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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Infantile Spasms Is Associated with Deletion of the <italic>MAGI2</italic> Gene on Chromosome 7q11.23-q21.11</title><author><name sortKey="Marshall, Christian R" sort="Marshall, Christian R" uniqKey="Marshall C" first="Christian R." last="Marshall">Christian R. Marshall</name><affiliation><nlm:aff id="aff1">Program in Genetics & Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada</nlm:aff></affiliation></author><author><name sortKey="Young, Edwin J" sort="Young, Edwin J" uniqKey="Young E" first="Edwin J." last="Young">Edwin J. Young</name><affiliation><nlm:aff id="aff3">Institute of Medical Science, University of Toronto, Toronto, ON M5S 1A8, Canada</nlm:aff></affiliation></author><author><name sortKey="Pani, Ariel M" sort="Pani, Ariel M" uniqKey="Pani A" first="Ariel M." last="Pani">Ariel M. Pani</name><affiliation><nlm:aff id="aff5">Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, KY 40292, USA</nlm:aff></affiliation></author><author><name sortKey="Freckmann, Mary Louise" sort="Freckmann, Mary Louise" uniqKey="Freckmann M" first="Mary-Louise" last="Freckmann">Mary-Louise Freckmann</name><affiliation><nlm:aff id="aff7">Department of Clinical Genetics, Sydney Children's Hospital, Randwick, NSW 2031, Australia</nlm:aff></affiliation></author><author><name sortKey="Lacassie, Yves" sort="Lacassie, Yves" uniqKey="Lacassie Y" first="Yves" last="Lacassie">Yves Lacassie</name><affiliation><nlm:aff id="aff8">Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center and Children's Hospital, New Orleans, LA 70118, USA</nlm:aff></affiliation></author><author><name sortKey="Howald, Cedric" sort="Howald, Cedric" uniqKey="Howald C" first="Cédric" last="Howald">Cédric Howald</name><affiliation><nlm:aff id="aff9">The Center for Integrative Genomics, University of Lausanne, Genopode building, 1015 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Fitzgerald, Kristi K" sort="Fitzgerald, Kristi K" uniqKey="Fitzgerald K" first="Kristi K." last="Fitzgerald">Kristi K. Fitzgerald</name><affiliation><nlm:aff id="aff10">Section of Metabolic Diseases and Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA</nlm:aff></affiliation></author><author><name sortKey="Peippo, Maarit" sort="Peippo, Maarit" uniqKey="Peippo M" first="Maarit" last="Peippo">Maarit Peippo</name><affiliation><nlm:aff id="aff11">Department of Medical Genetics, Väestöliitto, 00101 Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Morris, Colleen A" sort="Morris, Colleen A" uniqKey="Morris C" first="Colleen A." last="Morris">Colleen A. Morris</name><affiliation><nlm:aff id="aff12">Department of Pediatrics, University of Nevada School of Medicine, Las Vegas 89102, NV, USA</nlm:aff></affiliation></author><author><name sortKey="Shane, Kate" sort="Shane, Kate" uniqKey="Shane K" first="Kate" last="Shane">Kate Shane</name><affiliation><nlm:aff id="aff13">Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH 43205, USA</nlm:aff></affiliation></author><author><name sortKey="Priolo, Manuela" sort="Priolo, Manuela" uniqKey="Priolo M" first="Manuela" last="Priolo">Manuela Priolo</name><affiliation><nlm:aff id="aff14">Operative Unit of Medical Genetics, Hospital of Reggio Calabria Az. Ospedaliera Bianchi-Melacrino-Morelli, 89100 Reggio Calabria, Italy</nlm:aff></affiliation></author><author><name sortKey="Morimoto, Masafumi" sort="Morimoto, Masafumi" uniqKey="Morimoto M" first="Masafumi" last="Morimoto">Masafumi Morimoto</name><affiliation><nlm:aff id="aff15">Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan</nlm:aff></affiliation></author><author><name sortKey="Kondo, Ikuko" sort="Kondo, Ikuko" uniqKey="Kondo I" first="Ikuko" last="Kondo">Ikuko Kondo</name><affiliation><nlm:aff id="aff16">Department of Pediatrics, Ibaraki Prefectural Handicapped Children's Center, Ibaraki 310-0845, Japan</nlm:aff></affiliation></author><author><name sortKey="Manguoglu, Esra" sort="Manguoglu, Esra" uniqKey="Manguoglu E" first="Esra" last="Manguoglu">Esra Manguoglu</name><affiliation><nlm:aff id="aff17">Department of Medical Biology and Genetics, Medical School, Akdeniz University, 07070 Antalya, Turkey</nlm:aff></affiliation></author><author><name sortKey="Berker Karauzum, Sibel" sort="Berker Karauzum, Sibel" uniqKey="Berker Karauzum S" first="Sibel" last="Berker-Karauzum">Sibel Berker-Karauzum</name><affiliation><nlm:aff id="aff17">Department of Medical Biology and Genetics, Medical School, Akdeniz University, 07070 Antalya, Turkey</nlm:aff></affiliation></author><author><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name><affiliation><nlm:aff id="aff18">Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle – Centre de Biologie et de Pathologie Est, 59 Boulevard Pinel, Bron 69677, France</nlm:aff></affiliation></author><author><name sortKey="Hobart, Holly H" sort="Hobart, Holly H" uniqKey="Hobart H" first="Holly H." last="Hobart">Holly H. Hobart</name><affiliation><nlm:aff id="aff12">Department of Pediatrics, University of Nevada School of Medicine, Las Vegas 89102, NV, USA</nlm:aff></affiliation></author><author><name sortKey="Mervis, Carolyn B" sort="Mervis, Carolyn B" uniqKey="Mervis C" first="Carolyn B." last="Mervis">Carolyn B. Mervis</name><affiliation><nlm:aff id="aff6">Department of Psychological and Brain Sciences, University of Louisville, Louisville, KY 40292, USA</nlm:aff></affiliation></author><author><name sortKey="Zuffardi, Orsetta" sort="Zuffardi, Orsetta" uniqKey="Zuffardi O" first="Orsetta" last="Zuffardi">Orsetta Zuffardi</name><affiliation><nlm:aff id="aff19">Biologia Generale e Genetica Medica, Università di Pavia, and IRCCS Policlinico, San Matteo, 27100 Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Reymond, Alexandre" sort="Reymond, Alexandre" uniqKey="Reymond A" first="Alexandre" last="Reymond">Alexandre Reymond</name><affiliation><nlm:aff id="aff9">The Center for Integrative Genomics, University of Lausanne, Genopode building, 1015 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Kaplan, Paige" sort="Kaplan, Paige" uniqKey="Kaplan P" first="Paige" last="Kaplan">Paige Kaplan</name><affiliation><nlm:aff id="aff9">The Center for Integrative Genomics, University of Lausanne, Genopode building, 1015 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Tassabehji, May" sort="Tassabehji, May" uniqKey="Tassabehji M" first="May" last="Tassabehji">May Tassabehji</name><affiliation><nlm:aff id="aff20">Academic Unit of Medical Genetics, The University of Manchester, St Mary's Hospital, Manchester M13 0JH, UK</nlm:aff></affiliation></author><author><name sortKey="Gregg, Ronald G" sort="Gregg, Ronald G" uniqKey="Gregg R" first="Ronald G." last="Gregg">Ronald G. Gregg</name><affiliation><nlm:aff id="aff5">Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, KY 40292, USA</nlm:aff></affiliation></author><author><name sortKey="Scherer, Stephen W" sort="Scherer, Stephen W" uniqKey="Scherer S" first="Stephen W." last="Scherer">Stephen W. Scherer</name><affiliation><nlm:aff id="aff1">Program in Genetics & Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada</nlm:aff></affiliation></author><author><name sortKey="Osborne, Lucy R" sort="Osborne, Lucy R" uniqKey="Osborne L" first="Lucy R." last="Osborne">Lucy R. Osborne</name><affiliation><nlm:aff id="aff2">Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Institute of Medical Science, University of Toronto, Toronto, ON M5S 1A8, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Department of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">18565486</idno><idno type="pmc">2443840</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2443840</idno><idno type="RBID">PMC:2443840</idno><idno type="doi">10.1016/j.ajhg.2008.06.001</idno><date when="2008">2008</date><idno type="wicri:Area/Pmc/Corpus">001221</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001221</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Infantile Spasms Is Associated with Deletion of the <italic>MAGI2</italic> Gene on Chromosome 7q11.23-q21.11</title><author><name sortKey="Marshall, Christian R" sort="Marshall, Christian R" uniqKey="Marshall C" first="Christian R." last="Marshall">Christian R. Marshall</name><affiliation><nlm:aff id="aff1">Program in Genetics & Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada</nlm:aff></affiliation></author><author><name sortKey="Young, Edwin J" sort="Young, Edwin J" uniqKey="Young E" first="Edwin J." last="Young">Edwin J. Young</name><affiliation><nlm:aff id="aff3">Institute of Medical Science, University of Toronto, Toronto, ON M5S 1A8, Canada</nlm:aff></affiliation></author><author><name sortKey="Pani, Ariel M" sort="Pani, Ariel M" uniqKey="Pani A" first="Ariel M." last="Pani">Ariel M. Pani</name><affiliation><nlm:aff id="aff5">Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, KY 40292, USA</nlm:aff></affiliation></author><author><name sortKey="Freckmann, Mary Louise" sort="Freckmann, Mary Louise" uniqKey="Freckmann M" first="Mary-Louise" last="Freckmann">Mary-Louise Freckmann</name><affiliation><nlm:aff id="aff7">Department of Clinical Genetics, Sydney Children's Hospital, Randwick, NSW 2031, Australia</nlm:aff></affiliation></author><author><name sortKey="Lacassie, Yves" sort="Lacassie, Yves" uniqKey="Lacassie Y" first="Yves" last="Lacassie">Yves Lacassie</name><affiliation><nlm:aff id="aff8">Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center and Children's Hospital, New Orleans, LA 70118, USA</nlm:aff></affiliation></author><author><name sortKey="Howald, Cedric" sort="Howald, Cedric" uniqKey="Howald C" first="Cédric" last="Howald">Cédric Howald</name><affiliation><nlm:aff id="aff9">The Center for Integrative Genomics, University of Lausanne, Genopode building, 1015 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Fitzgerald, Kristi K" sort="Fitzgerald, Kristi K" uniqKey="Fitzgerald K" first="Kristi K." last="Fitzgerald">Kristi K. Fitzgerald</name><affiliation><nlm:aff id="aff10">Section of Metabolic Diseases and Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA</nlm:aff></affiliation></author><author><name sortKey="Peippo, Maarit" sort="Peippo, Maarit" uniqKey="Peippo M" first="Maarit" last="Peippo">Maarit Peippo</name><affiliation><nlm:aff id="aff11">Department of Medical Genetics, Väestöliitto, 00101 Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Morris, Colleen A" sort="Morris, Colleen A" uniqKey="Morris C" first="Colleen A." last="Morris">Colleen A. Morris</name><affiliation><nlm:aff id="aff12">Department of Pediatrics, University of Nevada School of Medicine, Las Vegas 89102, NV, USA</nlm:aff></affiliation></author><author><name sortKey="Shane, Kate" sort="Shane, Kate" uniqKey="Shane K" first="Kate" last="Shane">Kate Shane</name><affiliation><nlm:aff id="aff13">Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH 43205, USA</nlm:aff></affiliation></author><author><name sortKey="Priolo, Manuela" sort="Priolo, Manuela" uniqKey="Priolo M" first="Manuela" last="Priolo">Manuela Priolo</name><affiliation><nlm:aff id="aff14">Operative Unit of Medical Genetics, Hospital of Reggio Calabria Az. Ospedaliera Bianchi-Melacrino-Morelli, 89100 Reggio Calabria, Italy</nlm:aff></affiliation></author><author><name sortKey="Morimoto, Masafumi" sort="Morimoto, Masafumi" uniqKey="Morimoto M" first="Masafumi" last="Morimoto">Masafumi Morimoto</name><affiliation><nlm:aff id="aff15">Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan</nlm:aff></affiliation></author><author><name sortKey="Kondo, Ikuko" sort="Kondo, Ikuko" uniqKey="Kondo I" first="Ikuko" last="Kondo">Ikuko Kondo</name><affiliation><nlm:aff id="aff16">Department of Pediatrics, Ibaraki Prefectural Handicapped Children's Center, Ibaraki 310-0845, Japan</nlm:aff></affiliation></author><author><name sortKey="Manguoglu, Esra" sort="Manguoglu, Esra" uniqKey="Manguoglu E" first="Esra" last="Manguoglu">Esra Manguoglu</name><affiliation><nlm:aff id="aff17">Department of Medical Biology and Genetics, Medical School, Akdeniz University, 07070 Antalya, Turkey</nlm:aff></affiliation></author><author><name sortKey="Berker Karauzum, Sibel" sort="Berker Karauzum, Sibel" uniqKey="Berker Karauzum S" first="Sibel" last="Berker-Karauzum">Sibel Berker-Karauzum</name><affiliation><nlm:aff id="aff17">Department of Medical Biology and Genetics, Medical School, Akdeniz University, 07070 Antalya, Turkey</nlm:aff></affiliation></author><author><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name><affiliation><nlm:aff id="aff18">Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle – Centre de Biologie et de Pathologie Est, 59 Boulevard Pinel, Bron 69677, France</nlm:aff></affiliation></author><author><name sortKey="Hobart, Holly H" sort="Hobart, Holly H" uniqKey="Hobart H" first="Holly H." last="Hobart">Holly H. Hobart</name><affiliation><nlm:aff id="aff12">Department of Pediatrics, University of Nevada School of Medicine, Las Vegas 89102, NV, USA</nlm:aff></affiliation></author><author><name sortKey="Mervis, Carolyn B" sort="Mervis, Carolyn B" uniqKey="Mervis C" first="Carolyn B." last="Mervis">Carolyn B. Mervis</name><affiliation><nlm:aff id="aff6">Department of Psychological and Brain Sciences, University of Louisville, Louisville, KY 40292, USA</nlm:aff></affiliation></author><author><name sortKey="Zuffardi, Orsetta" sort="Zuffardi, Orsetta" uniqKey="Zuffardi O" first="Orsetta" last="Zuffardi">Orsetta Zuffardi</name><affiliation><nlm:aff id="aff19">Biologia Generale e Genetica Medica, Università di Pavia, and IRCCS Policlinico, San Matteo, 27100 Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Reymond, Alexandre" sort="Reymond, Alexandre" uniqKey="Reymond A" first="Alexandre" last="Reymond">Alexandre Reymond</name><affiliation><nlm:aff id="aff9">The Center for Integrative Genomics, University of Lausanne, Genopode building, 1015 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Kaplan, Paige" sort="Kaplan, Paige" uniqKey="Kaplan P" first="Paige" last="Kaplan">Paige Kaplan</name><affiliation><nlm:aff id="aff9">The Center for Integrative Genomics, University of Lausanne, Genopode building, 1015 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Tassabehji, May" sort="Tassabehji, May" uniqKey="Tassabehji M" first="May" last="Tassabehji">May Tassabehji</name><affiliation><nlm:aff id="aff20">Academic Unit of Medical Genetics, The University of Manchester, St Mary's Hospital, Manchester M13 0JH, UK</nlm:aff></affiliation></author><author><name sortKey="Gregg, Ronald G" sort="Gregg, Ronald G" uniqKey="Gregg R" first="Ronald G." last="Gregg">Ronald G. Gregg</name><affiliation><nlm:aff id="aff5">Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, KY 40292, USA</nlm:aff></affiliation></author><author><name sortKey="Scherer, Stephen W" sort="Scherer, Stephen W" uniqKey="Scherer S" first="Stephen W." last="Scherer">Stephen W. Scherer</name><affiliation><nlm:aff id="aff1">Program in Genetics & Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada</nlm:aff></affiliation></author><author><name sortKey="Osborne, Lucy R" sort="Osborne, Lucy R" uniqKey="Osborne L" first="Lucy R." last="Osborne">Lucy R. Osborne</name><affiliation><nlm:aff id="aff2">Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Institute of Medical Science, University of Toronto, Toronto, ON M5S 1A8, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Department of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation. Here, we identify a locus for IS by high-resolution mapping of 7q11.23-q21.1 interstitial deletions in patients. The breakpoints delineate a 500 kb interval within the <italic>MAGI2</italic> gene (1.4 Mb in size) that is hemizygously disrupted in 15 of 16 participants with IS or childhood epilepsy, but remains intact in 11 of 12 participants with no seizure history. <italic>MAGI2</italic> encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the <italic>stargazer</italic> mouse.</p></div></front></TEI><pmc article-type="brief-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">18565486</article-id><article-id pub-id-type="pmc">2443840</article-id><article-id pub-id-type="publisher-id">AJHG184</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2008.06.001</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Infantile Spasms Is Associated with Deletion of the <italic>MAGI2</italic> Gene on Chromosome 7q11.23-q21.11</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Marshall</surname><given-names>Christian R.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">21</xref></contrib><contrib contrib-type="author"><name><surname>Young</surname><given-names>Edwin J.</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="fn1" ref-type="fn">21</xref></contrib><contrib contrib-type="author"><name><surname>Pani</surname><given-names>Ariel M.</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Freckmann</surname><given-names>Mary-Louise</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Lacassie</surname><given-names>Yves</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Howald</surname><given-names>Cédric</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Fitzgerald</surname><given-names>Kristi K.</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Peippo</surname><given-names>Maarit</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Morris</surname><given-names>Colleen A.</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Shane</surname><given-names>Kate</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Priolo</surname><given-names>Manuela</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Morimoto</surname><given-names>Masafumi</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Kondo</surname><given-names>Ikuko</given-names></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Manguoglu</surname><given-names>Esra</given-names></name><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Berker-Karauzum</surname><given-names>Sibel</given-names></name><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Edery</surname><given-names>Patrick</given-names></name><xref rid="aff18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Hobart</surname><given-names>Holly H.</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Mervis</surname><given-names>Carolyn B.</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Zuffardi</surname><given-names>Orsetta</given-names></name><xref rid="aff19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>Reymond</surname><given-names>Alexandre</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Kaplan</surname><given-names>Paige</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Tassabehji</surname><given-names>May</given-names></name><xref rid="aff20" ref-type="aff">20</xref></contrib><contrib contrib-type="author"><name><surname>Gregg</surname><given-names>Ronald G.</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Scherer</surname><given-names>Stephen W.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Osborne</surname><given-names>Lucy R.</given-names></name><email>lucy.osborne@utoronto.ca</email><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Program in Genetics & Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada</aff><aff id="aff2"><label>2</label>Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada</aff><aff id="aff3"><label>3</label>Institute of Medical Science, University of Toronto, Toronto, ON M5S 1A8, Canada</aff><aff id="aff4"><label>4</label>Department of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada</aff><aff id="aff5"><label>5</label>Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, KY 40292, USA</aff><aff id="aff6"><label>6</label>Department of Psychological and Brain Sciences, University of Louisville, Louisville, KY 40292, USA</aff><aff id="aff7"><label>7</label>Department of Clinical Genetics, Sydney Children's Hospital, Randwick, NSW 2031, Australia</aff><aff id="aff8"><label>8</label>Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center and Children's Hospital, New Orleans, LA 70118, USA</aff><aff id="aff9"><label>9</label>The Center for Integrative Genomics, University of Lausanne, Genopode building, 1015 Lausanne, Switzerland</aff><aff id="aff10"><label>10</label>Section of Metabolic Diseases and Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA</aff><aff id="aff11"><label>11</label>Department of Medical Genetics, Väestöliitto, 00101 Helsinki, Finland</aff><aff id="aff12"><label>12</label>Department of Pediatrics, University of Nevada School of Medicine, Las Vegas 89102, NV, USA</aff><aff id="aff13"><label>13</label>Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH 43205, USA</aff><aff id="aff14"><label>14</label>Operative Unit of Medical Genetics, Hospital of Reggio Calabria Az. Ospedaliera Bianchi-Melacrino-Morelli, 89100 Reggio Calabria, Italy</aff><aff id="aff15"><label>15</label>Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan</aff><aff id="aff16"><label>16</label>Department of Pediatrics, Ibaraki Prefectural Handicapped Children's Center, Ibaraki 310-0845, Japan</aff><aff id="aff17"><label>17</label>Department of Medical Biology and Genetics, Medical School, Akdeniz University, 07070 Antalya, Turkey</aff><aff id="aff18"><label>18</label>Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle – Centre de Biologie et de Pathologie Est, 59 Boulevard Pinel, Bron 69677, France</aff><aff id="aff19"><label>19</label>Biologia Generale e Genetica Medica, Università di Pavia, and IRCCS Policlinico, San Matteo, 27100 Pavia, Italy</aff><aff id="aff20"><label>20</label>Academic Unit of Medical Genetics, The University of Manchester, St Mary's Hospital, Manchester M13 0JH, UK</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>lucy.osborne@utoronto.ca</email></corresp><fn id="fn1"><label>21</label><p>These authors contributed equally to this work</p></fn></author-notes><pub-date pub-type="ppub"><day>11</day><month>7</month><year>2008</year></pub-date><pub-date pub-type="epub"><day>03</day><month>7</month><year>2008</year></pub-date><volume>83</volume><issue>1</issue><fpage>106</fpage><lpage>111</lpage><history><date date-type="received"><day>16</day><month>4</month><year>2008</year></date><date date-type="rev-recd"><day>29</day><month>5</month><year>2008</year></date><date date-type="accepted"><day>2</day><month>6</month><year>2008</year></date></history><permissions><copyright-statement>© 2008 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2008</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder><license><license-p>This document may be redistributed and reused, subject to <ext-link ext-link-type="uri" xlink:href="http://www.elsevier.com/wps/find/authorsview.authors/supplementalterms1.0">certain conditions</ext-link>.</license-p></license></permissions><abstract><p>Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation. Here, we identify a locus for IS by high-resolution mapping of 7q11.23-q21.1 interstitial deletions in patients. The breakpoints delineate a 500 kb interval within the <italic>MAGI2</italic> gene (1.4 Mb in size) that is hemizygously disrupted in 15 of 16 participants with IS or childhood epilepsy, but remains intact in 11 of 12 participants with no seizure history. <italic>MAGI2</italic> encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the <italic>stargazer</italic> mouse.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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