Progressive myoclonus epilepsy with ataxia
| Disorder | |
|---|---|
| OMIM #: | #611726 (Click to access OMIM database) |
| Disorder: | Progressive myoclonus epilepsy with ataxia |
| Also known as: | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions EPM3 |
| Clinical | |
| Phenotype: | myoclonic seizures, secondary generalization, tonic episodes, dysarthria, ataxia, developmental delay, motor delay |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Old Colony Mennonite | |
| Gene: | KCTD7 |
| Base Change: | A>G, at nucleotide 827 |
| Amino Acid Change: | tyr 276 --> cys |
| Last updated: | 2022-11-15 |
| References |
|---|
| Farhan SM, Murphy LM, Robinson JF, Wang J, Siu VM, Rupar CA, Prasad AN; FORGE Canada Consortium, Hegele RA. (2014) Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. Epilepsia Sep;55(9):e106-11. PubMed ID: 25060828 |
| Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Warman Chardon J, Yoon G, Rouleau GA, Suchowersky O, Siu VM, Murphy L, Hegele RA, Marshall CR; FORGE Canada Consortium, Bulman DE, Majewski J, Tarnopolsky M, Boycott KM. (2014) Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat Jan;35(1):45-9. PubMed ID: 24108619 |
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