Details of Disease

General Information of Disease (ID: DISVT955)

Disease Name Epilepsy, progressive myoclonic, 12
Synonyms epilepsy, progressive myoclonic, 12; EPM12
Disease Hierarchy
DISAMCNS: Progressive myoclonus epilepsy
DISVT955: Epilepsy, progressive myoclonic, 12
Disease Identifiers
MONDO ID
MONDO_0030936
UMLS CUI
C5543069
OMIM ID
619191
MedGen ID
1778162

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
SLC7A6OS OT09YHAQ Limited Autosomal recessive [1]
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References

1 Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS. Ann Neurol. 2021 Feb;89(2):402-407. doi: 10.1002/ana.25941. Epub 2020 Nov 5.