Details of Disease

General Information of Disease (ID: DISHPMHB)

Disease Name Developmental and epileptic encephalopathy, 85, with or without midline brain defects
Synonyms
developmental and epileptic encephalopathy 85, with or without midline brain defects, X-linked dominant; epileptic encephalopathy, early infantile, 85, with or without midline brain defects; DEE85, with or without midline brain defects; EIEE85
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISHPMHB: Developmental and epileptic encephalopathy, 85, with or without midline brain defects
Disease Identifiers
MONDO ID
MONDO_0026771
UMLS CUI
C5393312
OMIM ID
301044
MedGen ID
1708832

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SMC1A OT9ZMRK9 Strong X-linked [1]
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References

1 Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. Epilepsia. 2017 Apr;58(4):565-575. doi: 10.1111/epi.13669. Epub 2017 Feb 6.