| HPO |
HP:0003623 |
Neonatal onset |
"Onset of signs or symptoms of disease within the first 28 days of life." [HPO:probinson] |
— |
HP:0003674 |
| HPO |
HP:0001270 |
Motor delay |
"A type of Developmental delay characterized by a delay in acquiring motor skills." [HPO:probinson] |
— |
HP:0012758 |
| HPO |
HP:0002411 |
Myokymia |
"Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle." [PMID:21501741] |
Myokymia is characterized electrophysiologically by rhythmic or semi-rhythmic bursts of a single motor unit discharging several times a second at a rate of 3-8 Hz. These myokymic discharges are nonsynchronous in different muscles or even in the same muscle, with intervals of 100-200 milliseconds separating individual bursts. The spontaneous discharges are not initiated by voluntary movement, although they may increase with such activity. |
HP:0100022 |
| HPO |
HP:0002266 |
Focal clonic seizure |
"A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive." [ORCID:0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064] |
The movement involves sustained rhythmic jerking, this may involve a limb, half the face or one side of the body, and may spread according to a Jacksonian march: The jerking may spread to involve parts of the body according to their representation on the motor cortex (according to the homunculus). |
HP:0011153, HP:0020221 |
| HPO |
HP:0002373 |
Febrile seizure (within the age range of 3 months to 6 years) |
"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." [HPO:probinson, PMID:10353950, PMID:19125841, PMID:30078767, PMID:6779259] |
Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made. |
HP:0032894 |
| HPO |
HP:0000006 |
Autosomal dominant inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
— |
HP:0000005 |
| HPO |
HP:0001263 |
Global developmental delay |
"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [DDD:hvfirth, HPO:sdoelken] |
Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. |
HP:0012758 |
| HPO |
HP:0001425 |
Heterogeneous |
— |
— |
HP:0000005 |
| HPO |
HP:0002069 |
Bilateral tonic-clonic seizure |
"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." [HPO:pnrobinson, PMID:28276060] |
A tonic-clonic seizure may be generalised from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. |
HP:0001250 |
| HPO |
HP:0002169 |
Clonus |
"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." [HPO:probinson] |
Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal. |
HP:0001347, HP:0004305 |
| HPO |
HP:0008936 |
Muscular hypotonia of the trunk |
"Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators] |
— |
HP:0001252 |
| HPO |
HP:0045084 |
Limb myoclonus |
— |
Limb myoclonus was noted in Early myoclonic encephalopathy. See PMID:27789573 |
HP:0001336 |
| HPO |
HP:0010818 |
Generalized tonic seizure |
"A generalized tonic seizure is a type of generalized motor seizure characterised 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." [HPO:jalbers, HPO:probinson, PMID:11580774, PMID:28276060, PMID:28276064] |
Characterized by a sudden increase in muscle tone whereby the body, arms, or legs make sudden stiffening movements and consciousness is usually preserved. Tonic seizures can occur during sleep. Tonic seizures usually affect both sides of the body, and cause a fall if the affected person was standing when the seizure started. |
HP:0032677, HP:0032792 |
| HPO |
HP:0032556 |
Circumoral cyanosis |
"Persistent blue color of the skin that surrounds the mouth." [PMID:2797223] |
Circumoral cyanosis may be a sign of peripheral or of central cyanosis. |
HP:0034031 |
| HPO |
HP:0002266 |
Focal clonic seizure |
"A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive." [ORCID:0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064] |
The movement involves sustained rhythmic jerking, this may involve a limb, half the face or one side of the body, and may spread according to a Jacksonian march: The jerking may spread to involve parts of the body according to their representation on the motor cortex (according to the homunculus). |
HP:0011153, HP:0020221 |
| HPO |
HP:0002020 |
Gastroesophageal reflux |
"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter." [HPO:probinson] |
— |
HP:0025270 |
| HPO |
HP:0031535 |
Increased theta frequency activity in EEG |
"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." [] |
— |
HP:0025373 |
| HPO |
HP:0002133 |
Status epilepticus |
"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." [HPO:jalbers, ORCID:0000-0002-1735-8178, PMID:26336950, PMID:28276060] |
In 2015 the ILAE Task Force on Classification of Status Epilepticus concluded that the evidence to define time points 1 and 2 in humans was incomplete. For tonic-clonic status epilepticus t1 is defined as 5 minutes and t2 as 30 minutes. For focal status epilepticus with impaired consciousness t1 is defined as 10 minutes and t2 over 60 minutes. For absence status epilepticus t1 is defined as 10-15 minutes and t2 is unknown. |
HP:0001250 |
| HPO |
HP:0011167 |
Focal tonic seizure |
"A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes." [HPO:jalbers, PMID:11580774, PMID:28276060, PMID:28276064] |
The abnormal movements of dystonia resulting from co-contraction of agonist and antagonist muscles differentiates these from tonic seizures, see focal dystonic seizure. |
HP:0011153, HP:0032792 |
| HPO |
HP:0011154 |
Focal autonomic seizure |
"An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature." [HPO:jalbers, PMID:28276060, PMID:28276064] |
Focal seizures with a subjective or objectively documented alteration of autonomic nervous system function at onset, involving but not limited to, cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor and thermoregulatory functions. Focal autonomic seizure is not a child of Epileptic aura (HP:0033348) as many Focal autonomic seizures are not purely subjective (required to be called an aura). |
HP:0032679 |
| HPO |
HP:0002104 |
Apnea |
"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." [HPO:curators] |
— |
HP:0002793 |
| HPO |
HP:0011188 |
Focal EEG discharges with secondary generalization |
"Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp." [HPO:jalbers] |
— |
HP:0011185 |
| HPO |
HP:0011468 |
Facial tics |
"Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face." [DDD:cwright] |
— |
HP:0005324 |
| HPO |
HP:0011171 |
Simple febrile seizure |
"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." [HPO:jalbers, PMID:19125841, PMID:6779259, PMID:972656] |
Fever may not be detected before the seizure, but it must be present at least in the immediate postacute period. In most cases these seizures are of a generalized tonic-clonic semiology. |
HP:0002373 |
| HPO |
HP:0045084 |
Limb myoclonus |
— |
Limb myoclonus was noted in Early myoclonic encephalopathy. See PMID:27789573 |
HP:0001336 |