Birth defects that involve the cerebral cortex - also known as malformations of cortical development (MCD) - are important causes of intellectual disability and account for 20-40% of drug-resistant epilepsy in childhood. High-resolution brain imaging has facilitated in vivo identification of a large group of MCD phenotypes. Despite the advances in brain imaging, genomic analysis and generation of animal models, a straightforward workflow to systematically prioritize candidate genes and to test functional effects of putative mutations is missing.
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations / Conti V, Carabalona A, Pallesi-Pocachard E, Leventer RJ, Schaller F, Parrini E, Deparis AA, Watrin F, Buhler E, Novara F, Lise S, Pagnamenta AT, Kini U, Taylor JC, Zuffardi O, Represa A, Keays DA, Guerrini R, Falace A, Cardoso C. - In: JOURNAL OF VISUALIZED EXPERIMENTS. - ISSN 1940-087X. - STAMPA. - (2017), pp. 1-130. [10.3791/53570]
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Guerrini R;FALACE, ANTONIO;
2017
Abstract
Birth defects that involve the cerebral cortex - also known as malformations of cortical development (MCD) - are important causes of intellectual disability and account for 20-40% of drug-resistant epilepsy in childhood. High-resolution brain imaging has facilitated in vivo identification of a large group of MCD phenotypes. Despite the advances in brain imaging, genomic analysis and generation of animal models, a straightforward workflow to systematically prioritize candidate genes and to test functional effects of putative mutations is missing.
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