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 9 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]
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.