EJM
MCID: EPL198
MIFTS: 62
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Epilepsy, Myoclonic Juvenile (EJM)
Categories:
Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Epilepsy, Myoclonic Juvenile:
Name: Epilepsy, Myoclonic Juvenile
56
Characteristics:Orphanet epidemiological data:58
juvenile myoclonic epilepsy
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial; Age of onset: Adolescent; Age of death: normal life expectancy; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
mean age at onset is 10.4 years seizures tend to occur upon awakening seizures precipitated by fatigue or alcohol approximately one-third of patients become seizure-free with age HPO:31
epilepsy, myoclonic juvenile:
Inheritance autosomal dominant inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases
ICD10:
33
Orphanet: 58
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Genetics Home Reference :
25
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 epilepsy, idiopathic generalized and early myoclonic encephalopathy, 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 Transmission across Chemical Synapses and GABAergic synapse. The drugs Dopamine and Apomorphine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and temporal lobe, and related phenotypes are eeg with polyspike wave complexes and morning myoclonic jerks Disease Ontology : 12 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. NIH Rare Diseases : 52 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. Mutations in one of several genes , including the GABRA1 and the EFHC1 genes, can cause or increase susceptibility to this condition. Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good. OMIM : 56 Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy (EIG; see 600669) affecting up to 26% of all individuals with EIG. Individuals with JME have afebrile seizures only, with onset in adolescence of myoclonic jerks. Myoclonic jerks occur usually in the morning (Janz and Durner, 1997). (254770) KEGG : 36 Juvenile myoclonic epilepsy (JME/EJM) is the most common form of idiopathic generalized epilepsy. JME appears around puberty and is characterized by seizures with bilateral and irregular myoclonic jerks, predominantly in the arms. No disturbance of consciousness is noticeable. Response to appropriate drugs is good. UniProtKB/Swiss-Prot : 73 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. Wikipedia : 74 Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of generalized... more... |
Human phenotypes related to Epilepsy, Myoclonic Juvenile:58 31 (show all 16)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:254770UMLS symptoms related to Epilepsy, Myoclonic Juvenile:myoclonus, absence seizures MGI Mouse Phenotypes related to Epilepsy, Myoclonic Juvenile:45
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Drugs for Epilepsy, Myoclonic Juvenile (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
Cochrane evidence based reviews: myoclonic epilepsy, juvenile |
MalaCards organs/tissues related to Epilepsy, Myoclonic Juvenile:40
Brain,
Eye,
Temporal Lobe,
Cortex,
Thalamus,
Testes,
Heart
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Articles related to Epilepsy, Myoclonic Juvenile:(show top 50) (show all 1144)
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ClinVar genetic disease variations for Epilepsy, Myoclonic Juvenile:6 (show top 50) (show all 335)
UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Myoclonic Juvenile:73 (show all 17)
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Pathways related to Epilepsy, Myoclonic Juvenile according to GeneCards Suite gene sharing:
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Cellular components related to Epilepsy, Myoclonic Juvenile according to GeneCards Suite gene sharing:(show all 12)
Biological processes related to Epilepsy, Myoclonic Juvenile according to GeneCards Suite gene sharing:(show all 19)
Molecular functions related to Epilepsy, Myoclonic Juvenile according to GeneCards Suite gene sharing:(show all 11)
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