Details of Disease | DrugMAP

General Information of Disease (ID: DIS8VCPI)

Disease Name	Developmental and epileptic encephalopathy 97
Synonyms	DEE97
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DIS8VCPI: Developmental and epileptic encephalopathy 97
Disease Identifiers	MONDO ID MONDO_0030453 UMLS CUI C5561999 OMIM ID 619561 MedGen ID 1794209

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
CELF2	OTLJJ4VT	Strong	Autosomal dominant	[1]
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References

1	De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Hum Mutat. 2021 Jan;42(1):66-76. doi: 10.1002/humu.24130. Epub 2020 Nov 10.