Phenotypic Spectrum of SETD1B-Related Disorder: Myoclonic Absence Seizures and Concurrent Intellectual Disability - Insights from Two Cases

In 1969, Tassinari et al. initially described an epilepsy syndrome characterized by myoclonic absences as the main seizure type. This syndrome was later classified as part of the cryptogenic or symptomatic generalized epilepsies by the International Classification of Epilepsies and Epileptic Syndromes (ILAE, 1989) and subsequently as a non-motor generalized seizure (ILAE, 2017) [1]. Myoclonic absences are characterized by absences accompanied by myoclonic jerky movements and a tonic component leading to progressive elevation of the arms.

Source: Seizure: European Journal of Epilepsy - November 28, 2023 Category: Neurology Authors: Ravindu Tiwari, Lakshminarayanpuram Gopal Viswanathan, Ravindranadh Mundlamuri Chowdary, Raghavendra Kenchaiah, Ajay Asranna, Sanjib Sinha Source Type: research