Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Epileptic encephalopathy
Synonyms

Convulsive encephalopathy

Definitions

A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. Seizures alone without any underlying neurologic or medical illness can be the sole cause of encephalopathy. Patients with seizures as a cause or consequence of encephalopathy present with a wide variety of neurologic symptoms from mild reduction or alteration of consciousness to coma. Findings on neurologic exam are often nonfocal, nonspecific, and not predictive of the presence of seizures. Patients may or may not have subtle motor findings accompanying the presentation of encephalopathy. Signs range from very focal findings, such as nystagmus, eye flutter, blinking, and eye deviation to more widespread signs, such as myoclonus, tremulousness, and autonomic instability.

ID

http://purl.obolibrary.org/obo/HP_0200134

comment

Seizures alone without any underlying neurologic or medical illness can be the sole cause of encephalopathy. Patients with seizures as a cause or consequence of encephalopathy present with a wide variety of neurologic symptoms from mild reduction or alteration of consciousness to coma. Findings on neurologic exam are often nonfocal, nonspecific, and not predictive of the presence of seizures. Patients may or may not have subtle motor findings accompanying the presentation of encephalopathy. Signs range from very focal findings, such as nystagmus, eye flutter, blinking, and eye deviation to more widespread signs, such as myoclonus, tremulousness, and autonomic instability.

creation date

2013-06-11T04:02:30Z

creator

https://orcid.org/0000-0002-5316-1399

database_cross_reference

UMLS:C0543888

definition

A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.

has exact synonym

Convulsive encephalopathy

id

HP:0200134

label

Epileptic encephalopathy

notation

HP:0200134

prefLabel

Epileptic encephalopathy

subClassOf

http://purl.obolibrary.org/obo/MP_0013806

http://purl.obolibrary.org/obo/HP_0001298

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