Details of Disease

General Information of Disease (ID: DIS03XMZ)

Disease Name Developmental and epileptic encephalopathy, 52
Synonyms EIEE52; developmental and epileptic encephalopathy 52; DEE52; epileptic encephalopathy, early infantile, 52
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DIS03XMZ: Developmental and epileptic encephalopathy, 52
Disease Identifiers
MONDO ID
MONDO_0033361
UMLS CUI
C4479236
OMIM ID
617350
MedGen ID
1376462

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
SCN1B OTGD78J3 Strong Autosomal recessive [1]
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References

1 A functional null mutation of SCN1B in a patient with Dravet syndrome. J Neurosci. 2009 Aug 26;29(34):10764-78. doi: 10.1523/JNEUROSCI.2475-09.2009.