Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epilepsy syndrome that typically starts around puberty. Seizures are characterized by bilateral irregular myoclonic jerks without loss of consciousness that usually occur shortly after awakening and may be precipitated by sleep deprivation. Patients may also have generalized tonic-clonic seizures and, less commonly, absence seizures. Most patients have lifelong seizures, although with appropriate treatment, seizure control occurs in up to 80% of cases. Cognitive dysfunction, behavioral disturbances, and psychiatric disorders may also be present.
Heterozygous variants in intestinal cell kinase (ICK) can cause a form of JME.
ICD10CM: G40.B09 – Juvenile myoclonic epilepsy, not intractable, without status epilepticus