
pmid: 22699465
pmc: PMC3070345
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.
Adult, Genetic Markers, Male, Hemangioma, Cavernous, Central Nervous System, Epilepsy, Base Sequence, Brain Neoplasms, Magnetic Resonance Imaging, Proto-Oncogene Proteins, Humans, Genetic Testing, Cerebrum, KRIT1 Protein, Microtubule-Associated Proteins, Sequence Deletion
Adult, Genetic Markers, Male, Hemangioma, Cavernous, Central Nervous System, Epilepsy, Base Sequence, Brain Neoplasms, Magnetic Resonance Imaging, Proto-Oncogene Proteins, Humans, Genetic Testing, Cerebrum, KRIT1 Protein, Microtubule-Associated Proteins, Sequence Deletion
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