Consensus on diagnosis and management of JME: From founder's observations to current trends

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

“…The EEG phenotype is consistent with generalized myoclonic epilepsy, and certainly not focal epilepsy. Finally, human JME is characterized by strong chronodependency, with myoclonic jerks and GTCS in the morning after awakening or during relaxation periods in the evening (37). Although generalized myoclonic epilepsy in RRs also shows a strong association with the sleep-wake cycle, myoclonic twitches and EEG discharges appeared predominantly in the relaxed state, at rest, or during the first stages of sleep, mirroring subtypes of JME (38).…”

Motor co-activation in siblings of patients with juvenile myoclonic epilepsy: an imaging endophenotype?

“…Juvenile myoclonic epilepsy is a common idiopathic epilepsy syndrome (Zifkin et al , 2005; Berg and Millichap, 2013; Delgado-Escueta et al , 2013), characterized by symmetric, myoclonic jerks, mostly affecting upper limbs, generalized tonic-clonic seizures and, more rarely, absence seizures (Janz, 1985; Kasteleijn-Nolst Trenite et al , 2013). A complex polygenetic aetiology is suspected in most cases (Delgado-Escueta et al , 2013) and clinical genetic studies support a high genetic predisposition: first-degree relatives have an increased risk for epilepsy with up to 6% affected, mostly with idiopathic generalized epilepsy syndromes (Janz et al , 1989; Vijai et al , 2003).…”

Clinical Presentations and Factors Responsible for Delays in Diagnosis of Juvenile Myoclonic Epilepsy among Sudanese Patients

“…Class I criteria encompasses (i) myoclonic jerks without loss of consciousness exclusively occurring on or up to two hours after awakening; (ii) EEG with normal background and typical ictal generalized high amplitude polyspikes and slow waves accompanying myoclonic jerks; (iii) normal intelligence; and (iv) age of onset between 10 and 25 years [11]. The Class II set of criteria included (i) myoclonic jerks predominantly occurring after awakening; (ii) myoclonic jerks facilitated by sleep deprivation and stress and provoked by visual stimuli or praxis or GTCSs preceded by myoclonic jerks; (iii) normal background on EEG and at least one occurrence of interictal generalized spike or polyspikes and waves, with some asymmetry allowed, with or without recording of myoclonic jerks; (iv) no mental retardation or deterioration; and (v) age at onset of 6-25 years [11]. Our aims were to identify the clinical features of JME among Sudanese patients presented to National Ribat University and M S Elmagzoub neurophysiology and neurological centres and to explain different factors that may affect its diagnosis.…”