MedGen

Familial adult myoclonic epilepsy-1 (FAME1), also known as familial cortical myoclonic tremor associated with epilepsy-1 (FCMTE1), is characterized by autosomal dominant, adult-onset cortical myoclonus, with seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by Depienne et al., 2010). FAME1 tends to occur in patients of southern Asian descent (summary by Bennett et al., 2020). Genetic Heterogeneity of Familial Adult Myoclonic Epilepsy See also FAME2 (607876), caused by mutation in the STARD7 gene (616712) on chromosome 2q11; FAME3 (613608), caused by mutation in the MARCHF6 gene (613297) on chromosome 5p15; FAME4 (615127), which maps to chromosome 3q26.32-q28; FAME6 (618074), caused by mutation in the TNRC6A gene (610739) on chromosome 16p12; and FAME7 (618075), caused by mutation in the RAPGEF2 gene (609530) on chromosome 4. The disorder previously designated FAME5 has been reclassified as a type of autosomal recessive early-onset epilepsy (EPEO5; 615400). Progressive myoclonic epilepsy is a more severe disorder (see, e.g., EPM1, 254800). [from OMIM]

Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures. Electrophysiologic studies are consistent with cortical reflex myoclonus. Some patients may show cognitive decline or migraines; photosensitivity is common (summary by De Fusco et al., 2014; Crompton et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068). [from OMIM]

EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency. [from HPO]