Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report.

This report reviews cases of familial cerebral cavernous malformations caused by abnormalities in the CCM2 gene. This mutation site mediates interactions with CCM1 and CCM3. The mutation occurs in the phosphotyrosine binding (PTB) site, which is considered functionally important to CCM2.