Details of Disease

General Information of Disease (ID: DISAZWJZ)

Disease Name Developmental and epileptic encephalopathy, 59
Synonyms EIEE59; infantile epileptic encephalopathy 59; DEE59; epileptic encephalopathy, early infantile, 59; developmental and epileptic encephalopathy 59
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISAZWJZ: Developmental and epileptic encephalopathy, 59
Disease Identifiers
MONDO ID
MONDO_0033368
UMLS CUI
C4693550
OMIM ID
617904
MedGen ID
1633749

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
GABBR2 OT67RIFY Strong Autosomal dominant [1]
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References

1 Redistribution of GABAB(1) protein and atypical GABAB responses in GABAB(2)-deficient mice. J Neurosci. 2004 Jul 7;24(27):6086-97. doi: 10.1523/JNEUROSCI.5635-03.2004.