| Titre : |
Genetic Causes of Intellectual Disability: The Genes Controlling Cortical Development |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Yoann SAILLOUR, Auteur ; Jamel CHELLY, Auteur |
| Année de publication : |
2016 |
| Importance : |
p.43-64 |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Brain cortex Cortical development Epilepsy Intellectual disability Malformations of cortical development (MCD) Neuronal migration disorders Tubulinopathies |
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
The cerebral cortex has a key role in cognitive and intellectual processes. Its development results from careful orchestrated developmental interactions, most of which are unknown. In recent years, substantial insights have been gained through the rapid evolution of imaging techniques, large-scale genomic sequencing approaches, and the delineation of genes and mutations underlying neurodevelopmental disorders, including malformations of cortical development (MCDs), which are increasingly recognized as causes of intellectual disability conditions and epilepsy. Combined with investigation into cellular and animal models, genetic studies have identified genes, complexes, and pathways that might disrupt each of the main stages of cell proliferation, neuronal migration, and late cortical organization and lead to MCDs. This review summarizes most of the major MCDs from genetic and neurodevelopmental perspectives and highlights how understanding key molecular pathways can also lead to development of strategies aimed at reversing disrupted cellular and biological processes. |
| En ligne : |
http://dx.doi.org/10.1016/B978-0-12-800109-7.00004-2 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 |
Genetic Causes of Intellectual Disability: The Genes Controlling Cortical Development [Texte imprimé et/ou numérique] / Yoann SAILLOUR, Auteur ; Jamel CHELLY, Auteur . - 2016 . - p.43-64. Langues : Anglais ( eng)
| Mots-clés : |
Brain cortex Cortical development Epilepsy Intellectual disability Malformations of cortical development (MCD) Neuronal migration disorders Tubulinopathies |
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
The cerebral cortex has a key role in cognitive and intellectual processes. Its development results from careful orchestrated developmental interactions, most of which are unknown. In recent years, substantial insights have been gained through the rapid evolution of imaging techniques, large-scale genomic sequencing approaches, and the delineation of genes and mutations underlying neurodevelopmental disorders, including malformations of cortical development (MCDs), which are increasingly recognized as causes of intellectual disability conditions and epilepsy. Combined with investigation into cellular and animal models, genetic studies have identified genes, complexes, and pathways that might disrupt each of the main stages of cell proliferation, neuronal migration, and late cortical organization and lead to MCDs. This review summarizes most of the major MCDs from genetic and neurodevelopmental perspectives and highlights how understanding key molecular pathways can also lead to development of strategies aimed at reversing disrupted cellular and biological processes. |
| En ligne : |
http://dx.doi.org/10.1016/B978-0-12-800109-7.00004-2 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 |
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Genetic Causes of Intellectual Disability: The Genes Controlling Cortical Development
