Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: A causative mutation? (original) (raw)

24 mRNA decay 25 Haploinsufficiency 26 Two-hit model 27 Cerebral cavernous malformations (CCMs; OMIM 116860) are vascular anomalies mostly located in the 28 central nervous system (CNS) and occasionally within the skin and retina. 29 Main clinical manifestations are seizure, hemorrhage, recurrent headaches, focal neurological deficits and 30 epileptic attacks. The CCMs can occur as sporadic or autosomal dominant conditions, although with incomplete 31 penetrance and variable clinical expression. 32 Familial CCMs were associated with causative mutations in the CCM1 [K-Rev interaction trapped 1 (KRIT1)], 33 CCM2 (MGC4607) and CCM3 (PDCD10) genes.