Familial adult myoclonic epilepsy (FAME)

Genetics

• This is a form of idiopathic generalised epilepsy
• The transmission is autosomal dominant
• The onset is typically in adolescence
• It is caused by TTTTA or TTTCA repeat expansions on different genes

References

1. Lagorio I, Zara F, Striano S, Striano P. Familial adult myoclonic epilepsy: a new expansion repeats disorder. Seizure 2019; 67:73-77.
2. Licchetta L, Pippucci T, Bisulli F, et al. A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype. Epilepsia 2013; 54:1298-1306. 
3. Magnin E, Vidailhet M, Depienne C, et al. Familial cortical myoclonic tremor with epilepsy (FCMTE): Clinical characteristics and exclusion of linkages to 8q and 2p in a large French family. Rev Neurol (Paris) 2009; 165:812-820. 
4. Plaster NM, Uyama E, Uchino M, Ikeda T, Flanigan KM, Kondo I, Ptácek LJ. Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. Neurology 1999; 53:1180-1183.
5. Carr JA, van der Walt PE, Nakayama J, et al. FAME 3: a novel form of progressive myoclonus and epilepsy. Neurology 2007; 68:1382-1389.
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Related checklists

• Familial myoclonic epilepsy syndrome: types
• Familial cortical myoclonus (FCM)
• Autosomal recessive cortical myoclonic tremor and epilepsy
• Myoclonic occipital photosensitive epilepsy with dystonia (MOPED)