- Focal manual automatism seizure (HP:0032900): A type of focal automatism seizure characterized by manual automatisms at onset. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- Focal pedal automatism seizure (HP:0032901): A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- CSF lymphocytic pleiocytosis (HP:0200149): An increased lymphocyte count in the cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- Tinnitus (HP:0000360): Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:569)
- Coma (HP:0001259): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:569)
- Cerebellar atrophy (HP:0001272): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:569)
- Hemiplegia (HP:0002301): Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:569)
- Aphasia (HP:0002381): An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:569)
- Language impairment (HP:0002463): Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:569)
- Facial paralysis (HP:0007209): Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:569)
- Gaze-evoked horizontal nystagmus (HP:0007979): Horizontal nystagmus made apparent by looking to the right or to the left. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:569)
- Distal upper limb muscle weakness (HP:0008959): Reduced strength of the distal musculature of the arms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:569)
- Vertical nystagmus (HP:0010544): Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:569)
- Impaired temperature sensation (HP:0010829): A reduced ability to discriminate between different temperatures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:569)
- Spontaneous pain sensation (HP:0010833): Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:569)
- EEG with generalized sharp slow waves (HP:0011199): EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:569)
- Seesaw nystagmus (HP:0012044): Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:569)
- Nuchal rigidity (HP:0031179): Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:569)
- Decreased vigilance (HP:0032044): A decrease in the ability to maintain sustained attention is characterized by reduced alertness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:569)
- Alien limb phenomenon (HP:0032506): Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:569)
- 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. Frequency: Very rare (HP:0040284). (ORPHA:569)
- 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:569)
- First dorsal interossei muscle weakness (HP:0003392). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:569)
- EEG with focal sharp waves (HP:0011196): EEG with focal sharp transient waves of a duration between 80 and 200 msec. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:569)
- Amaurosis fugax (HP:0100576): A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:569)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:569)
- Migraine with aura (HP:0002077): A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:569)
- Abnormal speech pattern (HP:0002167): An abnormality in the sound (volume) or cadence (rate) of speech. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:569)
- EEG abnormality (HP:0002353): Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:569)
- Focal motor seizure (HP:0011153): A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:569)
- Focal sensory seizure (HP:0011157): A focal sensory seizure is a type seizure beginning with a subjective sensation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:569)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- Scotoma (HP:0000575): A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- Diplopia (HP:0000651): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- Confusion (HP:0001289): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- Tongue fasciculations (HP:0001308): Fasciculations or fibrillation affecting the tongue muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- 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: Frequent (HP:0040282). (ORPHA:569)
- Cerebral edema (HP:0002181): Abnormal accumulation of fluid in the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- Increased CSF protein concentration (HP:0002922): Increased concentration of protein in the cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- Involuntary movements (HP:0004305): Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- Progressive gait ataxia (HP:0007240): A type of gait ataxia displaying progression of clinical severity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- Dissociated sensory loss (HP:0010835): A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- Complex febrile seizure (HP:0011172): A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- 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:569)
- CSF pleocytosis (HP:0012229): An increased white blood cell count in the cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- Metamorphopsia (HP:0012508): A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
- Photopsia (HP:0030786): Perceived flashes of light. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:569)
These phenotypes are associated with the disease Familial or sporadic hemiplegic migraine (ORPHA:569).