Phenotypes associated with the disease Self-limited neonatal-infantile epilepsy (ORPHA:140927):
- Bilateral tonic-clonic seizure (HP:0002069): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:140927)
- 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: Frequent (HP:0040282). (ORPHA:140927)
- EEG with focal spikes (HP:0011193): EEG with focal sharp transient waves of a duration less than 80 msec. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:140927)
- Tonic seizure (HP:0032792): A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:140927)
- Neonatal seizure (HP:0032807): A seizure occurring within the neonatal period (28 days beyond the full term date). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:140927)
- Slurred speech (HP:0001350): Abnormal coordination of muscles involved in speech. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:140927)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:140927)
- 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: Occasional (HP:0040283). (ORPHA:140927)
- Episodic ataxia (HP:0002131): Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:140927)
- Postural instability (HP:0002172): A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:140927)
- 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:140927)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:140927)
- Staring gaze (HP:0025401): An abnormality in which the eyes are held permanently wide open. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:140927)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:140927)
- Continuous spike and waves during slow sleep (HP:0031491): Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:140927)