Familial cerebral cavernomas due to a KRIT1 mutation presenting with epilepsy. (24th March 2011)

• Record Type: Journal Article
• Authors: Rajakulendran, Sanjeev; Andole, Sreeman; Kennedy, Angus
• Is Part Of: BMJ case reports. Volume 2011
• Publication Date: 2011-03-24
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr.01.2011.3784
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : The authors present the case of a 25-year-old individual who presented acutely following a generalised tonic-clonic seizure. Brain MRI of the individual demonstrated the classical appearance of multiple cerebral cavernous haemangiomas (cavernomas). There was an autosomal dominant family history. Genetic testing identified a truncating mutation in the KRIT1 gene in the individual and confirmed the diagnosis of familial cerebral cavernomas as the cause of epilepsy in the family.