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BMJ Case Rep. 2011 Mar 24;2011. pii: bcr0120113784. doi: 10.1136/bcr.01.2011.3784.

Familial cerebral cavernomas due to a KRIT1 mutation presenting with epilepsy.

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1
Department 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.

PMID:
22699465
PMCID:
PMC3070345
DOI:
10.1136/bcr.01.2011.3784
[Indexed for MEDLINE]
Free PMC Article
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