• J. Neurol. Neurosurg. Psychiatr. · Apr 2009

    Case Reports

    Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects.

    • M C Y de Wit, J M Kros, D J J Halley, I F M de Coo, R Verdijk, B C Jacobs, and G M S Mancini.
    • Department of Neurology, Erasmus MC, Rotterdam, The Netherlands.
    • J. Neurol. Neurosurg. Psychiatr. 2009 Apr 1; 80 (4): 426-8.

    AbstractFilamin 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 bilateral periventricular heterotopia and vascular abnormalities. Postmortally, the diagnosis of a filamin A mutation was confirmed. Recognition during life may prevent cardiovascular problems and provide possibilities for genetic counselling.

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