Details of Disease | DrugMAP

General Information of Disease (ID: DIS20XB0)

Disease Name	Epileptic encephalopathy, infantile or early childhood, 2
Synonyms	IECEE2; epileptic encephalopathy, infantile or early childhood, 2; developmental and epileptic encephalopathy 92
Disease Hierarchy	DIS5DO49: Epileptic encephalopathy, infantile or early childhood DIS20XB0: Epileptic encephalopathy, infantile or early childhood, 2
Disease Identifiers	MONDO ID MONDO_0020631 UMLS CUI C4693362 OMIM ID 617829 MedGen ID 1638319

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
GABRB2	TTZA1NY	Strong	Genetic Variation	[1]
GABRB2	TTZA1NY	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GABRB2	OTAOZIGX	Definitive	Autosomal dominant	[2]
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References

1	A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.J Med Genet. 2017 Mar;54(3):202-211. doi: 10.1136/jmedgenet-2016-104083. Epub 2016 Oct 27.
2	A novel variant in GABRB2 associated with intellectual disability and epilepsy. Am J Med Genet A. 2014 Nov;164A(11):2914-21. doi: 10.1002/ajmg.a.36714. Epub 2014 Aug 13.