Myoclonic Epilepsy, Juvenile 1 malady
Categories: Genetic diseases, Neuronal diseases, Rare diseases, Blood diseases, Metabolic diseases
Aliases & Descriptions for Myoclonic Epilepsy, Juvenile 1:
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Blood diseases
OMIM:51 Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy (EIG; see 600669) affecting up to 26% of... (254770) more...
MalaCards based summary: Myoclonic Epilepsy, Juvenile 1, also known as myoclonic epilepsy, juvenile, susceptibility to, 1, is related to epilepsy, generalized, with febrile seizures plus, type 5 and epilepsy, and has symptoms including generalized tonic-clonic seizures, absence seizures and status epilepticus. An important gene associated with Myoclonic Epilepsy, Juvenile 1 is EFHC1 (EF-Hand Domain Containing 1). Related mouse phenotype muscle.
UniProtKB/Swiss-Prot:69 Juvenile myoclonic epilepsy 1: 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.
NIH Rare Diseases:47 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 exact cause of juvenile myoclonic epilepsy remains unknown, but genetics likely plays a role. Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good. Last updated: 3/16/2016
Human phenotypes related to Myoclonic Epilepsy, Juvenile 1:63
UMLS symptoms related to Myoclonic Epilepsy, Juvenile 1:myoclonus, seizures, epileptic aura, seizures, tonic, myoclonus, eyelid, seizures, focal, convulsion in childhood
UniProtKB/Swiss-Prot genetic disease variations for Myoclonic Epilepsy, Juvenile 1:69
Clinvar genetic disease variations for Myoclonic Epilepsy, Juvenile 1:5
Search GEO for disease gene expression data for Myoclonic Epilepsy, Juvenile 1.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet