1. Familial cerebral cavernomas due to a KRIT1 mutation presenting with epilepsy
- Author
-
Angus Kennedy, Sanjeev Rajakulendran, and Sreeman Andole
- Subjects
Adult ,Genetic Markers ,Male ,Pathology ,medicine.medical_specialty ,Hemangioma, Cavernous, Central Nervous System ,Neurology ,Article ,Hemangioma ,Epilepsy ,Proto-Oncogene Proteins ,medicine ,Humans ,Genetic Testing ,Family history ,Cerebrum ,KRIT1 Protein ,Genetic testing ,Sequence Deletion ,medicine.diagnostic_test ,Base Sequence ,business.industry ,Brain Neoplasms ,Magnetic resonance imaging ,General Medicine ,medicine.disease ,Magnetic Resonance Imaging ,medicine.anatomical_structure ,Mutation (genetic algorithm) ,business ,Microtubule-Associated Proteins - 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.
- Published
- 2012