Article
Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects.
Journal of neurology, neurosurgery, and psychiatry - 1 Apr 2009
de Wit M C Y, Kros J M, Halley D J J, de Coo I F M, Verdijk R, Jacobs B C, Mancini G M S
Abstract excerpt
Filamin A is an important gene involved in the development of the brain, heart, connective tissue and blood vessels. A case is presented illustrating the challenge in recognising patients with filamin A mutations. The patient, a 71-year-old woman, was known to have heart valve disease and bilateral periventricular nodular heterotopia when she died of a subarachnoid haemorrhage. Autopsy showed typical cerebral...
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