Familial cerebral cavernomas due to a KRIT1 mutation presenting with epilepsy.
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.
Department of Neurology, Chelsea and Westminster Hospital, Barnet Hospital, Barnet, UK.
Sanjeev
S
Rajakulendran
Sreeman
S
Andole
Angus
A
Kennedy
D000328:Adult; D001483:Base Sequence; D001932:Brain Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D054022:Cerebrum; D004827:Epilepsy / Q000209:etiology*; D005819:Genetic Markers; D005820:Genetic Testing; D020786:Hemangioma, Cavernous, Central Nervous System / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D000075927:KRIT1 Protein; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D017384:Sequence Deletion
D005819:Genetic Markers; D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins