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Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus

โœ Scribed by Volney L Sheen; Lina Basel-Vanagaite; Jean R Goodman; Ingrid E Scheffer; Adria Bodell; Vijay S Ganesh; Robert Ravenscroft; Robert S Hill; Timothy J Cherry; Yin Y Shugart; James Barkovich; Rachel Straussberg; Christopher A Walsh

Book ID
113498059
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
382 KB
Volume
26
Category
Article
ISSN
0387-7604

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## Abstract Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Truncating and missense mutations of the __FLNA__ gene have been identified in almost 100% of families and 26% of sporadic pat