KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants.

Abstract excerpt

Cerebral cavernous malformations (CCMs) are vascular malformations that may result in headaches, seizures, focal neurological deficits, and hemorrhage. CCMs occur sporadically (80%) or in familial form (20%), with autosomal dominant inheritance. Among the three CCM-related genes, mutations in KRIT1 account for 53-65% of familial cases and more than 100 different mutations have been identified so far. In the...

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Female
• Hemangioma, Cavernous, Central Nervous System
• Heterozygote
• Humans
• Infant
• KRIT1 Protein
• Male