developmental and epileptic encephalopathy, 6Go 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 ]
- 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
- Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene.
- developmental and epileptic encephalopathy, 6
- epileptic encephalopathy, early infantile, 6
- Dravet syndrome