Details of Disease | DrugMAP

General Information of Disease (ID: DISSIV2G)

Disease Name	Developmental and epileptic encephalopathy 89
Synonyms	developmental and epileptic encephalopathy 89; DEE89
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DISSIV2G: Developmental and epileptic encephalopathy 89
Disease Identifiers	MONDO ID MONDO_0030856 UMLS CUI C5436853 OMIM ID 619124 MedGen ID 1761611

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GAD1	TTKGEP3	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GAD1	OT52Z39J	Strong	Autosomal recessive	[1]
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References

1	Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. Brain. 2020 May 1;143(5):1447-1461. doi: 10.1093/brain/awaa085.