RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
Identifieur interne : 000509 ( Main/Exploration ); précédent : 000508; suivant : 000510RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
Auteurs : Nicole Ulrick [États-Unis] ; Amy Goldstein [États-Unis] ; Cas Simons [Australie] ; Ryan J. Taft [États-Unis] ; Guy Helman [États-Unis] ; Amy Pizzino [États-Unis] ; Miriam Bloom [États-Unis] ; Julie Vogt [Royaume-Uni] ; Karen Pysden [Royaume-Uni] ; Daria Diodato [Italie] ; Diego Martinelli [Italie] ; Ahmad Monavari [Irlande (pays)] ; Daniela Buhas [Canada] ; Clara D M. Van Karnebeek [Canada] ; Imen Dorboz [France] ; Odile Boespflug-Tanguy [France] ; Diana Rodriguez [France] ; Martine Tétreault [Canada] ; Jacek Majewski [Canada] ; Genevieve Bernard [Canada] ; Yi Shiau Ng [Royaume-Uni] ; Robert Mcfarland [Royaume-Uni] ; Adeline Vanderver [États-Unis]Source :
- Pediatric neurology [ 1873-5150 ] ; 2017.
Abstract
Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutières syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. In view of the fact that congenital cytomegalovirus is difficult to confirm outside the neonatal period, excluding a Mendelian disorder is extremely relevant, changing family planning and medical management in affected families. We performed diagnostic testing in individuals with leukoencephalopathy with temporal lobe cysts without a definitive diagnosis of congenital cytomegalovirus infection.
DOI: 10.1016/j.pediatrneurol.2016.09.003
PubMed: 27843092
Affiliations:
- Australie, Canada, France, Irlande (pays), Italie, Royaume-Uni, États-Unis
- Angleterre, District de Columbia, Latium, Midlands de l'Ouest, Pennsylvanie, Québec, Île-de-France
- Birmingham, Montréal, Paris, Rome
- Université McGill
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Taft</name><affiliation wicri:level="2"><nlm:affiliation>Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia; Illumina Inc, San Diego, California; School of Medicine and Health Sciences, The George Washington University, Washington, DC.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">District de Columbia</region></placeName><wicri:cityArea>Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia; Illumina Inc, San Diego, California; School of Medicine and Health Sciences, The George Washington University, Washington</wicri:cityArea></affiliation></author><author><name sortKey="Helman, Guy" sort="Helman, Guy" uniqKey="Helman G" first="Guy" last="Helman">Guy Helman</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Children's National Medical Center, Washington, DC.</nlm:affiliation><country 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DC.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">District de Columbia</region></placeName><wicri:cityArea>Department of Neurology, Children's National Medical Center, Washington</wicri:cityArea></affiliation></author><author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name><affiliation wicri:level="3"><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Pysden, Karen" sort="Pysden, Karen" uniqKey="Pysden K" first="Karen" last="Pysden">Karen Pysden</name><affiliation wicri:level="1"><nlm:affiliation>Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></affiliation></author><author><name sortKey="Diodato, Daria" sort="Diodato, Daria" uniqKey="Diodato D" first="Daria" last="Diodato">Daria Diodato</name><affiliation wicri:level="3"><nlm:affiliation>Muscular and Neurodegenerative Disorders Unit, Ospedale Pediatrico Bambino Gesu, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Muscular and Neurodegenerative Disorders Unit, Ospedale Pediatrico Bambino Gesu, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Martinelli, Diego" sort="Martinelli, Diego" uniqKey="Martinelli D" first="Diego" last="Martinelli">Diego Martinelli</name><affiliation wicri:level="3"><nlm:affiliation>Division of Metabolism, Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Division of Metabolism, Bambino Gesu' Children's Hospital, IRCCS, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Monavari, Ahmad" sort="Monavari, Ahmad" uniqKey="Monavari A" first="Ahmad" last="Monavari">Ahmad Monavari</name><affiliation wicri:level="1"><nlm:affiliation>Temple Street Children's University Hospital, Dublin, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Temple Street Children's University Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Buhas, Daniela" sort="Buhas, Daniela" uniqKey="Buhas D" first="Daniela" last="Buhas">Daniela Buhas</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Van Karnebeek, Clara D M" sort="Van Karnebeek, Clara D M" uniqKey="Van Karnebeek C" first="Clara D M" last="Van Karnebeek">Clara D M. Van Karnebeek</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Dorboz, Imen" sort="Dorboz, Imen" uniqKey="Dorboz I" first="Imen" last="Dorboz">Imen Dorboz</name><affiliation wicri:level="1"><nlm:affiliation>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité</wicri:regionArea><wicri:noRegion>Sorbonne Paris Cité</wicri:noRegion><wicri:noRegion>Sorbonne Paris Cité</wicri:noRegion></affiliation></author><author><name sortKey="Boespflug Tanguy, Odile" sort="Boespflug Tanguy, Odile" uniqKey="Boespflug Tanguy O" first="Odile" last="Boespflug-Tanguy">Odile Boespflug-Tanguy</name><affiliation wicri:level="3"><nlm:affiliation>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France; AP-HP, Department of Neuropediatrics and Metabolic Diseases, National Reference Center for Leukodystrophies, Robert Debré Hospital, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France; AP-HP, Department of Neuropediatrics and Metabolic Diseases, National Reference Center for Leukodystrophies, Robert Debré Hospital, Paris</wicri:regionArea><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="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name><affiliation wicri:level="3"><nlm:affiliation>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France; GRC ConCer-LD, Sorbonne Universités, UPMC Université Paris 06, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France; GRC ConCer-LD, Sorbonne Universités, UPMC Université Paris 06, Paris</wicri:regionArea><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="Tetreault, Martine" sort="Tetreault, Martine" uniqKey="Tetreault M" first="Martine" last="Tétreault">Martine Tétreault</name><affiliation wicri:level="4"><nlm:affiliation>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; McGill University and Genome Quebec Innovation Center, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name><affiliation wicri:level="4"><nlm:affiliation>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; McGill University and Genome Quebec Innovation Center, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Genevieve" last="Bernard">Genevieve Bernard</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of Pediatrics McGill University, Montreal, Quebec, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of Pediatrics McGill University, Montreal, Quebec, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Ng, Yi Shiau" sort="Ng, Yi Shiau" uniqKey="Ng Y" first="Yi Shiau" last="Ng">Yi Shiau Ng</name><affiliation wicri:level="1"><nlm:affiliation>Wellcome Trust Centre for Mitochondrial Research, Newcastle University, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wellcome Trust Centre for Mitochondrial Research, Newcastle University</wicri:regionArea><wicri:noRegion>Newcastle University</wicri:noRegion></affiliation></author><author><name sortKey="Mcfarland, Robert" sort="Mcfarland, Robert" uniqKey="Mcfarland R" first="Robert" last="Mcfarland">Robert Mcfarland</name><affiliation wicri:level="1"><nlm:affiliation>Wellcome Trust Centre for Mitochondrial Research, Newcastle University, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wellcome Trust Centre for Mitochondrial Research, Newcastle University</wicri:regionArea><wicri:noRegion>Newcastle University</wicri:noRegion></affiliation></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington, DC. Electronic address: avanderv@childrensnational.org.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">District de Columbia</region></placeName><wicri:cityArea>Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington</wicri:cityArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:27843092</idno><idno type="pmid">27843092</idno><idno type="doi">10.1016/j.pediatrneurol.2016.09.003</idno><idno type="wicri:Area/PubMed/Corpus">001259</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001259</idno><idno type="wicri:Area/PubMed/Curation">001248</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001248</idno><idno type="wicri:Area/PubMed/Checkpoint">001248</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001248</idno><idno type="wicri:Area/Ncbi/Merge">003E62</idno><idno type="wicri:Area/Ncbi/Curation">003E62</idno><idno type="wicri:Area/Ncbi/Checkpoint">003E62</idno><idno type="wicri:Area/Main/Merge">000504</idno><idno type="wicri:Area/Main/Curation">000509</idno><idno type="wicri:Area/Main/Exploration">000509</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.</title><author><name sortKey="Ulrick, Nicole" sort="Ulrick, Nicole" uniqKey="Ulrick N" first="Nicole" last="Ulrick">Nicole Ulrick</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Children's National Medical Center, Washington, DC.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">District de Columbia</region></placeName><wicri:cityArea>Department of Neurology, Children's National Medical Center, Washington</wicri:cityArea></affiliation></author><author><name sortKey="Goldstein, Amy" sort="Goldstein, Amy" uniqKey="Goldstein A" first="Amy" last="Goldstein">Amy Goldstein</name><affiliation wicri:level="2"><nlm:affiliation>Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Children's Hospital of Pittsburgh, Pittsburgh</wicri:cityArea></affiliation></author><author><name sortKey="Simons, Cas" sort="Simons, Cas" uniqKey="Simons C" first="Cas" last="Simons">Cas Simons</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Taft, Ryan J" sort="Taft, Ryan J" uniqKey="Taft R" first="Ryan J" last="Taft">Ryan J. Taft</name><affiliation wicri:level="2"><nlm:affiliation>Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia; Illumina Inc, San Diego, California; School of Medicine and Health Sciences, The George Washington University, Washington, DC.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">District de Columbia</region></placeName><wicri:cityArea>Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia; Illumina Inc, San Diego, California; School of Medicine and Health Sciences, The George Washington University, Washington</wicri:cityArea></affiliation></author><author><name sortKey="Helman, Guy" sort="Helman, Guy" uniqKey="Helman G" first="Guy" last="Helman">Guy Helman</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Children's National Medical Center, Washington, DC.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">District de Columbia</region></placeName><wicri:cityArea>Department of Neurology, Children's National Medical Center, Washington</wicri:cityArea></affiliation></author><author><name sortKey="Pizzino, Amy" sort="Pizzino, Amy" uniqKey="Pizzino A" first="Amy" last="Pizzino">Amy Pizzino</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Children's National Medical Center, Washington, DC.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">District de Columbia</region></placeName><wicri:cityArea>Department of Neurology, Children's National Medical Center, Washington</wicri:cityArea></affiliation></author><author><name sortKey="Bloom, Miriam" sort="Bloom, Miriam" uniqKey="Bloom M" first="Miriam" last="Bloom">Miriam Bloom</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Children's National Medical Center, Washington, DC.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">District de Columbia</region></placeName><wicri:cityArea>Department of Neurology, Children's National Medical Center, Washington</wicri:cityArea></affiliation></author><author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name><affiliation wicri:level="3"><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Pysden, Karen" sort="Pysden, Karen" uniqKey="Pysden K" first="Karen" last="Pysden">Karen Pysden</name><affiliation wicri:level="1"><nlm:affiliation>Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></affiliation></author><author><name sortKey="Diodato, Daria" sort="Diodato, Daria" uniqKey="Diodato D" first="Daria" last="Diodato">Daria Diodato</name><affiliation wicri:level="3"><nlm:affiliation>Muscular and Neurodegenerative Disorders Unit, Ospedale Pediatrico Bambino Gesu, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Muscular and Neurodegenerative Disorders Unit, Ospedale Pediatrico Bambino Gesu, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Martinelli, Diego" sort="Martinelli, Diego" uniqKey="Martinelli D" first="Diego" last="Martinelli">Diego Martinelli</name><affiliation wicri:level="3"><nlm:affiliation>Division of Metabolism, Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Division of Metabolism, Bambino Gesu' Children's Hospital, IRCCS, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Monavari, Ahmad" sort="Monavari, Ahmad" uniqKey="Monavari A" first="Ahmad" last="Monavari">Ahmad Monavari</name><affiliation wicri:level="1"><nlm:affiliation>Temple Street Children's University Hospital, Dublin, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Temple Street Children's University Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Buhas, Daniela" sort="Buhas, Daniela" uniqKey="Buhas D" first="Daniela" last="Buhas">Daniela Buhas</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Van Karnebeek, Clara D M" sort="Van Karnebeek, Clara D M" uniqKey="Van Karnebeek C" first="Clara D M" last="Van Karnebeek">Clara D M. Van Karnebeek</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Dorboz, Imen" sort="Dorboz, Imen" uniqKey="Dorboz I" first="Imen" last="Dorboz">Imen Dorboz</name><affiliation wicri:level="1"><nlm:affiliation>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité</wicri:regionArea><wicri:noRegion>Sorbonne Paris Cité</wicri:noRegion><wicri:noRegion>Sorbonne Paris Cité</wicri:noRegion></affiliation></author><author><name sortKey="Boespflug Tanguy, Odile" sort="Boespflug Tanguy, Odile" uniqKey="Boespflug Tanguy O" first="Odile" last="Boespflug-Tanguy">Odile Boespflug-Tanguy</name><affiliation wicri:level="3"><nlm:affiliation>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France; AP-HP, Department of Neuropediatrics and Metabolic Diseases, National Reference Center for Leukodystrophies, Robert Debré Hospital, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France; AP-HP, Department of Neuropediatrics and Metabolic Diseases, National Reference Center for Leukodystrophies, Robert Debré Hospital, Paris</wicri:regionArea><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="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name><affiliation wicri:level="3"><nlm:affiliation>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France; GRC ConCer-LD, Sorbonne Universités, UPMC Université Paris 06, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France; GRC ConCer-LD, Sorbonne Universités, UPMC Université Paris 06, Paris</wicri:regionArea><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="Tetreault, Martine" sort="Tetreault, Martine" uniqKey="Tetreault M" first="Martine" last="Tétreault">Martine Tétreault</name><affiliation wicri:level="4"><nlm:affiliation>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; McGill University and Genome Quebec Innovation Center, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name><affiliation wicri:level="4"><nlm:affiliation>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, McGill University, Montreal, Quebec, Canada; McGill University and Genome Quebec Innovation Center, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Genevieve" last="Bernard">Genevieve Bernard</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of Pediatrics McGill University, Montreal, Quebec, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of Pediatrics McGill University, Montreal, Quebec, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Ng, Yi Shiau" sort="Ng, Yi Shiau" uniqKey="Ng Y" first="Yi Shiau" last="Ng">Yi Shiau Ng</name><affiliation wicri:level="1"><nlm:affiliation>Wellcome Trust Centre for Mitochondrial Research, Newcastle University, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wellcome Trust Centre for Mitochondrial Research, Newcastle University</wicri:regionArea><wicri:noRegion>Newcastle University</wicri:noRegion></affiliation></author><author><name sortKey="Mcfarland, Robert" sort="Mcfarland, Robert" uniqKey="Mcfarland R" first="Robert" last="Mcfarland">Robert Mcfarland</name><affiliation wicri:level="1"><nlm:affiliation>Wellcome Trust Centre for Mitochondrial Research, Newcastle University, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wellcome Trust Centre for Mitochondrial Research, Newcastle University</wicri:regionArea><wicri:noRegion>Newcastle University</wicri:noRegion></affiliation></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington, DC. Electronic address: avanderv@childrensnational.org.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">District de Columbia</region></placeName><wicri:cityArea>Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington</wicri:cityArea></affiliation></author></analytic><series><title level="j">Pediatric neurology</title><idno type="eISSN">1873-5150</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutières syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. In view of the fact that congenital cytomegalovirus is difficult to confirm outside the neonatal period, excluding a Mendelian disorder is extremely relevant, changing family planning and medical management in affected families. We performed diagnostic testing in individuals with leukoencephalopathy with temporal lobe cysts without a definitive diagnosis of congenital cytomegalovirus infection.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Canada</li><li>France</li><li>Irlande (pays)</li><li>Italie</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>District de Columbia</li><li>Latium</li><li>Midlands de l'Ouest</li><li>Pennsylvanie</li><li>Québec</li><li>Île-de-France</li></region><settlement><li>Birmingham</li><li>Montréal</li><li>Paris</li><li>Rome</li></settlement><orgName><li>Université McGill</li></orgName></list><tree><country name="États-Unis"><region name="District de Columbia"><name sortKey="Ulrick, Nicole" sort="Ulrick, Nicole" uniqKey="Ulrick N" first="Nicole" last="Ulrick">Nicole Ulrick</name></region><name sortKey="Bloom, Miriam" sort="Bloom, Miriam" uniqKey="Bloom M" first="Miriam" last="Bloom">Miriam Bloom</name><name sortKey="Goldstein, Amy" sort="Goldstein, Amy" uniqKey="Goldstein A" first="Amy" last="Goldstein">Amy Goldstein</name><name sortKey="Helman, Guy" sort="Helman, Guy" uniqKey="Helman G" first="Guy" last="Helman">Guy Helman</name><name sortKey="Pizzino, Amy" sort="Pizzino, Amy" uniqKey="Pizzino A" first="Amy" last="Pizzino">Amy Pizzino</name><name sortKey="Taft, Ryan J" sort="Taft, Ryan J" uniqKey="Taft R" first="Ryan J" last="Taft">Ryan J. Taft</name><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name></country><country name="Australie"><noRegion><name sortKey="Simons, Cas" sort="Simons, Cas" uniqKey="Simons C" first="Cas" last="Simons">Cas Simons</name></noRegion></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name></region><name sortKey="Mcfarland, Robert" sort="Mcfarland, Robert" uniqKey="Mcfarland R" first="Robert" last="Mcfarland">Robert Mcfarland</name><name sortKey="Ng, Yi Shiau" sort="Ng, Yi Shiau" uniqKey="Ng Y" first="Yi Shiau" last="Ng">Yi Shiau Ng</name><name sortKey="Pysden, Karen" sort="Pysden, Karen" uniqKey="Pysden K" first="Karen" last="Pysden">Karen Pysden</name></country><country name="Italie"><region name="Latium"><name sortKey="Diodato, Daria" sort="Diodato, Daria" uniqKey="Diodato D" first="Daria" last="Diodato">Daria Diodato</name></region><name sortKey="Martinelli, Diego" sort="Martinelli, Diego" uniqKey="Martinelli D" first="Diego" last="Martinelli">Diego Martinelli</name></country><country name="Irlande (pays)"><noRegion><name sortKey="Monavari, Ahmad" sort="Monavari, Ahmad" uniqKey="Monavari A" first="Ahmad" last="Monavari">Ahmad Monavari</name></noRegion></country><country name="Canada"><noRegion><name sortKey="Buhas, Daniela" sort="Buhas, Daniela" uniqKey="Buhas D" first="Daniela" last="Buhas">Daniela Buhas</name></noRegion><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Genevieve" last="Bernard">Genevieve Bernard</name><name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name><name sortKey="Tetreault, Martine" sort="Tetreault, Martine" uniqKey="Tetreault M" first="Martine" last="Tétreault">Martine Tétreault</name><name sortKey="Van Karnebeek, Clara D M" sort="Van Karnebeek, Clara D M" uniqKey="Van Karnebeek C" first="Clara D M" last="Van Karnebeek">Clara D M. Van Karnebeek</name></country><country name="France"><noRegion><name sortKey="Dorboz, Imen" sort="Dorboz, Imen" uniqKey="Dorboz I" first="Imen" last="Dorboz">Imen Dorboz</name></noRegion><name sortKey="Boespflug Tanguy, Odile" sort="Boespflug Tanguy, Odile" uniqKey="Boespflug Tanguy O" first="Odile" last="Boespflug-Tanguy">Odile Boespflug-Tanguy</name><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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