Malformations of Cortical Development and Epilepsy
Identifieur interne : 007330 ( Ncbi/Merge ); précédent : 007329; suivant : 007331Malformations of Cortical Development and Epilepsy
Auteurs : A. James Barkovich [États-Unis] ; William B. Dobyns [États-Unis] ; Renzo Guerrini [Italie]Source :
- 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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PMC:4448581Le document en format XML
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<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>
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Department of Radiology and Biomedical Imaging, Neurology, Pediatrics, and Neurosurgery, University of California, San Francisco, San Francisco, California 94143-0628</aff>
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Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington 98101</aff>
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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>
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<pub-date pub-type="ppub"><month>5</month>
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<volume>5</volume>
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<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>
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<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>
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