Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
Identifieur interne : 001731 ( PubMed/Curation ); précédent : 001730; suivant : 001732Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
Auteurs : Lyndal Henden [Australie] ; Saskia Freytag [Australie] ; Zaid Afawi [Israël] ; Sara Baldassari [Italie] ; Samuel F. Berkovic [Australie] ; Francesca Bisulli [Italie] ; Laura Canafoglia [Italie] ; Giorgio Casari [Italie] ; Douglas Ewan Crompton [Australie] ; Christel Depienne [France] ; Jozef Gecz [Australie] ; Renzo Guerrini [Italie] ; Ingo Helbig [Allemagne] ; Edouard Hirsch [France] ; Boris Keren [France] ; Karl Martin Klein [Allemagne] ; Pierre Labauge [France] ; Eric Leguern [France] ; Laura Licchetta [Italie] ; Davide Mei [Italie] ; Caroline Nava [France] ; Tommaso Pippucci [Italie] ; Gabrielle Rudolf [France] ; Ingrid Eileen Scheffer [Australie] ; Pasquale Striano [Italie] ; Paolo Tinuper [Italie] ; Federico Zara [Italie] ; Mark Corbett [Australie] ; Melanie Bahlo [Australie]Source :
- Human genetics [ 1432-1203 ] ; 2016.
Descripteurs français
- KwdFr :
- Allèles, Cartographie chromosomique, Chromosomes humains de la paire 2, Crises épileptiques (génétique), Crises épileptiques (physiopathologie), Effet fondateur, Femelle, Génotype, Humains, Hétérogénéité génétique, Liaison génétique, Muscles lisses (physiopathologie), Mâle, Pedigree, Polymorphisme de nucléotide simple, Épilepsies myocloniques (génétique), Épilepsies myocloniques (physiopathologie).
- MESH :
- génétique : Crises épileptiques, Épilepsies myocloniques.
- physiopathologie : Crises épileptiques, Muscles lisses, Épilepsies myocloniques.
- Allèles, Cartographie chromosomique, Chromosomes humains de la paire 2, Effet fondateur, Femelle, Génotype, Humains, Hétérogénéité génétique, Liaison génétique, Mâle, Pedigree, Polymorphisme de nucléotide simple.
English descriptors
- KwdEn :
- Alleles, Chromosome Mapping, Chromosomes, Human, Pair 2, Epilepsies, Myoclonic (genetics), Epilepsies, Myoclonic (physiopathology), Female, Founder Effect, Genetic Heterogeneity, Genetic Linkage, Genotype, Humans, Male, Muscle, Smooth (physiopathology), Pedigree, Polymorphism, Single Nucleotide, Seizures (genetics), Seizures (physiopathology).
- MESH :
- genetics : Epilepsies, Myoclonic, Seizures.
- physiopathology : Epilepsies, Myoclonic, Muscle, Smooth, Seizures.
- Alleles, Chromosome Mapping, Chromosomes, Human, Pair 2, Female, Founder Effect, Genetic Heterogeneity, Genetic Linkage, Genotype, Humans, Male, Pedigree, Polymorphism, Single Nucleotide.
Abstract
Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder characterized by adult onset, involuntary muscle jerks, cortical myoclonus and occasional seizures. FAME is genetically heterogeneous with more than 70 families reported worldwide and five potential disease loci. The efforts to identify potential causal variants have been unsuccessful in all but three families. To date, linkage analysis has been the main approach to find and narrow FAME critical regions. We propose an alternative method, pedigree free identity-by-descent (IBD) mapping, that infers regions of the genome between individuals that have been inherited from a common ancestor. IBD mapping provides an alternative to linkage analysis in the presence of allelic and locus heterogeneity by detecting clusters of individuals who share a common allele. Succeeding IBD mapping, gene prioritization based on gene co-expression analysis can be used to identify the most promising candidate genes. We performed an IBD analysis using high-density single nucleotide polymorphism (SNP) array data followed by gene prioritization on a FAME cohort of ten European families and one Australian/New Zealander family; eight of which had known disease loci. By identifying IBD regions common to multiple families, we were able to narrow the FAME2 locus to a 9.78 megabase interval within 2p11.2-q11.2. We provide additional evidence of a founder effect in four Italian families and allelic heterogeneity with at least four distinct founders responsible for FAME at the FAME2 locus. In addition, we suggest candidate disease genes using gene prioritization based on gene co-expression analysis.
DOI: 10.1007/s00439-016-1700-8
PubMed: 27368338
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Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005</wicri:regionArea></affiliation></author><author><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence</wicri:regionArea></affiliation></author><author><name sortKey="Helbig, Ingo" sort="Helbig, Ingo" uniqKey="Helbig I" first="Ingo" last="Helbig">Ingo Helbig</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center, Kiel, Schleswig-Holstein, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center, Kiel, Schleswig-Holstein</wicri:regionArea></affiliation></author><author><name sortKey="Hirsch, Edouard" sort="Hirsch, Edouard" uniqKey="Hirsch E" first="Edouard" last="Hirsch">Edouard Hirsch</name><affiliation wicri:level="1"><nlm:affiliation>Medical and Surgical Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Medical and Surgical Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, Strasbourg</wicri:regionArea></affiliation></author><author><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Klein, Karl Martin" sort="Klein, Karl Martin" uniqKey="Klein K" first="Karl Martin" last="Klein">Karl Martin Klein</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital, Goethe-University Frankfurt, Frankfurt, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital, Goethe-University Frankfurt, Frankfurt</wicri:regionArea></affiliation></author><author><name sortKey="Labauge, Pierre" sort="Labauge, Pierre" uniqKey="Labauge P" first="Pierre" last="Labauge">Pierre Labauge</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Montpellier University, Gui de Chauliac, 34295, Montpellier, Cedex 5, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, Montpellier University, Gui de Chauliac, 34295, Montpellier, Cedex 5</wicri:regionArea></affiliation></author><author><name sortKey="Leguern, Eric" sort="Leguern, Eric" uniqKey="Leguern E" first="Eric" last="Leguern">Eric Leguern</name><affiliation wicri:level="1"><nlm:affiliation>Sorbonne Universités, UPMC Univ Paris 06,UMR S 1127, ICM, 75013, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Sorbonne Universités, UPMC Univ Paris 06,UMR S 1127, ICM, 75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Mei, Davide" sort="Mei, Davide" uniqKey="Mei D" first="Davide" last="Mei">Davide Mei</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence</wicri:regionArea></affiliation></author><author><name sortKey="Nava, Caroline" sort="Nava, Caroline" uniqKey="Nava C" first="Caroline" last="Nava">Caroline Nava</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Pippucci, Tommaso" sort="Pippucci, Tommaso" uniqKey="Pippucci T" first="Tommaso" last="Pippucci">Tommaso Pippucci</name><affiliation wicri:level="1"><nlm:affiliation>Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi-Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi-Department of Medical and Surgical Sciences, University of Bologna, Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Rudolf, Gabrielle" sort="Rudolf, Gabrielle" uniqKey="Rudolf G" first="Gabrielle" last="Rudolf">Gabrielle Rudolf</name><affiliation wicri:level="1"><nlm:affiliation>Département de Médicine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Médicine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch</wicri:regionArea></affiliation></author><author><name sortKey="Scheffer, Ingrid Eileen" sort="Scheffer, Ingrid Eileen" uniqKey="Scheffer I" first="Ingrid Eileen" last="Scheffer">Ingrid Eileen Scheffer</name><affiliation wicri:level="1"><nlm:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne Austin Health, Melbourne, VIC, 3084, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne Austin Health, Melbourne, VIC, 3084</wicri:regionArea></affiliation></author><author><name sortKey="Striano, Pasquale" sort="Striano, Pasquale" uniqKey="Striano P" first="Pasquale" last="Striano">Pasquale Striano</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Gaslini Institute, Genoa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Gaslini Institute, Genoa</wicri:regionArea></affiliation></author><author><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Zara, Federico" sort="Zara, Federico" uniqKey="Zara F" first="Federico" last="Zara">Federico Zara</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Neurogenetics, Department of Neurosciences, Gaslini Institute, Genoa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Neurogenetics, Department of Neurosciences, Gaslini Institute, Genoa</wicri:regionArea></affiliation></author><author><name sortKey="Corbett, Mark" sort="Corbett, Mark" uniqKey="Corbett M" first="Mark" last="Corbett">Mark Corbett</name><affiliation wicri:level="1"><nlm:affiliation>Robinson Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Robinson Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005</wicri:regionArea></affiliation></author><author><name sortKey="Bahlo, Melanie" sort="Bahlo, Melanie" uniqKey="Bahlo M" first="Melanie" last="Bahlo">Melanie Bahlo</name><affiliation wicri:level="1"><nlm:affiliation>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia. bahlo@wehi.edu.au.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27368338</idno><idno type="pmid">27368338</idno><idno type="doi">10.1007/s00439-016-1700-8</idno><idno type="wicri:Area/PubMed/Corpus">001754</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001754</idno><idno type="wicri:Area/PubMed/Curation">001731</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001731</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.</title><author><name sortKey="Henden, Lyndal" sort="Henden, Lyndal" uniqKey="Henden L" first="Lyndal" last="Henden">Lyndal Henden</name><affiliation wicri:level="1"><nlm:affiliation>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052</wicri:regionArea></affiliation></author><author><name sortKey="Freytag, Saskia" sort="Freytag, Saskia" uniqKey="Freytag S" first="Saskia" last="Freytag">Saskia Freytag</name><affiliation wicri:level="1"><nlm:affiliation>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052</wicri:regionArea></affiliation></author><author><name sortKey="Afawi, Zaid" sort="Afawi, Zaid" uniqKey="Afawi Z" first="Zaid" last="Afawi">Zaid Afawi</name><affiliation wicri:level="1"><nlm:affiliation>Tel Aviv University Medical School, 69978, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Tel Aviv University Medical School, 69978, Tel Aviv</wicri:regionArea></affiliation></author><author><name sortKey="Baldassari, Sara" sort="Baldassari, Sara" uniqKey="Baldassari S" first="Sara" last="Baldassari">Sara Baldassari</name><affiliation wicri:level="1"><nlm:affiliation>Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi-Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi-Department of Medical and Surgical Sciences, University of Bologna, Bologna</wicri:regionArea></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"><nlm:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne Austin Health, Melbourne, VIC, 3084, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne Austin Health, Melbourne, VIC, 3084</wicri:regionArea></affiliation></author><author><name sortKey="Bisulli, Francesca" sort="Bisulli, Francesca" uniqKey="Bisulli F" first="Francesca" last="Bisulli">Francesca Bisulli</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name><affiliation wicri:level="1"><nlm:affiliation>Neurophysiopathology and Epilepsy Center, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Neurophysiopathology and Epilepsy Center, IRCCS Foundation C. Besta Neurological Institute, Milan</wicri:regionArea></affiliation></author><author><name sortKey="Casari, Giorgio" sort="Casari, Giorgio" uniqKey="Casari G" first="Giorgio" last="Casari">Giorgio Casari</name><affiliation wicri:level="1"><nlm:affiliation>Division of Genetics and Cell Biology, Università Vita-Salute San Raffaele, San Raffaele Scientific Institute, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Division of Genetics and Cell Biology, Università Vita-Salute San Raffaele, San Raffaele Scientific Institute, Milan</wicri:regionArea></affiliation></author><author><name sortKey="Crompton, Douglas Ewan" sort="Crompton, Douglas Ewan" uniqKey="Crompton D" first="Douglas Ewan" last="Crompton">Douglas Ewan Crompton</name><affiliation wicri:level="1"><nlm:affiliation>Neurology Department, Northern Health, Melbourne, VIC, 3076, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Neurology Department, Northern Health, Melbourne, VIC, 3076</wicri:regionArea></affiliation></author><author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><affiliation wicri:level="1"><nlm:affiliation>Département de Médicine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Médicine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch</wicri:regionArea></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><nlm:affiliation>Robinson Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Robinson Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005</wicri:regionArea></affiliation></author><author><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence</wicri:regionArea></affiliation></author><author><name sortKey="Helbig, Ingo" sort="Helbig, Ingo" uniqKey="Helbig I" first="Ingo" last="Helbig">Ingo Helbig</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center, Kiel, Schleswig-Holstein, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center, Kiel, Schleswig-Holstein</wicri:regionArea></affiliation></author><author><name sortKey="Hirsch, Edouard" sort="Hirsch, Edouard" uniqKey="Hirsch E" first="Edouard" last="Hirsch">Edouard Hirsch</name><affiliation wicri:level="1"><nlm:affiliation>Medical and Surgical Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, Strasbourg, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Medical and Surgical Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, Strasbourg</wicri:regionArea></affiliation></author><author><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Klein, Karl Martin" sort="Klein, Karl Martin" uniqKey="Klein K" first="Karl Martin" last="Klein">Karl Martin Klein</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital, Goethe-University Frankfurt, Frankfurt, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital, Goethe-University Frankfurt, Frankfurt</wicri:regionArea></affiliation></author><author><name sortKey="Labauge, Pierre" sort="Labauge, Pierre" uniqKey="Labauge P" first="Pierre" last="Labauge">Pierre Labauge</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Montpellier University, Gui de Chauliac, 34295, Montpellier, Cedex 5, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, Montpellier University, Gui de Chauliac, 34295, Montpellier, Cedex 5</wicri:regionArea></affiliation></author><author><name sortKey="Leguern, Eric" sort="Leguern, Eric" uniqKey="Leguern E" first="Eric" last="Leguern">Eric Leguern</name><affiliation wicri:level="1"><nlm:affiliation>Sorbonne Universités, UPMC Univ Paris 06,UMR S 1127, ICM, 75013, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Sorbonne Universités, UPMC Univ Paris 06,UMR S 1127, ICM, 75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Mei, Davide" sort="Mei, Davide" uniqKey="Mei D" first="Davide" last="Mei">Davide Mei</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence</wicri:regionArea></affiliation></author><author><name sortKey="Nava, Caroline" sort="Nava, Caroline" uniqKey="Nava C" first="Caroline" last="Nava">Caroline Nava</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Pippucci, Tommaso" sort="Pippucci, Tommaso" uniqKey="Pippucci T" first="Tommaso" last="Pippucci">Tommaso Pippucci</name><affiliation wicri:level="1"><nlm:affiliation>Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi-Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi-Department of Medical and Surgical Sciences, University of Bologna, Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Rudolf, Gabrielle" sort="Rudolf, Gabrielle" uniqKey="Rudolf G" first="Gabrielle" last="Rudolf">Gabrielle Rudolf</name><affiliation wicri:level="1"><nlm:affiliation>Département de Médicine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Médicine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch</wicri:regionArea></affiliation></author><author><name sortKey="Scheffer, Ingrid Eileen" sort="Scheffer, Ingrid Eileen" uniqKey="Scheffer I" first="Ingrid Eileen" last="Scheffer">Ingrid Eileen Scheffer</name><affiliation wicri:level="1"><nlm:affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne Austin Health, Melbourne, VIC, 3084, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne Austin Health, Melbourne, VIC, 3084</wicri:regionArea></affiliation></author><author><name sortKey="Striano, Pasquale" sort="Striano, Pasquale" uniqKey="Striano P" first="Pasquale" last="Striano">Pasquale Striano</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Gaslini Institute, Genoa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Gaslini Institute, Genoa</wicri:regionArea></affiliation></author><author><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name><affiliation wicri:level="1"><nlm:affiliation>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Zara, Federico" sort="Zara, Federico" uniqKey="Zara F" first="Federico" last="Zara">Federico Zara</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Neurogenetics, Department of Neurosciences, Gaslini Institute, Genoa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Neurogenetics, Department of Neurosciences, Gaslini Institute, Genoa</wicri:regionArea></affiliation></author><author><name sortKey="Corbett, Mark" sort="Corbett, Mark" uniqKey="Corbett M" first="Mark" last="Corbett">Mark Corbett</name><affiliation wicri:level="1"><nlm:affiliation>Robinson Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Robinson Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005</wicri:regionArea></affiliation></author><author><name sortKey="Bahlo, Melanie" sort="Bahlo, Melanie" uniqKey="Bahlo M" first="Melanie" last="Bahlo">Melanie Bahlo</name><affiliation wicri:level="1"><nlm:affiliation>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia. bahlo@wehi.edu.au.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052</wicri:regionArea></affiliation></author></analytic><series><title level="j">Human genetics</title><idno type="eISSN">1432-1203</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alleles</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 2</term><term>Epilepsies, Myoclonic (genetics)</term><term>Epilepsies, Myoclonic (physiopathology)</term><term>Female</term><term>Founder Effect</term><term>Genetic Heterogeneity</term><term>Genetic Linkage</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Muscle, Smooth (physiopathology)</term><term>Pedigree</term><term>Polymorphism, Single Nucleotide</term><term>Seizures (genetics)</term><term>Seizures (physiopathology)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Allèles</term><term>Cartographie chromosomique</term><term>Chromosomes humains de la paire 2</term><term>Crises épileptiques (génétique)</term><term>Crises épileptiques (physiopathologie)</term><term>Effet fondateur</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Hétérogénéité génétique</term><term>Liaison génétique</term><term>Muscles lisses (physiopathologie)</term><term>Mâle</term><term>Pedigree</term><term>Polymorphisme de nucléotide simple</term><term>Épilepsies myocloniques (génétique)</term><term>Épilepsies myocloniques (physiopathologie)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Epilepsies, Myoclonic</term><term>Seizures</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Crises épileptiques</term><term>Épilepsies myocloniques</term></keywords><keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Crises épileptiques</term><term>Muscles lisses</term><term>Épilepsies myocloniques</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Epilepsies, Myoclonic</term><term>Muscle, Smooth</term><term>Seizures</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Alleles</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 2</term><term>Female</term><term>Founder Effect</term><term>Genetic Heterogeneity</term><term>Genetic Linkage</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Allèles</term><term>Cartographie chromosomique</term><term>Chromosomes humains de la paire 2</term><term>Effet fondateur</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Hétérogénéité génétique</term><term>Liaison génétique</term><term>Mâle</term><term>Pedigree</term><term>Polymorphisme de nucléotide simple</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder characterized by adult onset, involuntary muscle jerks, cortical myoclonus and occasional seizures. FAME is genetically heterogeneous with more than 70 families reported worldwide and five potential disease loci. The efforts to identify potential causal variants have been unsuccessful in all but three families. To date, linkage analysis has been the main approach to find and narrow FAME critical regions. We propose an alternative method, pedigree free identity-by-descent (IBD) mapping, that infers regions of the genome between individuals that have been inherited from a common ancestor. IBD mapping provides an alternative to linkage analysis in the presence of allelic and locus heterogeneity by detecting clusters of individuals who share a common allele. Succeeding IBD mapping, gene prioritization based on gene co-expression analysis can be used to identify the most promising candidate genes. We performed an IBD analysis using high-density single nucleotide polymorphism (SNP) array data followed by gene prioritization on a FAME cohort of ten European families and one Australian/New Zealander family; eight of which had known disease loci. By identifying IBD regions common to multiple families, we were able to narrow the FAME2 locus to a 9.78 megabase interval within 2p11.2-q11.2. We provide additional evidence of a founder effect in four Italian families and allelic heterogeneity with at least four distinct founders responsible for FAME at the FAME2 locus. In addition, we suggest candidate disease genes using gene prioritization based on gene co-expression analysis.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27368338</PMID><DateCreated><Year>2016</Year><Month>09</Month><Day>13</Day></DateCreated><DateCompleted><Year>2017</Year><Month>05</Month><Day>19</Day></DateCompleted><DateRevised><Year>2017</Year><Month>10</Month><Day>10</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1432-1203</ISSN><JournalIssue CitedMedium="Internet"><Volume>135</Volume><Issue>10</Issue><PubDate><Year>2016</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Human genetics</Title><ISOAbbreviation>Hum. Genet.</ISOAbbreviation></Journal><ArticleTitle>Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.</ArticleTitle><Pagination><MedlinePgn>1117-25</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1007/s00439-016-1700-8</ELocationID><Abstract><AbstractText>Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder characterized by adult onset, involuntary muscle jerks, cortical myoclonus and occasional seizures. FAME is genetically heterogeneous with more than 70 families reported worldwide and five potential disease loci. The efforts to identify potential causal variants have been unsuccessful in all but three families. To date, linkage analysis has been the main approach to find and narrow FAME critical regions. We propose an alternative method, pedigree free identity-by-descent (IBD) mapping, that infers regions of the genome between individuals that have been inherited from a common ancestor. IBD mapping provides an alternative to linkage analysis in the presence of allelic and locus heterogeneity by detecting clusters of individuals who share a common allele. Succeeding IBD mapping, gene prioritization based on gene co-expression analysis can be used to identify the most promising candidate genes. We performed an IBD analysis using high-density single nucleotide polymorphism (SNP) array data followed by gene prioritization on a FAME cohort of ten European families and one Australian/New Zealander family; eight of which had known disease loci. By identifying IBD regions common to multiple families, we were able to narrow the FAME2 locus to a 9.78 megabase interval within 2p11.2-q11.2. We provide additional evidence of a founder effect in four Italian families and allelic heterogeneity with at least four distinct founders responsible for FAME at the FAME2 locus. In addition, we suggest candidate disease genes using gene prioritization based on gene co-expression analysis.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Henden</LastName><ForeName>Lyndal</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Medical Biology, University of Melbourne, Melbourne, VIC, 3010, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Freytag</LastName><ForeName>Saskia</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Medical Biology, University of Melbourne, Melbourne, VIC, 3010, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Afawi</LastName><ForeName>Zaid</ForeName><Initials>Z</Initials><AffiliationInfo><Affiliation>Tel Aviv University Medical School, 69978, Tel Aviv, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baldassari</LastName><ForeName>Sara</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi-Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Berkovic</LastName><ForeName>Samuel F</ForeName><Initials>SF</Initials><AffiliationInfo><Affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne Austin Health, Melbourne, VIC, 3084, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bisulli</LastName><ForeName>Francesca</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Canafoglia</LastName><ForeName>Laura</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Neurophysiopathology and Epilepsy Center, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Casari</LastName><ForeName>Giorgio</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Division of Genetics and Cell Biology, Università Vita-Salute San Raffaele, San Raffaele Scientific Institute, Milan, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Crompton</LastName><ForeName>Douglas Ewan</ForeName><Initials>DE</Initials><AffiliationInfo><Affiliation>Neurology Department, Northern Health, Melbourne, VIC, 3076, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Depienne</LastName><ForeName>Christel</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Département de Médicine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Laboratoire de diagnostic génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gecz</LastName><ForeName>Jozef</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Robinson Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>School of Biological Sciences, The University of Adelaide, Adelaide, SA, 5005, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Guerrini</LastName><ForeName>Renzo</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>IRCCS Stella Maris Foundation, Pisa, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Helbig</LastName><ForeName>Ingo</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Department of Neuropediatrics, Christian-Albrechts-University of Kiel and University Medical Center, Kiel, Schleswig-Holstein, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Departments of Brain and Cognitive Sciences, Physiology and Cell Biology, Zlotowski Center for Neuroscience, Ben-Gurion University of the Negev, Negev, Israel.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hirsch</LastName><ForeName>Edouard</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Medical and Surgical Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, Strasbourg, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Keren</LastName><ForeName>Boris</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Sorbonne Universités, UPMC Univ Paris 06,UMR S 1127, ICM, 75013, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Klein</LastName><ForeName>Karl Martin</ForeName><Initials>KM</Initials><AffiliationInfo><Affiliation>Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, University Hospital, Goethe-University Frankfurt, Frankfurt, Germany.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Neurology, Epilepsy Center Hessen, University Hospitals Giessen and Marburg, Philipps-University Marburg, Marburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Labauge</LastName><ForeName>Pierre</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Neurology, Montpellier University, Gui de Chauliac, 34295, Montpellier, Cedex 5, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>LeGuern</LastName><ForeName>Eric</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Sorbonne Universités, UPMC Univ Paris 06,UMR S 1127, ICM, 75013, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>INSERM, U 1127; CNRS, UMR 7225; INSERM UMR 975; Institut du Cerveau et de la Moelle Epinière; and Département de Génétique et de Cytogénétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux De Paris (AP-HP), Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Université Pierre et Marie Curie (Paris 6) (UPMC), UMRS 975, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Licchetta</LastName><ForeName>Laura</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mei</LastName><ForeName>Davide</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nava</LastName><ForeName>Caroline</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Sorbonne Universités, UPMC Univ Paris 06,UMR S 1127, ICM, 75013, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pippucci</LastName><ForeName>Tommaso</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi-Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rudolf</LastName><ForeName>Gabrielle</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Département de Médicine translationnelle et Neurogénétique, IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Neurology, Hautepierre Hospital, University of Strasbourg, Strasbourg, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Scheffer</LastName><ForeName>Ingrid Eileen</ForeName><Initials>IE</Initials><AffiliationInfo><Affiliation>Epilepsy Research Centre, Department of Medicine, University of Melbourne Austin Health, Melbourne, VIC, 3084, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, 3084, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Striano</LastName><ForeName>Pasquale</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Gaslini Institute, Genoa, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tinuper</LastName><ForeName>Paolo</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zara</LastName><ForeName>Federico</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Laboratory of Neurogenetics, Department of Neurosciences, Gaslini Institute, Genoa, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Corbett</LastName><ForeName>Mark</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Robinson Institute and School of Medicine, The University of Adelaide, Adelaide, SA, 5005, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bahlo</LastName><ForeName>Melanie</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia. bahlo@wehi.edu.au.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Medical Biology, University of Melbourne, Melbourne, VIC, 3010, Australia. bahlo@wehi.edu.au.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>07</Month><Day>01</Day></ArticleDate></Article><MedlineJournalInfo><Country>Germany</Country><MedlineTA>Hum Genet</MedlineTA><NlmUniqueID>7613873</NlmUniqueID><ISSNLinking>0340-6717</ISSNLinking></MedlineJournalInfo><SupplMeshList><SupplMeshName Type="Disease" UI="C564313">Epilepsy, Myoclonic, Benign Adult Familial, Type 2</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Epilepsia. 2013 Jul;54(7):1298-306</RefSource><PMID Version="1">23663087</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nature. 2011 Oct 26;478(7370):483-9</RefSource><PMID Version="1">22031440</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Genetics. 2012 Apr;190(4):1447-60</RefSource><PMID Version="1">22298700</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Hum Genet. 2011 Oct;56(10):742-7</RefSource><PMID Version="1">21850007</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 1999 Oct 12;53(6):1180-3</RefSource><PMID Version="1">10522869</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Genome Biol. 2014;15(12):555</RefSource><PMID Version="1">25514851</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Eur J Hum Genet. 2014 Jan;22(1):71-8</RefSource><PMID Version="1">23632794</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurogenetics. 2008 May;9(2):139-42</RefSource><PMID Version="1">18231815</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 1999 Sep;65(3):745-51</RefSource><PMID Version="1">10441581</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurogenetics. 2008 Feb;9(1):69-71</RefSource><PMID Version="1">17992546</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2010 Apr 9;86(4):526-39</RefSource><PMID Version="1">20303063</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2014 Jan;75(1):77-87</RefSource><PMID Version="1">24114805</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 2000 Jul 28;275(30):23211-8</RefSource><PMID Version="1">10766764</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Brain. 2001 Dec;124(Pt 12):2459-75</RefSource><PMID Version="1">11701600</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Biotechnol. 2006 May;24(5):537-44</RefSource><PMID Version="1">16680138</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Brain. 2013 Apr;136(Pt 4):1155-60</RefSource><PMID Version="1">23518707</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Gene. 2003 May 22;310:101-11</RefSource><PMID Version="1">12801637</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Arch Neurol. 2012 Apr;69(4):474-81</RefSource><PMID Version="1">22491192</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nature. 2010 Sep 2;467(7311):52-8</RefSource><PMID Version="1">20811451</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Epilepsia. 2005 Dec;46(12):1993-5</RefSource><PMID Version="1">16393167</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Brain Res. 1997 Jun 13;759(2):313-6</RefSource><PMID Version="1">9221955</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Bioinformatics. 2016 Aug 1;32(15):2389-91</RefSource><PMID Version="1">27153693</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Arch Neurol. 1998 Dec;55(12):1569-73</RefSource><PMID Version="1">9865802</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Genome Res. 1998 Feb;8(2):81-2</RefSource><PMID Version="1">9477334</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>BMC Bioinformatics. 2015 Sep 24;16:309</RefSource><PMID Version="1">26403471</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2010 Jun 15;74(24):2000-3</RefSource><PMID Version="1">20548044</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Eur J Hum Genet. 2013 Feb;21(2):225-8</RefSource><PMID Version="1">22713812</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>PLoS One. 2014 Jul 09;9(7):e102079</RefSource><PMID Version="1">25014031</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Genet Epidemiol. 2009 Apr;33(3):266-74</RefSource><PMID Version="1">19025785</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 1990 Oct;40(10):1561-5</RefSource><PMID Version="1">2215948</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Cell. 2013 Sep 26;155(1):27-38</RefSource><PMID Version="1">24074859</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000483" MajorTopicYN="N">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002874" MajorTopicYN="N">Chromosome Mapping</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002889" MajorTopicYN="N">Chromosomes, Human, Pair 2</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004831" MajorTopicYN="N">Epilepsies, Myoclonic</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018703" MajorTopicYN="N">Founder Effect</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018740" MajorTopicYN="Y">Genetic Heterogeneity</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008040" MajorTopicYN="N">Genetic Linkage</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009130" MajorTopicYN="N">Muscle, Smooth</DescriptorName><QualifierName UI="Q000503" MajorTopicYN="Y">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020641" MajorTopicYN="N">Polymorphism, Single Nucleotide</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012640" MajorTopicYN="N">Seizures</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>04</Month><Day>18</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>06</Month><Day>21</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>7</Month><Day>3</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>7</Month><Day>3</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>5</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27368338</ArticleId><ArticleId IdType="doi">10.1007/s00439-016-1700-8</ArticleId><ArticleId IdType="pii">10.1007/s00439-016-1700-8</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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