Auteurs
Leventer RJ - Cardoso C - Ledbetter DH - Dobyns WB
Journal
Neurology
Abstract
Classical lissencephaly is a disorder of neuroblast migration with most patients having mutations of either the LIS1 or DCX genes. Most patients with lissencephaly secondary to LIS1 mutations have a severe malformation consisting of generalized agyria and pachygyria. However, increasing experience suggests that the phenotypic spectrum is wider than previously thought.