Article
Novel CCM1 (KRIT1) Mutation Detection in Brazilian Familial Cerebral Cavernous Malformation: Different Genetic Variants in Inflammation, Oxidative Stress, and Drug Metabolism Genes Affect Disease Aggressiveness.
World neurosurgery - 1 Jun 2020
Fontes-Dantas Fabrícia Lima, da Fontoura Galvão Gustavo, Veloso da Silva Elielson, Alves-Leon Soniza, Cecília da Silva Rêgo Cláudia, Garcia Diogo Gomes, Marques Suelen Adriani, Blanco Martinez Ana Maria, Reis da Silva Marcello, Marcondes de Souza Jorge
Abstract excerpt
BACKGROUND: Cerebral cavernous malformations (CCMs) are vascular capillary anomalies with a dysfunctional endothelial adherent junction profile, depicting hemorrhage and epilepsy as the main clinical features. With the advent of an increasingly personalized medicine, better comprehension of genetic mechanisms behind CCM represents an important key in the management of the patients and risk rating in relatives. In...
Topics
- Adult
- Anticonvulsants
- Brazil
- DNA Glycosylases
- DNA-(Apurinic or Apyrimidinic Site) Lyase
- Female
- Frameshift Mutation
- Genotype
- Hemangioma, Cavernous, Central Nervous System