Lissencephaly and subcortical band heterotopia: Molecular basis and diagnosis

Richard J. Leventer, Daniela T. Pilz, Naomichi Matsumoto, David H. Ledbetter, William B. Dobyns

Research output: Contribution to journalReview articlepeer-review

19 Scopus citations

Abstract

Magnetic resonance imaging is now used routinely in the evaluation of developmental and neurological disorders and provides exquisite images of the living human brain. Consequently, it is evident that cortical malformations are more common than previously thought. Among the most severe is classical lissencephaly, in which the cortex lacks the complex folding that characterizes the normal human brain. Lissencephaly includes agyria and pachygyria, and merges with subcortical band heterotopia. Current molecular genetic techniques combined with the identification of affected patients have enabled the detection of two of the genes responsible: LlS1 (PAFAH1B1) on chromosome 17 and DCX (doublecortin) on the X chromosome. This review highlights the discovery of these genes and discusses the advances made in understanding the molecular basis of cortical development and improvements in diagnosis and genetic counseling.

Original languageEnglish (US)
Pages (from-to)277-284
Number of pages8
JournalMolecular Medicine Today
Volume6
Issue number7
DOIs
StatePublished - Jul 1 2000
Externally publishedYes

Fingerprint Dive into the research topics of 'Lissencephaly and subcortical band heterotopia: Molecular basis and diagnosis'. Together they form a unique fingerprint.

Cite this