Myoclonic–astatic epilepsy of early childhood – clinical and EEG analysis of myoclonic–astatic seizures, and discussions on the nosology of the syndrome

Defining the phenotypic spectrum of SLC6A1 mutations

“…This has not been described in any of the S lc6a1 animal models or human SLC6A1 variant carriers. 19 The subjects with aBECTS presented an extreme activation of the epileptiform abnormalities during NREM sleep resembling an ESES pattern. Surprisingly, both subjects developed aBECTS as an evolution of an MAE-like phenotype.…”

Idiopathic generalized epilepsies

“…Myoclonic jerks may precede or combine with the atonic component (Oguni et al, 2001). Myoclonic-atonic status epilepticus typically affects one-third of the cases.…”

“…The positive myoclonias are related to a generalized polyspike ( Fig. Drop attacks are associated with diffuse EMG paucity indicating a true atonic origin (Oguni et al, 2001). Atonia is associated with the slow wave of a single or multiple spike-wave complex ( Fig.…”

Electroencephalogram of Age-Dependent Epileptic Encephalopathies in Infancy and Early Childhood

“…Myoclonic-atonic seizures are characterized by initial vocalization or grunt, caused by quick contracture of the diaphragm, followed by atonic head or body drop. The presence of the myoclonic-atonic sequence accounts for 10% of children with MAE; 50% have isolated myoclonic seizures and 30% have isolated atonic seizures [49]. Other seizure types present include absence seizures, clonic seizures, and generalized tonic-clonic seizures.…”