Details of Disease

General Information of Disease (ID: DISIYU5W)

Disease Name Epileptic encephalopathy, infantile or early childhood, 3
Synonyms epileptic encephalopathy, infantile or early childhood, 3; developmental and epileptic encephalopathy 93; IECEE3
Disease Hierarchy
DIS5DO49: Epileptic encephalopathy, infantile or early childhood
DISIYU5W: Epileptic encephalopathy, infantile or early childhood, 3
Disease Identifiers
MONDO ID
MONDO_0020632
UMLS CUI
C4693934
OMIM ID
618012
MedGen ID
1642888

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
ATP6V1A TTL2PXZ Strong Genetic Variation [1]
ATP6V1A TTL2PXZ Definitive Autosomal dominant [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATP6V1B2 OTNX2V4Z Strong Autosomal dominant [2]
ATP6V1A OTYZ2S9E Definitive Autosomal dominant [1]
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References

1 De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. Brain. 2018 Jun 1;141(6):1703-1718. doi: 10.1093/brain/awy092.
2 Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. Nat Genet. 2015 Jun;47(6):661-7. doi: 10.1038/ng.3282. Epub 2015 Apr 27.