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

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

Article DOI: 10.3791/53570-v • 08:22 min • December 1st, 2017
December 1st, 2017 •
*1, *2,3,15, 2,3,4, 5,6,7, 2,3,8, 1, 2,3, 2,3, 2,3,8, 9, 10, 10, 11, 10, 9,12, 2,3, 13, 1,14, 2,3, 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
* These authors contributed equally

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Resumo
Automatic Translation

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.

Tags

Array-CGH Whole-exome Sequencing In Utero Electroporation Rodents Causative Genes Brain Malformations Candidate Genes Neurobiology Molecular Pathways Brain Development Pathologies Diagnostic Tools C6orf70 Gene Periventricular Nodular Heterotopia Abnormal Neuronal Migration E15 Pregnant Rat Anesthesia Ophthalmic Ointment Abdominal Incision Uterine Horn Normal Saline Solution
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