Epilepsy, Familial Adult Myoclonic, 2 (STARD7)
| Dred_ID | RD00059 |
| OMIM ID | 607876 |
| Disease name | Epilepsy, Familial Adult Myoclonic, 2 |
| Alternative names | FAME2 |
| Category | Genetic diseases, Rare diseases, Metabolic diseases |
| Phenotype | 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). MalaCards based summary: Epilepsy, Familial Adult Myoclonic, 2, also known as cortical myoclonic tremor with epilepsy, familial, 2, is related to benign adult familial myoclonic epilepsy and epilepsy, and has symptoms including myoclonus An important gene associated with Epilepsy, Familial Adult Myoclonic, 2 is STARD7 (StAR Related Lipid Transfer Domain Containing 7). Related phenotypes are intellectual disability and cognitive impairment. |
| Miscellaneouse | Nonprogressive or slowly progressive movements ('tremors') characterized by 8 to 10-hz discharges onset of tremor in adolescence or adulthood later onset of myoclonus and seizures |
| Prevalence | an estimated prevalence of 1/35,000 was reported in Japan [source: MalaCards] |
| Inheritance | autosomal dominant |
| Anticipation | Yes |
| Evidence | Strong |
| Gene symbol | STARD7 |
| Alias symbols | GTT1; FAME2 |
| Gene name | StAR related lipid transfer domain containing 7 |
| Gene map locus | 2q11.2; chr2:96,184,859-96,208,827(-) |
| Ensembl Gene ID | ENSG00000084090 |
| Gene expression and Gene Ontology | BioGPS |
| Protein expression | Human Protein Atlas |
| Gene sequence | Sequence |
| Variation | ClinVar, dbSNP | Gene conservation | Gene Conservation from UCSC Genome Browser |
| Gene Description | This gene encodes protein transferring phospholipids among intracellular membranes. |
| Repeat unit | TTTCA/TTTTA |
| Normal repeat copies | 9-20(TTTTA) |
| Pathogenic repeat copies | ≥661 |
| Gene | STARD7 |
| Repeat location | intron |
| Chromosome locus | chr2:96197064-96197121 (-) |
| Repeat conservation | Repeat Conservation from UCSC Genome Browser |
| Toxic cause | RNA |
| Possible toxicity | 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. |
| Pathway annotation | Reactome, KEGG |
| PMID | 31664034 |
| Authors | Corbett MA, Kroes T, Veneziano L, Bennett MF, et al. |
| Title | Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 |
| Journal | Nature Communications |
| Year | 2019 |