A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain MalformationsValerio Conti *1, Aurelie Carabalona *2,3,15, Emilie Pallesi-Pocachard 2,3,4, Richard J. Leventer 5,6,7, Fabienne Schaller 2,3,8, Elena Parrini 1, Agathe A. Deparis 2,3, Françoise Watrin 2,3, Emmanuelle Buhler 2,3,8, Francesca Novara 9, Stefano Lise 10, Alistair T. Pagnamenta 10, Usha Kini 11, Jenny C. Taylor 10, Orsetta Zuffardi 9,12, Alfonso Represa 2,3, David Antony Keays 13, Renzo Guerrini 1,14, Antonio Falace 2,3, Carlos Cardoso 2,3
1University of Florence, 2INSERM INMED, 3Aix-Marseille University, 4Plateforme Biologie Moléculaire et Cellulaire INMED, 5Royal Children's Hospital, 6Murdoch Children's Research Institute, 7University of Melbourne, 8Plateforme postgenomique INMED, 9University of Pavia, 10Wellcome Trust Centre for Human Genetics, 11Oxford Radcliffe NHS Trust, 12IRCCS Casimiro Mondino Foundation, 13Research Institute of Molecular Pathology, 14IRCCS Stella Maris, 15Columbia University
Periventricular nodular heterotopia (PNH) is the most common form of malformation of cortical development (MCD) in adulthood but its genetic basis remains unknown in most sporadic cases. We have recently developed a strategy to identify novel candidate genes for MCDs and to directly confirm their causative role in vivo.
