Article
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Brain : a journal of neurology - 1 Jul 2006
Parrini E, Ramazzotti A, Dobyns W B, Mei D, Moro F, Veggiotti P, Marini C, Brilstra E H, Dalla Bernardina B, Goodwin L, Bodell A, Jones M C, Nangeroni M, Palmeri S, Said E, Sander J W, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh C A, Guerrini R
Abstract excerpt
Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles or just beneath. Human Filamin A gene (FLNA) mutations are associated with classical X-linked bilateral periventricular nodular heterotopia (PNH), featuring contiguous heterotopic nodules, mega cisterna magna, cardiovascular malformations and epilepsy. FLNA encodes an F-actin-binding cytoplasmic phosphoprotein and...
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