Malformations of Cortical Development and Epilepsy
Identifieur interne : 000487 ( Pmc/Corpus ); précédent : 000486; suivant : 000488Malformations of Cortical Development and Epilepsy
Auteurs : A. James Barkovich ; William B. Dobyns ; Renzo GuerriniSource :
- Cold Spring Harbor Perspectives in Medicine [ 2157-1422 ] ; 2015.
Abstract
Malformations of cortical development (MCDs) are an important cause of epilepsy and an extremely interesting group of disorders from the perspective of brain development and its perturbations. Many new MCDs have been described in recent years as a result of improvements in imaging, genetic testing, and understanding of the effects of mutations on the ability of their protein products to correctly function within the molecular pathways by which the brain functions. In this review, most of the major MCDs are reviewed from a clinical, embryological, and genetic perspective. The most recent literature regarding clinical diagnosis, mechanisms of development, and future paths of research are discussed.
Url:
DOI: 10.1101/cshperspect.a022392
PubMed: 25934463
PubMed Central: 4448581
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Malformations of Cortical Development and Epilepsy</title><author><name sortKey="Barkovich, A James" sort="Barkovich, A James" uniqKey="Barkovich A" first="A. James" last="Barkovich">A. James Barkovich</name><affiliation><nlm:aff id="af1">Department of Radiology and Biomedical Imaging, Neurology, Pediatrics, and Neurosurgery, University of California, San Francisco, San Francisco, California 94143-0628</nlm:aff></affiliation></author><author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name><affiliation><nlm:aff id="af2">Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington 98101</nlm:aff></affiliation></author><author><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><affiliation><nlm:aff id="af3">Pediatric Neurology Unit and Laboratories, Children’s Hospital A. Meyer, University of Florence, Florence 50139, Italy</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25934463</idno><idno type="pmc">4448581</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4448581</idno><idno type="RBID">PMC:4448581</idno><idno type="doi">10.1101/cshperspect.a022392</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000487</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000487</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Malformations of Cortical Development and Epilepsy</title><author><name sortKey="Barkovich, A James" sort="Barkovich, A James" uniqKey="Barkovich A" first="A. James" last="Barkovich">A. James Barkovich</name><affiliation><nlm:aff id="af1">Department of Radiology and Biomedical Imaging, Neurology, Pediatrics, and Neurosurgery, University of California, San Francisco, San Francisco, California 94143-0628</nlm:aff></affiliation></author><author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name><affiliation><nlm:aff id="af2">Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington 98101</nlm:aff></affiliation></author><author><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name><affiliation><nlm:aff id="af3">Pediatric Neurology Unit and Laboratories, Children’s Hospital A. Meyer, University of Florence, Florence 50139, Italy</nlm:aff></affiliation></author></analytic><series><title level="j">Cold Spring Harbor Perspectives in Medicine</title><idno type="eISSN">2157-1422</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Malformations of cortical development (MCDs) are an important cause of epilepsy and an extremely interesting group of disorders from the perspective of brain development and its perturbations. Many new MCDs have been described in recent years as a result of improvements in imaging, genetic testing, and understanding of the effects of mutations on the ability of their protein products to correctly function within the molecular pathways by which the brain functions. In this review, most of the major MCDs are reviewed from a clinical, embryological, and genetic perspective. The most recent literature regarding clinical diagnosis, mechanisms of development, and future paths of research are discussed.</p></div></front></TEI><pmc article-type="review-article"><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">Cold Spring Harb Perspect Med</journal-id><journal-id journal-id-type="iso-abbrev">Cold Spring Harb Perspect Med</journal-id><journal-id journal-id-type="publisher-id">cshperspectmed</journal-id><journal-id journal-id-type="hwp">cshperspectmed</journal-id><journal-title-group><journal-title>Cold Spring Harbor Perspectives in Medicine</journal-title></journal-title-group><issn pub-type="epub">2157-1422</issn><publisher><publisher-name>Cold Spring Harbor Laboratory Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">25934463</article-id><article-id pub-id-type="pmc">4448581</article-id><article-id pub-id-type="doi">10.1101/cshperspect.a022392</article-id><article-id pub-id-type="publisher-id">a022392</article-id><article-categories><subj-group subj-group-type="hwp-journal-coll"><subject>105</subject></subj-group><subj-group subj-group-type="heading"><subject>Perspectives</subject></subj-group></article-categories><title-group><article-title>Malformations of Cortical Development and Epilepsy</article-title><alt-title alt-title-type="left-running">A.J. Barkovich et al.</alt-title><alt-title alt-title-type="right-running">Malformations of Cortical Development and Epilepsy</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Barkovich</surname><given-names>A. James</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib><contrib contrib-type="author"><name><surname>Dobyns</surname><given-names>William B.</given-names></name><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Guerrini</surname><given-names>Renzo</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib></contrib-group><aff id="af1"><label>1</label>Department of Radiology and Biomedical Imaging, Neurology, Pediatrics, and Neurosurgery, University of California, San Francisco, San Francisco, California 94143-0628</aff><aff id="af2"><label>2</label>Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington 98101</aff><aff id="af3"><label>3</label>Pediatric Neurology Unit and Laboratories, Children’s Hospital A. Meyer, University of Florence, Florence 50139, Italy</aff><author-notes><corresp><italic>Correspondence:</italic><email>james.barkovich@ucsf.edu</email></corresp></author-notes><pub-date pub-type="ppub"><month>5</month><year>2015</year></pub-date><volume>5</volume><issue>5</issue><elocation-id>a022392</elocation-id><permissions><copyright-statement>Copyright © 2015 Cold Spring Harbor Laboratory Press; all rights reserved</copyright-statement><copyright-year>2015</copyright-year></permissions><self-uri content-type="pdf" xlink:type="simple" xlink:href="cshperspectmed-BEP-a022392.pdf"></self-uri><abstract><p>Malformations of cortical development (MCDs) are an important cause of epilepsy and an extremely interesting group of disorders from the perspective of brain development and its perturbations. Many new MCDs have been described in recent years as a result of improvements in imaging, genetic testing, and understanding of the effects of mutations on the ability of their protein products to correctly function within the molecular pathways by which the brain functions. In this review, most of the major MCDs are reviewed from a clinical, embryological, and genetic perspective. The most recent literature regarding clinical diagnosis, mechanisms of development, and future paths of research are discussed.</p></abstract><abstract abstract-type="precis"><p>The genetic, molecular, and cellular processes underlying malformations of cortical development—common causes of developmental delay and epilepsy—have become much clearer in recent years.</p></abstract><counts><page-count count="23"></page-count></counts></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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