Abstract
Several malformation syndromes caused by abnormal neuronal migration development have been recognized, and specific causative gene defects have been identified for some of them. Lissencephaly (LIS) and subcortical band heterotopia are disorders of neuronal migration and represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. Both LIS1 and DCX proteins are involved in neuronal migration through their interaction with microtubules. Periventricular nodular heterotopia (PNH) features the subset of neurons that line the walls of lateral ventricles after having failed to migrate completely into the cerebral cortex. FLNA mutations have been reported in all familial cases of X-linked PNH and in approximately 25% of sporadic cases. FLNA is an actin-binding protein involved in many fundamental processes, such as cell migration, coagulation, and angiogenesis.
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