- Focal clonic seizure (HP:0002266): A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1949)
- Focal-onset seizure (HP:0007359): A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1949)
- Focal tonic seizure (HP:0011167): A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1949)
- Focal EEG discharges with secondary generalization (HP:0011188): Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1949)
- Neonatal seizure (HP:0032807): A seizure occurring within the neonatal period (28 days beyond the full term date). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1949)
- Apnea (HP:0002104): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1949)
- Clonus (HP:0002169): A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1949)
- Generalized tonic seizure (HP:0010818): A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1949)
- 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:1949)
- Circumoral cyanosis (HP:0032556): Persistent blue color of the skin that surrounds the mouth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1949)
- Limb myoclonus (HP:0045084). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1949)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1949)
- Axial hypotonia (HP:0008936): Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1949)
- Simple febrile seizure (HP:0011171): A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1949)
- Facial tics (HP:0011468): Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1949)
- 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:1949)
- Increased theta frequency activity in EEG (HP:0031535): Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1949)
These phenotypes are associated with the disease Self-limited neonatal epilepsy (ORPHA:1949).