Clinical studies have reported that a significant proportion of patients with juvenile myoclonic epilepsy (JME) harbor mutations in the genes involved in primary cilia formation, like CILK1, EFHC1, and CDKL5, while reduced number of primary cilia was identified in surgically resected brain samples of focal cortical dysplasia (FCD) patients (220–225). The gene discussed is CDKL5; the disease is juvenile myoclonic epilepsy.