The frameshift Leu220Phefs*2 variant in KRIT1accounts for early acute bleeding in patients affected by cerebral cavernous malformation
- Resource Type
- Article
- Authors
- Buonagura, Autilia Tommasina; Somma, Teresa; Vitulli, Francesca; Vitiello, Giuseppina; Andolfo, Immacolata; Esposito, Felice; Russo, Roberta; Iolascon, Achille; Cappabianca, Paolo
- Source
- Interdisciplinary Neurosurgery; December 2021, Vol. 26 Issue: 1
- Subject
- Language
- ISSN
- 22147519
•Familiar cerebral cavernous malformation is caused by CCM gene mutation.•More than 300 mutations affecting the CCM genes have been described to date.•The diagnosis is clinical and neuroradiological.•Genetic testing and counseling play a key role in the management of CCM.