Research progress on epilepsy with myoclonic absence

Abstract

Epilepsy with myoclonic absence (EMA) is a rare childhood-onset generalized epilepsy syndrome characterized by myoclonic absence seizures. First discovered by Tassinari et al. in 1969, EMA has been extensively studied by researchers from all over the world. This review synthesizes recent studies on EMA, covering its discovery history, classification, epidemiology, pathophysiology, etiology, clinical manifestations, diagnosis and differential diagnosis, treatment, prognosis and evolution, and especially discusses the etiology and pathophysiology mechanism, to help clinicians understand this relatively rare epilepsy syndrome, reduce the rate of missed diagnosis and misdiagnosis, and effectively guide treatment to alleviate the long-term cognitive impairment in affected individuals.