Details of Disease

General Information of Disease (ID: DISIMWOV)

• Disease Name: Benign adult familial myoclonic epilepsy
• Synonyms: FAME; familial adult myoclonic epilepsy; autosomal dominant cortical myoclonus and epilepsy; FCMTE; familial cortical myoclonic tremor and epilepsy; benign adult familial myoclonus epilepsy; BAFME; ADCME
• Definition: Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.
• Disease Hierarchy:
  DIS900JN: Epilepsy, familial adult myoclonic
  DISLWDHW: Adolescent-onset epilepsy syndrome
  DISIMWOV: Benign adult familial myoclonic epilepsy
• Disease Identifiers:
  MONDO ID: MONDO_0019448
  UMLS CUI: C4273988
  MedGen ID: 908684
  Orphanet ID: 86814
  SNOMED CT ID: 717225001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
YEATS2	OT2YNA12	Supportive	Autosomal dominant	[1]
ADRA2B	OTLJKGSE	Supportive	Autosomal dominant	[2]
CNTN2	OTQG9W7C	Supportive	Autosomal dominant	[3]
CTNND2	OTYKE30Y	Supportive	Autosomal dominant	[4]
MARCHF6	OTBTA03N	Supportive	Autosomal dominant	[5]
SAMD12	OTIFG9O6	Supportive	Autosomal dominant	[6]
CSMD3	OTAT75SW	Strong	Biomarker	[7]
NCOR2	OTY917X0	Strong	Biomarker	[8]
RAPGEF2	OTZWX2AA	Strong	Biomarker	[9]
TNRC6A	OT493IOM	Strong	Biomarker	[9]

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADRA2B	TTWM4TY	Supportive	Autosomal dominant	[2]
CNTN2	TT2Z1WB	Supportive	Autosomal dominant	[3]

References

• [1] TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4. Brain. 2019 Nov 1;142(11):3360-3366. doi: 10.1093/brain/awz267.
• [2] 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.
• [3] 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.
• [4] -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.
• [5] Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. Nat Commun. 2019 Oct 29;10(1):4919. doi: 10.1038/s41467-019-12763-9.
• [6] Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1. Brain. 2018 Aug 1;141(8):2280-2288. doi: 10.1093/brain/awy160.
• [7] A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1.Biochem Biophys Res Commun. 2003 Sep 12;309(1):143-54. doi: 10.1016/s0006-291x(03)01555-9.
• [8] Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases.J Hum Genet. 2019 Mar;64(3):191-197. doi: 10.1038/s10038-018-0551-7. Epub 2018 Dec 17.
• [9] 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.