Maria Chiara Baroni

1 Introduction The cyclin-dependent kinase (CDK) family is a group of serine/threonine protein kinases involved in different cellular processes, such as transcription, regulation of the cell cycle and differentiation [1]. Among the 21 members described to date, some have causally been linked to specific clinical conditions, mostly characterized by syndromic intellectual disability (ID) [2], malformations of the central nervous system [3], microcephaly [4, 5], and cancer [6].

Epilepsy with eyelid myoclonias, originally depicted by Jeavons in 1977, is a reflex epilepsy characterized by jerking of the eyelids with or without absences precipitated by eye closure or by light (eyelid myoclonia, EM), eye closure-induced EEG paroxysms and photosensitivity. Childhood-onset, female predominance and a normal development are typical features, though a mild intellectual disability has been reported.