Details of Disease | DrugMAP

General Information of Disease (ID: DISK4S4C)

Disease Name	Epileptic encephalopathy, infantile or early childhood, 1
Synonyms	IECEE1; developmental and epileptic encephalopathy 91; epileptic encephalopathy, infantile or early childhood, 1
Disease Hierarchy	DIS5DO49: Epileptic encephalopathy, infantile or early childhood DISK4S4C: Epileptic encephalopathy, infantile or early childhood, 1
Disease Identifiers	MONDO ID MONDO_0020630 UMLS CUI C4540199 OMIM ID 617711 MedGen ID 1626137

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PPP3CA	TTA4LDE	Strong	Autosomal dominant	[1]
PPP3CA	TTA4LDE	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PPP3CA	OT58PUEN	Strong	Autosomal dominant	[1]
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References

1	Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve. BMC Med Genomics. 2014 Sep 26;7:56. doi: 10.1186/1755-8794-7-56.
2	Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. Hum Mol Genet. 2018 Apr 15;27(8):1421-1433. doi: 10.1093/hmg/ddy052.