has characteristic has characteristic has material basis in germline mutation in disease has feature EFHC1 Myoclonus Juvenile onset adolescence-adult electroclinical syndrome movement disorder juvenile myoclonic epilepsy https://github.com/monarch-initiative/mondo/issues/8602 https://github.com/monarch-initiative/mondo/issues/9097 https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy https://www.epilepsydiagnosis.org/syndrome/jme-overview.html https://www.malacards.org/card/epilepsy_myoclonic_juvenile EJM OMIM:254770 ICD10CM:G40.B DOID:4890 MedDRA:10071082 petit mal, impulsive MESH:D020190 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). myoclonic epilepsy, juvenile, 1 OMIMPS:254770 MEDGEN:78738 icd11.foundation:1014397110 GARD:0006808 Orphanet:307 JME epilepsy, myoclonic juvenile ICD9:345.10 NCIT:C84796 UMLS:C0270853 myoclonic epilepsy, juvenile juvenile myoclonus epilepsy MONDO:0009696 SCTID:6204001 OMIM:606904 myoclonic epilepsy, juvenile, susceptibility to, 1 familial partial epilepsy obsolete adolescent/adult-onset epilepsy syndrome myoclonic epilepsy variable-age onset idiopathic generalized epilepsy syndrome