Details of Disease | DrugMAP

General Information of Disease (ID: DISVPP9Z)

Disease Name	Developmental and epileptic encephalopathy, 31
Synonyms	developmental and epileptic encephalopathy 31; epileptic encephalopathy, early infantile, 31; DNM1 early infantile epileptic encephalopathy; EIEE31; DEE31; epileptic encephalopathy, early infantile, type 31; early infantile epileptic encephalopathy caused by mutation in DNM1
Definition	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene.
Disease Hierarchy	DISOTGO5: LennoxGastaut syndrome DISISEI2: Undetermined early-onset epileptic encephalopathy DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy DISZOCA3: Epileptic encephalopathy DISVPP9Z: Developmental and epileptic encephalopathy, 31
Disease Identifiers	MONDO ID MONDO_0014598 UMLS CUI C4225357 OMIM ID 616346 MedGen ID 894942

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
DNM1	TTE3JW9	Strong	CausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DNM1	OTI8X2WQ	Strong	Autosomal dominant	[2]
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References

1	DNM1 encephalopathy: A new disease of vesicle fission.Neurology. 2017 Jul 25;89(4):385-394. doi: 10.1212/WNL.0000000000004152. Epub 2017 Jun 30.
2	A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis. Science. 2007 Apr 27;316(5824):570-4. doi: 10.1126/science.1140621.