Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature

Eyelid myoclonia with absences (EMA), also known as Jeavons syndrome (JS) is a childhood onset epileptic manifestations involving clinical triad of absence seizures eyelid (EM), photosensitivity (PS), and or electroencephalogram (EEG) paroxysms induced by eye closure. Although genetic contribution to this likely some alterations have been defined in several cases, the genes responsible for not identified. In review, patients diagnosed EMA (or EMA-like phenotype) diagnosis are summarized. Based on this, four could be associated (SYNGAP1, KIA02022/NEXMIF, RORB, CHD2). Moreover, although there enough evidence yet consider them candidate EMA, three more present different disease (SLC2A1, NAA10, KCNB1). Therefore, possible relationship these discussed review.