The role of intestinal cell kinase in interneurons, a protein mutated in Juvenile Myoclonic Epilepsy

Intestinal cell kinase (ICK) is a serine/threonine kinase for which homozygous mutations have been associated with two neolethals syndrome (ECO & SRP) characterized by anomalies involving the endocrine, cerebral, and skeletal systems. More recently, novel heterozygous mutations (Fig.1) have been associated with juvenile myoclonic epilepsy (JME). Using ex-vivo electroporation, it has been demonstrated that pathogenic mutations affect the physiology of neural progenitor (mitosis, cell cycle & apoptosis) and radial migration in mouse neocortex. Considering epilepsy as an imbalance between excitation and inhibition, it appeared us interesting to complete the study with the effect of JME mutations on inhibitory side and so to determine the role of ICK in interneurons (INs).