title: Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
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: LIS1 (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.
authors.affiliation: Department of Human Genetics and Department of Neurology, University of Chicago, IL 60637, USA.
authors.forename: R J
authors.initials: RJ
authors.lastname: Leventer
authors.forename: D T
authors.initials: DT
authors.lastname: Pilz
authors.forename: N
authors.initials: N
authors.lastname: Matsumoto
authors.forename: D H
authors.initials: DH
authors.lastname: Ledbetter
authors.forename: W B
authors.initials: WB
authors.lastname: Dobyns
mesh_terms: D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D001927:Brain Diseases / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D002540:Cerebral Cortex / Q000002:abnormalities*; D002886:Chromosomes, Human, Pair 17; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D005817:Genetic Counseling; D006801:Humans; D008869:Microtubule-Associated Proteins / Q000235:genetics; D009154:Mutation; D009479:Neuropeptides / Q000235:genetics; D011296:Prenatal Diagnosis; D014960:X Chromosome
chemical_list: C000714328:DCX protein, human; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human