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Updated: May 21, 2026

Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy
Published on: September 20, 2024
Familial cerebral cavernomas due to a KRIT1 mutation presenting with epilepsy
Sanjeev Rajakulendran1, Sreeman Andole, Angus Kennedy
1Department of Neurology, Chelsea and Westminster Hospital, Barnet Hospital, Barnet, UK.
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.
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