Details of Disease | DrugMAP

General Information of Disease (ID: DISFFS50)

Disease Name	Developmental and epileptic encephalopathy, 41
Synonyms	developmental and epileptic encephalopathy 41; developmental and epileptic encephalopathy, 41; SLC1A2 early infantile epileptic encephalopathy; early infantile epileptic encephalopathy caused by mutation in SLC1A2; EIEE41; DEE41; epileptic encephalopathy, early infantile, 41; EIEE41; epileptic encephalopathy, early infantile, type 41; epileptic encephalopathy, early infantile, 41
Definition	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene.
Disease Hierarchy	DIS1YXVQ: Early myoclonic encephalopathy DISISEI2: Undetermined early-onset epileptic encephalopathy DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy DISZOCA3: Epileptic encephalopathy DISFFS50: Developmental and epileptic encephalopathy, 41
Disease Identifiers	MONDO ID MONDO_0014916 UMLS CUI C4310717 OMIM ID 617105 MedGen ID 934684

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
SLC1A2	TT2F078	Strong	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC1A2	DT0VAI5	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
SLC1A2	OTEP3QGN	Definitive	Autosomal dominant	[2]
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References

1	Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy. Neuropediatrics. 2018 Feb;49(1):59-62. doi: 10.1055/s-0037-1606370. Epub 2017 Sep 15.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.