Details of Disease | DrugMAP

General Information of Disease (ID: DISF2TMI)

Disease Name	Developmental and epileptic encephalopathy 31B
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DISF2TMI: Developmental and epileptic encephalopathy 31B
Disease Identifiers	MONDO ID MONDO_0957248 UMLS CUI C5830459 OMIM ID 620352 MedGen ID 1841095

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
DNM1	OTI8X2WQ	Strong	Autosomal recessive	[1]
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References

1	Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state. J Med Genet. 2022 Jun;59(6):549-553. doi: 10.1136/jmedgenet-2021-107769. Epub 2021 Jun 25.