Kielar and colleagues identified mutations in the microtubule-associated protein Eml1 in patients with severe cortical heterotopia. Using animal and cell models, the authors found that Eml1 inactivation alters spindle orientation in dividing neuronal progenitors during early corticogenesis, leading to their detachment from the ventricular zone, their accumulation in the intermediate zone and the subsequent development of subcortical heterotopia.
- Michel Kielar
- Françoise Phan Dinh Tuy
- Fiona Francis
