Journal article

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Valerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, Richard J Leventer, Fabienne Schaller, Elena Parrini, Agathe A Deparis, Francoise Watrin, Emmanuelle Buhler, Francesca Novara, Stefano Lise, Alistair T Pagnamenta, Usha Kini, Jenny C Taylor, Orsetta Zuffardi, Alfonso Represa, David Antony Keays, Renzo Guerrini, Antonio Falace, Carlos Cardoso

Journal of Visualized Experiments | JOURNAL OF VISUALIZED EXPERIMENTS | Published : 2017


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. To overcome this problem, an experimental strategy enabling the identification of novel causative genes for MCD was developed and validated. This st..

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Awarded by Seven Framework Programme of the EU, DESIRE project

Awarded by Fondation Jerome Lejeune

Awarded by Region Provence Alpes Cote d'Azur

Awarded by FWF grants

Funding Acknowledgements

We thank Dr. G. McGillivray, Pr. J. Clayton-Smith, Pr. W.B. Dobyns, Pr. P. Striano, Pr. I.E. Scheffer, Pr. S.P. Roberston and Pr. S.F. Berkovic for providing MCD patients. We thank Dr. F. Michel and D. Mei for technical advices and help. This work was supported by funding from the Seven Framework Programme of the EU, DESIRE project, contract number: Health-F2-602531-2013, (to V.C., R.G., A.R., A. F. and C.C.), INSERM (to A.R. and C.C.), Fondation Jerome Lejeune (R13083AA to A.F, E.P.P and C.C) and Region Provence Alpes Cote d'Azur (APO2014 - DEMOTIC to C.C. and A.A.D). D.A.K is an EMBO Young Investigator and is supported by FWF grants (I914 and P24367).