Details of Disease | DrugMAP

General Information of Disease (ID: DISWOQQ0)

Disease Name	Developmental and epileptic encephalopathy 99
Synonyms	DEE99
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DISWOQQ0: Developmental and epileptic encephalopathy 99
Disease Identifiers	MONDO ID MONDO_0030473 UMLS CUI C5562018 OMIM ID 619606 MedGen ID 1794228

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
ATP1A3	OTM8EG6H	Strong	Autosomal dominant	[1]
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References

1	Ionic leakage underlies a gain-of-function effect of dominant disease mutations affecting diverse P-type ATPases. Nat Genet. 2014 Feb;46(2):144-51. doi: 10.1038/ng.2850. Epub 2013 Dec 15.