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

► We describe a new mutation in CCM2 gene in an Italian family with multiple CCMs. ► The mutation cosegregated with the CCM disease phenotype within the family ► Real-time RT-PCR shows a reduction of CCM2 mRNA levels probably through a mechanism such as nonsense-mRNA decay ► This mutation may be involved in CCM pathogenesis.