Details of Disease

General Information of Disease (ID: DISH4XWH)

Disease Name Developmental and epileptic encephalopathy, 76
Synonyms
Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination; EIEE76; epileptic encephalopathy, early infantile, 76; DEE76; developmental and epileptic encephalopathy 76; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISH4XWH: Developmental and epileptic encephalopathy, 76
Disease Identifiers
MONDO ID
MONDO_0032768
UMLS CUI
C5193113
OMIM ID
618468
MedGen ID
1673011

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACTL6B OTO7EJIS Definitive Autosomal recessive [1]
CYFIP2 OTCAY35T Definitive Autosomal dominant [2]
------------------------------------------------------------------------------------

References

1 Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy. Hum Genet. 2019 Feb;138(2):187-198. doi: 10.1007/s00439-019-01972-3. Epub 2019 Jan 17.
2 Novel West syndrome candidate genes in a Chinese cohort. CNS Neurosci Ther. 2018 Dec;24(12):1196-1206. doi: 10.1111/cns.12860. Epub 2018 Apr 17.