Abstract 64: Novel and Known Genes Elucidated in Cerebral Cavernous Malformation Through Comparative Transcriptomic Analysis of Multiple Model Species and Human Microdissected Lesional Endothelial Cells

Cerebral cavernous malformations (CCMs) are vascular brain lesions predisposing 0.5% of the population to a lifetime risk of hemorrhagic stroke and seizures. The disease is associated to a mutation in one of the three CCM genes ( CCM1, CCM2 and CCM3 ). CCM pathogenesis has been shown to be endothelial autonomous, linked to angiogenic, adhesion, and inflammatory processes. Using RNA-Seq, we profiled the transcriptomes of lesional endothelial...