Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of generalized epilepsy of presumed genetic origin (previously known an idiopathic generalized epilepsy), representing 5-10% of all epilepsy cases. This disorder typically first manifests itself between the ages of 12 and 18 with sudden brief involuntary single or multiple episodes of muscle(s) contractions caused by an abnormal excessive or synchronous neuronal activity in the brain. These events typically occur either early in the morning or upon sleep deprivation.
Additional clinical presentations include seizures with either a motor (tonic-clonic seizure) or nonmotor (absence seizure) generalized onset. Genetic studies have demonstrated several loci for JME and identified mutations in 4 genes.
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