Details of Disease | DrugMAP

General Information of Disease (ID: DISBVQ7G)

Disease Name	Developmental and epileptic encephalopathy 102
Synonyms	DEE102; developmental and epileptic encephalopathy 102
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DISBVQ7G: Developmental and epileptic encephalopathy 102
Disease Identifiers	MONDO ID MONDO_0030881 UMLS CUI C5676991 OMIM ID 619881 MedGen ID 1812769

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC38A3	DTKWJH3	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
SLC38A3	OTCHH25G	Strong	Autosomal recessive	[1]
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References

1	Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2022 Apr 29;145(3):909-924. doi: 10.1093/brain/awab369.