- Generalized-onset seizure (HP:0002197): A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:307)
- EEG with polyspike wave complexes (HP:0002392): The presence of complexes of repetitive spikes and waves in EEG. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:307)
- Morning myoclonic jerks (HP:0007000). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:307)
- Abnormality of the mouth (HP:0000153): An abnormality of the mouth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:307)
- Abnormality of eye movement (HP:0000496): An abnormality in voluntary or involuntary eye movements or their control. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:307)
- Generalized non-motor (absence) seizure (HP:0002121): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:307)
- Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373): A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:307)
- Photosensitive tonic-clonic seizure (HP:0007207): Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:307)
- Aggressive behavior (HP:0000718): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:307)
- Status epilepticus (HP:0002133): 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. Frequency: Very rare (HP:0040284). (ORPHA:307)
These phenotypes are associated with the disease Juvenile myoclonic epilepsy (ORPHA:307).
The following phenotypes are NOT associated with this disease:
- Intellectual disability (HP:0001249): 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: TAS. (ORPHA:307)