Details of Disease

General Information of Disease (ID: DISQIF7J)

• Disease Name: Developmental and epileptic encephalopathy, 26
• Synonyms: epileptic encephalopathy, early infantile, 26; early infantile epileptic encephalopathy caused by mutation in KCNB1; KCNB1 early infantile epileptic encephalopathy; DEE26; early infantile epileptic encephalopathy 26; developmental and epileptic encephalopathy 26; epileptic encephalopathy, early infantile, type 26; EIEE26
• Definition: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene.
• Disease Hierarchy:
  DISISEI2: Undetermined early-onset epileptic encephalopathy
  DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy
  DISZOCA3: Epileptic encephalopathy
  DISQIF7J: Developmental and epileptic encephalopathy, 26
• Disease Identifiers:
  MONDO ID: MONDO_0014477
  UMLS CUI: C4015119
  OMIM ID: 616056
  MedGen ID: 863556

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
KCNB1	TT5OEKU	moderate	Genetic Variation	[1]
KCNB1	TT5OEKU	Definitive	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNB1	OTLCU4FR	Definitive	Autosomal dominant	[2]

References

• [1] The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.Genet Med. 2017 Sep;19(9):1040-1048. doi: 10.1038/gim.2016.224. Epub 2017 Mar 2.
• [2] De novo KCNB1 mutations in epileptic encephalopathy. Ann Neurol. 2014 Oct;76(4):529-540. doi: 10.1002/ana.24263. Epub 2014 Sep 19.