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Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Id http://purl.obolibrary.org/obo/MONDO_0100135
http://purl.obolibrary.org/obo/MONDO_0100135
Preferred Name

Dravet syndrome
Definitions
Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A. This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745
Synonyms
myoclonic epilepsy, severe, of infancy
SME
DS
Dravet syndrome
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.

This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745
altLabel
myoclonic epilepsy, severe, of infancy
SME
DS
Dravet syndrome
label
Dravet syndrome
comment
This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745
prefLabel
Dravet syndrome
has_related_synonym
myoclonic epilepsy, severe, of infancy
SME
disease shares features of
created_by
prefixIRI
MONDO:0100135
seeAlso
textual definition
Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.
subClassOf
type
has_exact_synonym
DS
Dravet syndrome
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