Periventricular Heterotopia (PH)

Molecular genetic analysis of Filamin functions in cerebral cortical development
2011 Seed Grant
Yuanyi Feng, M.D., Ph.D.
Department of Neurology
Northwestern University

Periventricular Heterotopia (PH) caused by mutations of the Filamin gene is a congenital brain developmental disease that affects both brain structures and functions. A mouse model of PH by inactivating Filamin is described in this proposal to study the pathogenesis of PH. Preliminary analyses suggested that losing Filamin resulted in altered neural stem cell functions which led to abnormal production of neurons in the diseased brain. Further studies are proposed to analyze the time, location and cause of abnormal neuron generations in the mouse model to learn how neural stem cells are regulated by Filamin, and how to control the behaviors of neural stem cells.

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