holstein</s1><s2>Kiel</s2><s3>DEU</s3><sZ>15 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Elger, Christian E" sort="Elger, Christian E" uniqKey="Elger C" first="Christian E." last="Elger">Christian E. Elger</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Clinic of Epileptology and Institute of Human Genetics, Rheinische Friedrich-Wilhelms-University</s1><s2>Bonn</s2><s3>DEU</s3><sZ>3 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation></author><author><name sortKey="Weber, Yvonne G" sort="Weber, Yvonne G" uniqKey="Weber Y" first="Yvonne G." last="Weber">Yvonne G. Weber</name><affiliation wicri:level="4"><inist:fA14 i1="13"><s1>Departments of Neurology and Applied Physiology, University of Ulm</s1><s2>Ulm</s2><s3>DEU</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Ulm</settlement><settlement type="city">Ulm</settlement></placeName><orgName type="university">Université d'Ulm</orgName></affiliation></author><author><name sortKey="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name><affiliation wicri:level="4"><inist:fA14 i1="13"><s1>Departments of Neurology and Applied Physiology, University of Ulm</s1><s2>Ulm</s2><s3>DEU</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Ulm</settlement><settlement type="city">Ulm</settlement></placeName><orgName type="university">Université d'Ulm</orgName></affiliation></author><author><name sortKey="Niirnberg, Peter" sort="Niirnberg, Peter" uniqKey="Niirnberg P" first="Peter" last="Niirnberg">Peter Niirnberg</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Cologne Center for Genomics and Institute for Genetics, University of Cologne</s1><s2>Cologne</s2><s3>DEU</s3><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>University of Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Kron, Katherine L" sort="Kron, Katherine L" uniqKey="Kron K" first="Katherine L." last="Kron">Katherine L. Kron</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Epilepsy Research Centre and Department of Medicine (Neurology), University of Melbourne and Austin Health and Repatriation Medical Centre</s1><s2>Heidelberg, Victoria</s2><s3>AUS</s3><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Heidelberg, Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Epilepsy Research Centre and Department of Medicine (Neurology), University of Melbourne and Austin Health and Repatriation Medical Centre</s1><s2>Heidelberg, Victoria</s2><s3>AUS</s3><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Heidelberg, Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Mulley, John C" sort="Mulley, John C" uniqKey="Mulley J" first="John C." last="Mulley">John C. Mulley</name><affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Department of Genetic Medicine, Women's and Children's Hospital and School of Molecular and Biomedical Sciences, University of Adelaide</s1><s2>South Australia</s2><s3>AUS</s3><sZ>22 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>South Australia</wicri:noRegion></affiliation></author><author><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F." last="Berkovic">Samuel F. Berkovic</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Epilepsy Research Centre and Department of Medicine (Neurology), University of Melbourne and Austin Health and Repatriation Medical Centre</s1><s2>Heidelberg, Victoria</s2><s3>AUS</s3><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Heidelberg, Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Sander, Thomas" sort="Sander, Thomas" uniqKey="Sander T" first="Thomas" last="Sander">Thomas Sander</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Gene Mapping Center, Max-Delbriick Center, Charité University Medicine</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurology, Charité University Medicine</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">06-0513383</idno><date when="2006">2006</date><idno type="stanalyst">PASCAL 06-0513383 INIST</idno><idno type="RBID">Pascal:06-0513383</idno><idno type="wicri:Area/PascalFrancis/Corpus">004064</idno><idno type="wicri:Area/PascalFrancis/Curation">002031</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">004047</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">004047</idno><idno type="wicri:doubleKey">0013-9580:2006:Hempelmann A:exploration:of:the</idno><idno type="wicri:Area/Main/Merge">00AA69</idno><idno type="wicri:Area/Main/Curation">009F49</idno><idno type="wicri:Area/Main/Exploration">009F49</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Exploration of the genetic architecture of idiopathic generalized epilepsies</title><author><name sortKey="Hempelmann, Anne" sort="Hempelmann, Anne" uniqKey="Hempelmann A" first="Anne" last="Hempelmann">Anne Hempelmann</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Gene Mapping Center, Max-Delbriick Center, Charité University Medicine</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurology, Charité University Medicine</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Taylor, Kirsten P" sort="Taylor, Kirsten P" uniqKey="Taylor K" first="Kirsten P." last="Taylor">Kirsten P. Taylor</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Gene Mapping Center, Max-Delbriick Center, Charité University Medicine</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurology, Charité University Medicine</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Heils, Armin" sort="Heils, Armin" uniqKey="Heils A" first="Armin" last="Heils">Armin Heils</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Clinic of Epileptology and Institute of Human Genetics, Rheinische Friedrich-Wilhelms-University</s1><s2>Bonn</s2><s3>DEU</s3><sZ>3 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation></author><author><name sortKey="Lorenz, Susanne" sort="Lorenz, Susanne" uniqKey="Lorenz S" first="Susanne" last="Lorenz">Susanne Lorenz</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Gene Mapping Center, Max-Delbriick Center, Charité University Medicine</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurology, Charité University Medicine</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Prud Homme, Jean Francois" sort="Prud Homme, Jean Francois" uniqKey="Prud Homme J" first="Jean-Francois" last="Prud'Homme">Jean-Francois Prud'Homme</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Généthon</s1><s2>Evry</s2><s3>FRA</s3><sZ>5 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Évry (Essonne)</settlement></placeName></affiliation></author><author><name sortKey="Nabbout, Rima" sort="Nabbout, Rima" uniqKey="Nabbout R" first="Rima" last="Nabbout">Rima Nabbout</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Département de Neurologic Pédiatrique et de Maladies Métaboliques, Hopital Necker-Enfants Malades, APHP</s1><s2>Paris</s2><s3>FRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Dulac, Olivier" sort="Dulac, Olivier" uniqKey="Dulac O" first="Olivier" last="Dulac">Olivier Dulac</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Département de Neurologic Pédiatrique et de Maladies Métaboliques, Hopital Necker-Enfants Malades, APHP</s1><s2>Paris</s2><s3>FRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Rudolf, Gabrielle" sort="Rudolf, Gabrielle" uniqKey="Rudolf G" first="Gabrielle" last="Rudolf">Gabrielle Rudolf</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Clinique Neurologique, Hôpitaux Universitaires de Strasbourg</s1><s2>Strasbourg</s2><s3>FRA</s3><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Zara, Federico" sort="Zara, Federico" uniqKey="Zara F" first="Federico" last="Zara">Federico Zara</name><affiliation wicri:level="4"><inist:fA14 i1="07"><s1>Laboratory ofNeurogenetics, U.O. Neuromuscular and Neurodegenerative Disease, Istituto Gaslini, University of Geneva</s1><s2>Genova</s2><s3>ITA</s3><sZ>9 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Genève</settlement><region nuts="3" type="region">Canton de Genève</region></placeName><orgName type="university">Université de Genève</orgName></affiliation></author><author><name sortKey="Bianchi, Amedeo" sort="Bianchi, Amedeo" uniqKey="Bianchi A" first="Amedeo" last="Bianchi">Amedeo Bianchi</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Epilepsy Centre, Department of Neurology, San Donato Hospital</s1><s2>Arezzo</s2><s3>ITA</s3><sZ>10 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Arezzo</wicri:noRegion></affiliation></author><author><name sortKey="Robinson, Robert" sort="Robinson, Robert" uniqKey="Robinson R" first="Robert" last="Robinson">Robert Robinson</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Department of Pediatrics and Child Health, The Rayne Institute, Royal Free and University College Medical School</s1><s2>London</s2><s3>GBR</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Gardiner, R Mark" sort="Gardiner, R Mark" uniqKey="Gardiner R" first="R. Mark" last="Gardiner">R. Mark Gardiner</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Department of Pediatrics and Child Health, The Rayne Institute, Royal Free and University College Medical School</s1><s2>London</s2><s3>GBR</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Covanis, Athanasios" sort="Covanis, Athanasios" uniqKey="Covanis A" first="Athanasios" last="Covanis">Athanasios Covanis</name><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Department of Neurology, The Children's Hospital "Agia Spohia,"</s1><s2>Athens</s2><s3>GRC</s3><sZ>13 aut.</sZ></inist:fA14><country>Grèce</country><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author><author><name sortKey="Lindhout, Dick" sort="Lindhout, Dick" uniqKey="Lindhout D" first="Dick" last="Lindhout">Dick Lindhout</name><affiliation wicri:level="3"><inist:fA14 i1="11"><s1>Complex Genetics Section, Department of Medical Genetics, University Medical Center Utrecht</s1><s2>Utrecht</s2><s3>NLD</s3><sZ>14 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Stephani, Ulrich" sort="Stephani, Ulrich" uniqKey="Stephani U" first="Ulrich" last="Stephani">Ulrich Stephani</name><affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Clinic for Neuropaediatrics, University Clinics Schleswig Holstein</s1><s2>Kiel</s2><s3>DEU</s3><sZ>15 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Elger, Christian E" sort="Elger, Christian E" uniqKey="Elger C" first="Christian E." last="Elger">Christian E. Elger</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Clinic of Epileptology and Institute of Human Genetics, Rheinische Friedrich-Wilhelms-University</s1><s2>Bonn</s2><s3>DEU</s3><sZ>3 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation></author><author><name sortKey="Weber, Yvonne G" sort="Weber, Yvonne G" uniqKey="Weber Y" first="Yvonne G." last="Weber">Yvonne G. Weber</name><affiliation wicri:level="4"><inist:fA14 i1="13"><s1>Departments of Neurology and Applied Physiology, University of Ulm</s1><s2>Ulm</s2><s3>DEU</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Ulm</settlement><settlement type="city">Ulm</settlement></placeName><orgName type="university">Université d'Ulm</orgName></affiliation></author><author><name sortKey="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name><affiliation wicri:level="4"><inist:fA14 i1="13"><s1>Departments of Neurology and Applied Physiology, University of Ulm</s1><s2>Ulm</s2><s3>DEU</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Ulm</settlement><settlement type="city">Ulm</settlement></placeName><orgName type="university">Université d'Ulm</orgName></affiliation></author><author><name sortKey="Niirnberg, Peter" sort="Niirnberg, Peter" uniqKey="Niirnberg P" first="Peter" last="Niirnberg">Peter Niirnberg</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Cologne Center for Genomics and Institute for Genetics, University of Cologne</s1><s2>Cologne</s2><s3>DEU</s3><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>University of Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Kron, Katherine L" sort="Kron, Katherine L" uniqKey="Kron K" first="Katherine L." last="Kron">Katherine L. Kron</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Epilepsy Research Centre and Department of Medicine (Neurology), University of Melbourne and Austin Health and Repatriation Medical Centre</s1><s2>Heidelberg, Victoria</s2><s3>AUS</s3><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Heidelberg, Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Epilepsy Research Centre and Department of Medicine (Neurology), University of Melbourne and Austin Health and Repatriation Medical Centre</s1><s2>Heidelberg, Victoria</s2><s3>AUS</s3><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Heidelberg, Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Mulley, John C" sort="Mulley, John C" uniqKey="Mulley J" first="John C." last="Mulley">John C. Mulley</name><affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Department of Genetic Medicine, Women's and Children's Hospital and School of Molecular and Biomedical Sciences, University of Adelaide</s1><s2>South Australia</s2><s3>AUS</s3><sZ>22 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>South Australia</wicri:noRegion></affiliation></author><author><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F." last="Berkovic">Samuel F. Berkovic</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Epilepsy Research Centre and Department of Medicine (Neurology), University of Melbourne and Austin Health and Repatriation Medical Centre</s1><s2>Heidelberg, Victoria</s2><s3>AUS</s3><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Heidelberg, Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Sander, Thomas" sort="Sander, Thomas" uniqKey="Sander T" first="Thomas" last="Sander">Thomas Sander</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Gene Mapping Center, Max-Delbriick Center, Charité University Medicine</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurology, Charité University Medicine</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author></analytic><series><title level="j" type="main">Epilepsia : (Copenhagen)</title><title level="j" type="abbreviated">Epilepsia : (Cph.)</title><idno type="ISSN">0013-9580</idno><imprint><date when="2006">2006</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Epilepsia : (Copenhagen)</title><title level="j" type="abbreviated">Epilepsia : (Cph.)</title><idno type="ISSN">0013-9580</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Epilepsy</term><term>Exploration</term><term>Genetic linkage</term><term>Idiopathic</term><term>Nervous system diseases</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Epilepsie</term><term>Exploration</term><term>Idiopathique</term><term>Liaison génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Purpose: Idiopathic generalized epilepsy (IGE) accounts for ∼20% of all epilepsies and affects about 0.2% of the general population. The etiology of IGE is genetically determined, but the complex pattern of inheritance suggests an involvement of a large number of susceptibility genes. The objective of the present study was to explore the genetic architecture of common IGE syndromes and to dissect out susceptibility loci predisposing to absence or myoclonic seizures. Methods: Genome-wide linkage scans were performed in 126 IGE-multiplex families of European origin ascertained through a proband with idiopathic absence epilepsy or juvenile myoclonic epilepsy. Each family had at least two siblings affected by IGE. To search for seizure type-related susceptibility loci, linkage analyses were carried out in family subgroups segregating either typical absence seizures or myoclonic and generalized tonic-clonic seizures on awakening. Results: Nonparametric linkage scans revealed evidence for complex and heterogeneous genetic architectures involving linkage signals at 5q34, 6p12, 11q13, 13q22-q31, and 19q13. The signal patterns differed in their composition, depending on the predominant seizure type in the families. Conclusions: Our results are consistent with heterogeneous configurations of susceptibility loci associated with different IGE subtypes. Genetic determinants on 11q13 and 13q22-q31 seem to predispose preferentially to absence seizures, whereas loci on 5q34, 6pl2, and 19q13 confer susceptibility to myoclonic and generalized tonic-clonic seizures on awakening.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>France</li><li>Grèce</li><li>Italie</li><li>Pays-Bas</li><li>Royaume-Uni</li></country><region><li>Alsace (région administrative)</li><li>Angleterre</li><li>Attique (région)</li><li>Bade-Wurtemberg</li><li>Berlin</li><li>Canton de Genève</li><li>District de Cologne</li><li>District de Tübingen</li><li>Grand Est</li><li>Grand Londres</li><li>Rhénanie-du-Nord-Westphalie</li><li>Schleswig-Holstein</li><li>Utrecht (province)</li><li>Île-de-France</li></region><settlement><li>Athènes</li><li>Berlin</li><li>Bonn</li><li>Genève</li><li>Kiel</li><li>Londres</li><li>Paris</li><li>Strasbourg</li><li>Ulm</li><li>Utrecht</li><li>Évry (Essonne)</li></settlement><orgName><li>Université d'Ulm</li><li>Université de Genève</li></orgName></list><tree><country name="Allemagne"><region name="Berlin"><name sortKey="Hempelmann, Anne" sort="Hempelmann, Anne" uniqKey="Hempelmann A" first="Anne" last="Hempelmann">Anne Hempelmann</name></region><name sortKey="Elger, Christian E" sort="Elger, Christian E" uniqKey="Elger C" first="Christian E." last="Elger">Christian E. Elger</name><name sortKey="Heils, Armin" sort="Heils, Armin" uniqKey="Heils A" first="Armin" last="Heils">Armin Heils</name><name sortKey="Hempelmann, Anne" sort="Hempelmann, Anne" uniqKey="Hempelmann A" first="Anne" last="Hempelmann">Anne Hempelmann</name><name sortKey="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name><name sortKey="Lorenz, Susanne" sort="Lorenz, Susanne" uniqKey="Lorenz S" first="Susanne" last="Lorenz">Susanne Lorenz</name><name sortKey="Lorenz, Susanne" sort="Lorenz, Susanne" uniqKey="Lorenz S" first="Susanne" last="Lorenz">Susanne Lorenz</name><name sortKey="Niirnberg, Peter" sort="Niirnberg, Peter" uniqKey="Niirnberg P" first="Peter" last="Niirnberg">Peter Niirnberg</name><name sortKey="Sander, Thomas" sort="Sander, Thomas" uniqKey="Sander T" first="Thomas" last="Sander">Thomas Sander</name><name sortKey="Sander, Thomas" sort="Sander, Thomas" uniqKey="Sander T" first="Thomas" last="Sander">Thomas Sander</name><name sortKey="Stephani, Ulrich" sort="Stephani, Ulrich" uniqKey="Stephani U" first="Ulrich" last="Stephani">Ulrich Stephani</name><name sortKey="Taylor, Kirsten P" sort="Taylor, Kirsten P" uniqKey="Taylor K" first="Kirsten P." last="Taylor">Kirsten P. Taylor</name><name sortKey="Taylor, Kirsten P" sort="Taylor, Kirsten P" uniqKey="Taylor K" first="Kirsten P." last="Taylor">Kirsten P. Taylor</name><name sortKey="Weber, Yvonne G" sort="Weber, Yvonne G" uniqKey="Weber Y" first="Yvonne G." last="Weber">Yvonne G. Weber</name></country><country name="France"><region name="Île-de-France"><name sortKey="Prud Homme, Jean Francois" sort="Prud Homme, Jean Francois" uniqKey="Prud Homme J" first="Jean-Francois" last="Prud'Homme">Jean-Francois Prud'Homme</name></region><name sortKey="Dulac, Olivier" sort="Dulac, Olivier" uniqKey="Dulac O" first="Olivier" last="Dulac">Olivier Dulac</name><name sortKey="Nabbout, Rima" sort="Nabbout, Rima" uniqKey="Nabbout R" first="Rima" last="Nabbout">Rima Nabbout</name><name sortKey="Rudolf, Gabrielle" sort="Rudolf, Gabrielle" uniqKey="Rudolf G" first="Gabrielle" last="Rudolf">Gabrielle Rudolf</name></country><country name="Italie"><region name="Canton de Genève"><name sortKey="Zara, Federico" sort="Zara, Federico" uniqKey="Zara F" first="Federico" last="Zara">Federico Zara</name></region><name sortKey="Bianchi, Amedeo" sort="Bianchi, Amedeo" uniqKey="Bianchi A" first="Amedeo" last="Bianchi">Amedeo Bianchi</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Robinson, Robert" sort="Robinson, Robert" uniqKey="Robinson R" first="Robert" last="Robinson">Robert Robinson</name></region><name sortKey="Gardiner, R Mark" sort="Gardiner, R Mark" uniqKey="Gardiner R" first="R. Mark" last="Gardiner">R. Mark Gardiner</name></country><country name="Grèce"><region name="Attique (région)"><name sortKey="Covanis, Athanasios" sort="Covanis, Athanasios" uniqKey="Covanis A" first="Athanasios" last="Covanis">Athanasios Covanis</name></region></country><country name="Pays-Bas"><region name="Utrecht (province)"><name sortKey="Lindhout, Dick" sort="Lindhout, Dick" uniqKey="Lindhout D" first="Dick" last="Lindhout">Dick Lindhout</name></region></country><country name="Australie"><noRegion><name sortKey="Kron, Katherine L" sort="Kron, Katherine L" uniqKey="Kron K" first="Katherine L." last="Kron">Katherine L. Kron</name></noRegion><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F." last="Berkovic">Samuel F. Berkovic</name><name sortKey="Mulley, John C" sort="Mulley, John C" uniqKey="Mulley J" first="John C." last="Mulley">John C. Mulley</name><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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