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

Authors: Sanjeev, Rajakulendran; Sreeman, Andole; Angus, Kennedy;

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

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.

Keywords

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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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
2
Average
Average
Average
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