| Myoclonic epilepsy | |
|---|---|
| Specialty | Neurology |
Myoclonic epilepsy refers to a family of epilepsies that present with myoclonus. When myoclonic jerks are occasionally associated with abnormal brain wave activity, it can be categorized as myoclonic seizure. If the abnormal brain wave activity is persistent and results from ongoing seizures, then a diagnosis of myoclonic epilepsy may be considered.[1]
Familial adult myoclonus Epilepsy (FAME) This is a condition characterized by the repetition of non-coding sequences and has been identified using various abbreviations. Initially, it was associated with four primary gene locations: FAME1 (8q23.3–q24.1), FAME2 (2p11.1–q12.1), FAME3 (5p15.31–p15.1), and FAME4 (3q26.32–3q28). Currently, it is understood that the genetic mechanism behind FAME involves the elongation of similar non-coding sequences, specifically pentanucleotide repeats, namely TTTCA and TTTTA, within different genes.[2]
- ^ Holmes, Gregory L. (April 2020). "Drug Treatment of Progressive Myoclonic Epilepsy". Pediatric Drugs. 22 (2): 149–164. doi:10.1007/s40272-019-00378-y. PMC 7901803. PMID 31939107.
- ^ Cuccurullo, Claudia; Striano, Pasquale; Coppola, Antonietta (January 2023). "Familial Adult Myoclonus Epilepsy: A Non-Coding Repeat Expansion Disorder of Cerebellar–Thalamic–Cortical Loop". Cells. 12 (12): 1617. doi:10.3390/cells12121617. PMC 10297251. PMID 37371086.
This article incorporates text from this source, which is available under the CC BY 4.0 license.
