Journal article

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia

JW Fox, ED Lamperti, YZ Eksioglu, SE Hong, YY Feng, DA Graham, IE Scheffer, WB Dobyns, BA Hirsch, RA Radtke, SF Berkovic, PR Huttenlocher, CA Walsh

NEURON | CELL PRESS | Published : 1998

Abstract

Long-range, directed migration is particularly dramatic in the cerebral cortex, where postmitotic neurons generated deep in the brain migrate to form layers with distinct form and function. In the X-linked dominant human disorder periventricular heterotopia (PH), many neurons fail to migrate and persist as nodules lining the ventricular surface. Females with PH present with epilepsy and other signs, including patent ductus arteriosus and coagulopathy, while hemizygous males die embryonically. We have identified the PH gene as filamin 1 (FLN1), which encodes an actin-cross-linking phosphoprotein that transduces ligand-receptor binding into actin reorganization, and which is required for locom..

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