Familial Adult Myoclonic Epilepsy-1 (SAMD12)
| Dred_ID | RD00058 |
| OMIM ID | 601068 |
| Disease name | Familial Adult Myoclonic Epilepsy-1 |
| Alternative names | FAME1 BAFME1 FCMTE1 |
| Category | Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases |
| Phenotype | OMIM: Familial cortical myoclonic tremor associated with epilepsy (FCMTE) is characterized by an autosomal dominant inheritance, adult-onset cortical myoclonus, and 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). |
| Miscellaneouse | OMIM: childhood onset has been reported adult onset (mean age 37 years) nonprogressive course tremor may be elicited by movement or postural maintenance tremor is aggravated by emotional stress clinically resembles essential tremor, but not responsive to beta-adrenergic blockers anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines) genetic heterogeneity (see bafme2, ) |
| Prevalence | N/A [source: MalaCards] |
| Inheritance | Autosomal dominant |
| Anticipation | Yes |
| Evidence | Strong |
| Gene symbol | SAMD12 |
| Alias symbols | SAMD12 |
| Gene name | sterile alpha motif domain containing 12 |
| Gene map locus | 8q24.11; chr8:118,131,825-118,622,112(-) |
| Ensembl Gene ID | ENSG00000177570 |
| 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 | SAMD12 (Sterile Alpha Motif Domain Containing 12) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. |
| Repeat unit | TTTCA/TTTTA |
| Normal repeat copies | 7-300(TTTTA) |
| Pathogenic repeat copies | ≥150 |
| Gene | SAMD12 |
| Repeat location | intron |
| Chromosome locus | chr8:118366808-118366918 (-) |
| Repeat conservation | Repeat Conservation from UCSC Genome Browser |
| Toxic cause | RNA |
| Possible toxicity | Neuropathologic examination of brain tissue from 6 patients using a probe targeting the UUUCA repeat showed accumulation of abnormal RNA foci in cortical neurons and, to a lesser extent, in Purkinje cells. Western blot analysis showed decreased levels of SAMD12 protein in patient brains. One patient with homozygous repeat expansions had mild and diffuse loss of Purkinje cells or Purkinje cells with halo-like amorphous materials around the cytoplasm, referred to as 'somatic sprouts,' suggesting possible degeneration. [By OMIM] |
| Pathway annotation | Reactome, KEGG |
| PMID | 29507423 |
| Authors | Hiroyuki Ishiura, Shinichi Morishita, Shoji Tsuji. |
| Title | Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy |
| Journal | Nature Genetics |
| Year | 2018 |