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Items: 11

1.

Seizure

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. [from HPO]

MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
2.

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. [from HPO]

MedGen UID:
3232
Concept ID:
C0009952
Disease or Syndrome
3.

Epilepsy

A disease of the brain characterized by an enduring predisposition to generate epileptic seizures. [from SNOMEDCT_US]

MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
4.

Endocrine-cerebro-osteodysplasia syndrome

Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. [from ORDO]

MedGen UID:
390740
Concept ID:
C2675227
Disease or Syndrome
5.

Epilepsy syndrome

EPILEPTIC SEIZURES that are of similar type and age of onset and have other similar features (e.g., clinical course, EEG findings, genetic association and neuropathology). [from MeSH]

MedGen UID:
1371141
Concept ID:
C4505072
Disease or Syndrome
6.

Focal epilepsy

A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations. [from SNOMEDCT_US]

MedGen UID:
41836
Concept ID:
C0014547
Disease or Syndrome
7.

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. [from HPO]

MedGen UID:
101773
Concept ID:
C0149886
Disease or Syndrome
8.

Complex febrile seizure

A febrile seizure that has any of the following features [from HPO]

MedGen UID:
155493
Concept ID:
C0751057
Disease or Syndrome
9.

Focal emotional seizure with laughing

Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'. [from HPO]

MedGen UID:
78734
Concept ID:
C0270820
Disease or Syndrome
10.

Self-limited epilepsy with autonomic seizures

A rare genetic neurological disorder characterised by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalised convulsion. Autonomic status epilepticus may be the only clinical event in some cases. [from SNOMEDCT_US]

MedGen UID:
581520
Concept ID:
C0393676
Disease or Syndrome
11.

Developmental and epileptic encephalopathy, 73

Developmental and epileptic encephalopathy-73 (DEE73) is a neurologic disorder characterized by the onset of refractory seizures in the first months of life. Affected individuals meet almost no developmental milestones: they have hypotonia and are unable to walk, speak, or feed properly. They have poor overall growth with small head circumference and dysmorphic facial features. Additional manifestations include cortical visual impairment with roving eye movements and variable hearing loss (summary by Edvardson et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

MedGen UID:
1681654
Concept ID:
C5193065
Disease or Syndrome
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