Human Brain Malformations and Their Lessons for Neuronal Migration
Top Cited Papers
- 1 March 2001
- journal article
- review article
- Published by Annual Reviews in Annual Review of Neuroscience
- Vol. 24 (1) , 1041-1070
- https://doi.org/10.1146/annurev.neuro.24.1.1041
Abstract
▪ Abstract The developmental steps required to build a brain have been recognized as a distinctive sequence since the turn of the twentieth century. As marking tools for experimental embryology emerged, the cellular events of cortical histogenesis have been intensively scrutinized. On this rich backdrop, molecular genetics provides the opportunity to play out the molecular programs that orchestrate these cellular events. Genetic studies of human brain malformation have proven a surprising source for finding the molecules that regulate CNS neuronal migration. These studies also serve to relate the significance of genes first identified in murine species to the more complex human brain. The known genetic repertoire that is special to neuronal migration in brain has rapidly expanded over the past five years, making this an appropriate time to take stock of the emerging picture. We do this from the perspective of human brain malformation syndromes, noting both what is now known of their genetic bases and what...Keywords
This publication has 143 references indexed in Scilit:
- Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopiaEuropean Journal of Human Genetics, 2001
- A Fifth Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 1q31American Journal of Human Genetics, 2000
- A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34American Journal of Human Genetics, 2000
- Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of MCPH4 to Chromosome 15American Journal of Human Genetics, 1999
- The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2European Journal of Human Genetics, 1999
- Development of Commissural Connections in the Hippocampus of Reeler Mice: Evidence of an Inhibitory Influence of Cajal–Retzius CellsExperimental Neurology, 1999
- Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pterAmerican Journal of Human Genetics, 1998
- A protein related to extracellular matrix proteins deleted in the mouse mutant reelerNature, 1995
- Familial periventricular nodular heterotopiaBrain & Development, 1993
- Mice deficient for Rb are nonviable and show defects in neurogenesis and haematopoiesisNature, 1992