Details of Disease | DrugMAP

General Information of Disease (ID: DISK65YI)

Disease Name	Epilepsy, familial adult myoclonic, 6
Synonyms	epilepsy, FAMILIAL ADULT myoclonic, 6; FAME6; cortical myoclonic tremor with epilepsy, Familial, 6; benign Adult Familial myoclonic epilepsy 6
Disease Hierarchy	DIS900JN: Epilepsy, familial adult myoclonic DISK65YI: Epilepsy, familial adult myoclonic, 6
Disease Identifiers	MONDO ID MONDO_0054846 UMLS CUI C4748079 OMIM ID 618074 MedGen ID 1648448

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
TNRC6A	OT493IOM	Limited	Unknown	[1]
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References

1	Expansions?of?intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5.