Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19) (q11.1–11.2;p13.3)

Abstract excerpt

Periventricular nodular heterotopia (PNH) is a rare neuronal migration disorder in which immature neurons fail to undergo a directed migration from the ventricular and subventricular zones to the cerebral cortex. Classic PNH occurs predominantly in females and is associated with periods of epilepsy and near-normal intelligence. One gene associated with PNH was mapped to chromosome Xq28. PNH with learning...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cerebrospinal fluid and hydrocephalus
• Share to Fetal and Pediatric Neurological Disorders
• Share to Spinal Dysraphism and Malformations