Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance

Abstract excerpt

Wide comprehension of genetic features of Cerebral Cavernous Malformations (CCM) represents the starting point to better manage patients and risk rating in their relatives. Causative mutations spectrum is constantly growing. KRIT1, CCM2 and PDCD10 are the three loci to date linked to familial CCM development although germline mutations were also detected in patients affected by sporadic forms. In this context,...

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