The research work by Drs Alexandre Croquelois and Michel Kielar, from the Laboratory of Developmental Brain Disorders of the Department of Clinical Neuroscience was published on 25 May 2014 in Nature Neuroscience.
The study covered developmental disorders of the cerebral cortex caused by abnormal neuronal proliferation. When this happens, clusters of normally differentiated neurons form in places where they should not be during foetal development and the construction of the brain.
These disorders can lead to motor or mental disabilities and epilepsy. Dr Croquelois work began eight years ago when he discovered by chance a mouse that spontaneously developed the condition in the colony at the laboratory of the Department of Fundamental Neurosciences at the University of Lausanne, directed by Professor Egbert Welker, with whom he worked closely on the project.
Also collaborating with several Paris groups, the research team was able to identify the “eml1” gene responsible for the defect in the mouse. The authors of the study then examined children with cortical malformations whose cause is unknown. They found several cases in humans from two families with the same gene mutation.
These results have broadened our knowledge of genes and the mechanisms involved in disorders caused by cortical development. They could eventually be used to diagnose these pathologies during the prenatal stage and, potentially in a more distant future, to correct some of them with gene therapy.