- 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: Obligate (HP:0040280). (ORPHA:363558)
- Interictal EEG abnormality (HP:0025373): Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:363558)
- Refractory status epilepticus (HP:0032867): Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:363558)
- Seizure precipitated by febrile infection (HP:0032894): Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:363558)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- Focal impaired awareness seizure (HP:0002384): Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- Abnormal head movements (HP:0002457). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- Increased CSF protein concentration (HP:0002922): Increased concentration of protein in the cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- Functional motor deficit (HP:0004302). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- Focal T2 hyperintense basal ganglia lesion (HP:0007183): A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- Bilateral tonic-clonic seizure with focal onset (HP:0007334): A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- EEG with generalized slow activity (HP:0010845): Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- Abnormal circulating interleukin concentration (HP:0011117): The concentration of an interleukin (a class of cytokines) is outside the limits of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- Focal autonomic seizure (HP:0011154): An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- Facial tics (HP:0011468): Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- CSF pleocytosis (HP:0012229): An increased white blood cell count in the cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- Focal aware motor seizure (HP:0020217): A type of focal motor seizure in which awareness is retained throughout the seizure. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- EEG with frontal epileptiform discharges (HP:0033716): Focal epileptiform EEG discharges recorded in the frontal region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- EEG with temporal epileptiform discharges (HP:0033717): Focal epileptiform EEG discharges recorded in the temporal region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- Brain imaging abnormality (HP:0410263): An anomaly of metabolism or structure of the brain identified by imaging. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:363558)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363558)
- Confusion (HP:0001289): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363558)
- Global brain atrophy (HP:0002283): Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363558)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363558)
- Infectious encephalitis (HP:0002383): A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363558)
- Multifocal epileptiform discharges (HP:0010841): An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363558)
- EEG with spike-wave complexes (HP:0010850): Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363558)
- EEG with generalized epileptiform discharges (HP:0011198): EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363558)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363558)
- Abnormal thalamic MRI signal intensity (HP:0012696): A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363558)
- Cerebellar edema (HP:0030915): Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363558)
- Vegetative state (HP:0031358): The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363558)
- Myoclonic seizure (HP:0032794): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:363558)
- Abnormal basal ganglia MRI signal intensity (HP:0012751): A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:363558)
- Status epilepticus without prominent motor symptoms (HP:0031475): There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:363558)
These phenotypes are associated with the disease New-onset refractory status epilepticus (ORPHA:363558).