Article
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males.
Epilepsia - 1 Jan 2006
Masruha Marcelo R, Caboclo Luis O S F, Carrete Henrique, Cendes Iscia L, Rodrigues Murilo G, Garzon Eliana, Yacubian Elza M T, Sakamoto Américo C, Sheen Volney, Harney Megan, Neal Jason, Hill R Sean, Bodell Adria, Walsh Christopher, Vilanova Luiz C P
Abstract excerpt
PURPOSE: Familial periventricular heterotopia (PH) represents a disorder of neuronal migration resulting in multiple gray-matter nodules along the lateral ventricular walls. Prior studies have shown that mutations in the filamin A (FLNA) gene can cause PH through an X-linked dominant pattern. Heterozygotic female patients usually remain asymptomatic until the second or third decade of life, when they may have...
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