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

Molecular Interaction Atlas (MIA)
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]
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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]
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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.