Details of Disease | DrugMAP

General Information of Disease (ID: DISPN5AK)

Disease Name	Developmental and epileptic encephalopathy, 69
Synonyms	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69; DEE69; developmental and epileptic encephalopathy 69; epileptic encephalopathy, early infantile, 69; EIEE69
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DISPN5AK: Developmental and epileptic encephalopathy, 69
Disease Identifiers	MONDO ID MONDO_0032657 UMLS CUI C4748988 OMIM ID 618285 MedGen ID 1648381

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
CACNA1E	TTYRP0M	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
CACNA1E	DTP9XH7	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CACNA1E	OTHATMLU	Strong	Autosomal dominant	[1]
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References

1	De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18.