Details of Disease

General Information of Disease (ID: DISMU5LP)

Disease Name Developmental and epileptic encephalopathy, 72
Synonyms developmental and epileptic encephalopathy 72; EIEE72; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72; epileptic encephalopathy, early infantile, 72; DEE72
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISMU5LP: Developmental and epileptic encephalopathy, 72
Disease Identifiers
MONDO ID
MONDO_0032710
UMLS CUI
C5193063
OMIM ID
618374
MedGen ID
1681879

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
NEUROD2 OTJMMX9K Strong Autosomal dominant [1]
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References

1 Regulation of thalamocortical patterning and synaptic maturation by NeuroD2. Neuron. 2006 Mar 2;49(5):683-95. doi: 10.1016/j.neuron.2006.01.031.