Details of Disease

General Information of Disease (ID: DISHGG0A)

• Disease Name: Developmental and epileptic encephalopathy, 6
• Synonyms: Dravet syndrome; DEE6; developmental and epileptic encephalopathy, 6; epileptic encephalopathy, early infantile, 6; EIEE6
• Definition: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene.|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
• Disease Hierarchy:
  DISZOCA3: Epileptic encephalopathy
  DISHGG0A: Developmental and epileptic encephalopathy, 6

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SCN1A	DTN0M1I	Definitive	Autosomal dominant	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCN1A	OTJ9ZTYI	Definitive	Autosomal dominant	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.