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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:7641
Name:Myoclonic Epilepsy, Juvenile
Definition:A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323)
Alternative IDs:OMIM:254770|OMIM:604827|OMIM:608816|OMIM:611136|OMIM:611364
ParentIDs:MESH:D004831
TreeNumbers:C10.228.140.490.250.670
Synonyms:Adolescent Myoclonic Epilepsies |Adolescent Myoclonic Epilepsy |ECA4, INCLUDED |EIG13 |EIG7 |EJM |EJM1, INCLUDED |EJM2, INCLUDED |EJM3 |EJM4 |EJM5, |EJM5, INCLUDED |Epilepsies, Adolescent Myoclonic |Epilepsies, Juvenile Myoclonic |Epilepsy, Adolescent Myoclonic |EPILEP
Slim Mappings:Nervous system disease
Reference: MedGen: D020190
MeSH: D020190
OMIM: 254770;

Genes: EFHC1; EJM2; GABRA1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0002069Bilateral tonic-clonic seizure
4 HP:0012001EEG with generalized polyspikes
5 HP:0002121Generalized non-motor (absence) seizure
6 HP:0007000Morning myoclonic jerks
7 HP:0002133Status epilepticus
Disease Causing ClinVar Variants