Phenotypes associated with the disease juvenile myoclonic epilepsy (OMIM:254770, an entry in Online Mendelian Inheritance in Man):
- Bilateral tonic-clonic seizure (HP:0002069, a Human Phenotype Ontology term): A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. Evidence: PCS. Frequency: 13/23. (PMID:33969125;PMID:15258581)
- EEG with generalized polyspikes (HP:0012001, a Human Phenotype Ontology term): EEG with repetitive generalized sharp transient waves of a duration less than 80 msec. Evidence: TAS. (OMIM:254770)
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. (PMID:33969125)
- Status epilepticus (HP:0002133, a Human Phenotype Ontology term): Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. Evidence: TAS. (OMIM:254770)
- Generalized non-motor (absence) seizure (HP:0002121, a Human Phenotype Ontology term): A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. Evidence: PCS. Frequency: 14/23. (PMID:33969125;PMID:15258581)
- Morning myoclonic jerks (HP:0007000, a Human Phenotype Ontology term). Evidence: PCS. (PMID:33969125)
- Myoclonic seizure (HP:0032794, a Human Phenotype Ontology term): A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Evidence: PCS. Frequency: 10/13. (PMID:15258581)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:15258581)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/13. (PMID:15258581)