Epilepsy, Myoclonic Juvenile (EJM)

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MedlinePlus Genetics: ⁴² Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, stress, or alcohol consumption.

MalaCards based summary: Epilepsy, Myoclonic Juvenile, also known as juvenile myoclonic epilepsy, is related to myoclonic epilepsy, juvenile 4 and epilepsy, idiopathic generalized, and has symptoms including myoclonus and absence seizures. An important gene associated with Epilepsy, Myoclonic Juvenile is EFHC1 (EF-Hand Domain Containing 1), and among its related pathways/superpathways are Sweet Taste Signaling and Transmission across Chemical Synapses. Affiliated tissues include brain, eye and temporal lobe, and related phenotypes are eeg with polyspike wave complexes and morning myoclonic jerks

GARD: ¹⁹ Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of Juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered by lack of sleep, extreme fatigue, stress, or alcohol consumption. Onset typically occurs around adolesence in otherwise healthy children. The causes of Juvenile myoclonic epilepsy are very complex and not completely understood. Genetic changes in one of several genes, including the GABRA1 and the EFHC1 genes, can cause or increase susceptibility to this condition.

Orphanet: ⁵⁸ Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).

OMIM®: ⁵⁷ Juvenile myoclonic epilepsy (EJM, JME) is a subtype of idiopathic generalized epilepsy (EIG; see 600669), affecting up to 26% of all individuals with EIG. Individuals with EJM have afebrile seizures only, with onset in adolescence of myoclonic jerks. Myoclonic jerks usually occur in the morning (Janz and Durner, 1997). (254770) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: ⁷³ A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.

Disease Ontology: ¹¹ A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years.

Wikipedia: ⁷⁵ Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a common form of genetic generalized... more...

Clinical features from OMIM®:

Search NIH Clinical Center for Epilepsy, Myoclonic Juvenile