Article
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Human molecular genetics - 1 Dec 1998
Pilz D T, Matsumoto N, Minnerath S, Mills P, Gleeson J G, Allen K M, Walsh C A, Barkovich A J, Dobyns W B, Ledbetter D H, Ross M E
Abstract excerpt
Classical lissencephaly (LIS) is a neuronal migration disorder resulting in brain malformation, epilepsy and mental retardation. Deletions or mutations of LIS1 on 17p13.3 and mutations in XLIS ( DCX ) on Xq22.3-q23 produce LIS. Direct DNA sequencing of LIS1 and XLIS was performed in 25 children with sporadic LIS and no deletion of LIS1 by fluorescence in situ hybridization. Mutations of LIS1 were found by...
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