Details of Disease

General Information of Disease (ID: DISQBXTS)

• Disease Name: Developmental and epileptic encephalopathy, 24
• Synonyms: HCN1 early infantile epileptic encephalopathy; early infantile epileptic encephalopathy caused by mutation in HCN1; epileptic encephalopathy, early infantile, type 24; developmental and epileptic encephalopathy 24; DEE24; EIEE24; epileptic encephalopathy, early infantile, 24
• Definition: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene.
• Disease Hierarchy:
  DISISEI2: Undetermined early-onset epileptic encephalopathy
  DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy
  DISZOCA3: Epileptic encephalopathy
  DISQBXTS: Developmental and epileptic encephalopathy, 24
• Disease Identifiers:
  MONDO ID: MONDO_0014377
  UMLS CUI: C4014531
  OMIM ID: 615871
  MedGen ID: 862968

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HCN1	TTNB6UQ	Limited	Genetic Variation	[1]
HCN1	TTNB6UQ	Definitive	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HCN1	OTVOWKQ7	Definitive	Autosomal dominant	[2]

References

• [1] HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.
• [2] De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nat Genet. 2014 Jun;46(6):640-5. doi: 10.1038/ng.2952. Epub 2014 Apr 20.