Familial Cortical Myoclonus
| Disorder | |
|---|---|
| OMIM #: | #614937 (Click to access OMIM database) |
| Disorder: | Familial Cortical Myoclonus |
| Also known as: | FAME familial cortical myoclonic tremor with epilepsy |
| Clinical | |
| Phenotype: | cortical multifocal progressive myoclonus, late-onset ataxia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | NOL3 |
| Base Change: | E21Q |
| Amino Acid Change: | |
| Last updated: | 2022-11-04 |
| References |
|---|
| Russell JF, Steckley JL, Coppola G, Hahn AFG, Howard MA, Kornberg Z, Huang A, Mirsattari SM, Merriman B, Klein E, Choi M, Lee HY, Kirk A, Nelson-Williams C, Gibson G, Baraban SC, Lifton RP, Geschwind DH, Fu YH, Ptacek LJ. (2012) Familial cortical myoclonus with a mutation in NOL3. Ann. Neurol 72: 175-183. PubMed ID: 2292685 |
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