(2025) KCNC1-Related Progressive Myoclonus Epilepsy: A Case Report. Clinical Case Reports. p. 6. ISSN 2050-0904
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Abstract
KCNC1-related progressive myoclonus epilepsy (EPM7) is a rare disorder causing seizures, myoclonus, and ataxia. The first reported Iranian case highlights the role of genetic testing in diagnosis and potential future treatments, including gene therapy and novel pharmacological approaches.
| Item Type: | Article |
|---|---|
| Keywords: | ataxia case report EPM7 KCNC1 MEAK progressive myoclonic epilepsy kcnc1 ataxia General & Internal Medicine |
| Page Range: | p. 6 |
| Journal or Publication Title: | Clinical Case Reports |
| Journal Index: | ISI |
| Volume: | 13 |
| Number: | 8 |
| Identification Number: | https://doi.org/10.1002/ccr3.70758 |
| ISSN: | 2050-0904 |
| Depositing User: | خانم ناهید ضیائی |
| URI: | http://eprints.mui.ac.ir/id/eprint/32867 |
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