developmental and epileptic encephalopathy, 6

Go to external page http://purl.obolibrary.org/obo/MONDO_0100079


Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene. [ https://omim.org/entry/607208 ]

This is just here as a test because I lose it

Term information

comment
  • EEEI6 is the OMIM placeholder for SCN1A-related severe epilepsies. The vast majority of SCN1A-related severe epilepsies, including Dravet syndrome, are not early infantile by definition, thereby creating a oxymoronic conflict within the ontology. We recommend describing the phenotype, ie Dravet syndrome, or the genetic eitology, ie SCN1A to represent the concept in question. This is distinct from MONDO:0011794 Dravet syndrome. See https://github.com/monarch-initiative/mondo/issues/745
created by
  • https://orcid.org/0000-0001-5208-3432
definition
  • Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene.
exactMatch
  • https://omim.org/entry/607208
has exact synonym
  • developmental and epileptic encephalopathy, 6
  • epileptic encephalopathy, early infantile, 6
  • EIEE6
  • DEE6
has related synonym
  • Dravet syndrome
id
  • MONDO:0100079
seeAlso
  • https://github.com/monarch-initiative/mondo/issues/4521