Details of Disease

General Information of Disease (ID: DIS10Z6D)

Disease Name Epilepsy, familial adult myoclonic, 1
Synonyms benign adult familial myoclonic epilepsy 1; epilepsy, familial ADULT myoclonic, 1; cortical myoclonic tremor with epilepsy, familial, 1; FAME1
Disease Hierarchy
DIS900JN: Epilepsy, familial adult myoclonic
DIS10Z6D: Epilepsy, familial adult myoclonic, 1
Disease Identifiers
MONDO ID
MONDO_0010985
MESH ID
C563399
UMLS CUI
C1832841
OMIM ID
601068
MedGen ID
371424

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
ADRA2B TTWM4TY Strong GermlineCausalMutation [1]
CNTN2 TT2Z1WB Strong GermlineCausalMutation [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CTNND2 OTYKE30Y Strong GermlineCausalMutation [3]
SAMD12 OTIFG9O6 Strong Autosomal dominant [4]
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References

1 The 2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy. Ann Neurol. 2014 Jan;75(1):77-87. doi: 10.1002/ana.24028. Epub 2014 Jan 2.
2 Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. Brain. 2013 Apr;136(Pt 4):1155-60. doi: 10.1093/brain/awt068. Epub 2013 Mar 21.
3 -Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy. Neurology. 2017 Dec 5;89(23):2341-2350. doi: 10.1212/WNL.0000000000004709. Epub 2017 Nov 10.
4 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.