# KCNC1 ‐Related Progressive Myoclonus Epilepsy: A Case Report

**Authors:** Mehri Salari, Sara Sadeghzadeh, Masoud Etemadifar

PMC · DOI: 10.1002/ccr3.70758 · Clinical Case Reports · 2025-08-04

## TL;DR

This paper reports the first Iranian case of a rare genetic epilepsy disorder and emphasizes the importance of genetic testing for diagnosis and future treatments.

## Contribution

The paper presents the first reported Iranian case of KCNC1-related progressive myoclonus epilepsy.

## Key findings

- KCNC1-related progressive myoclonus epilepsy causes seizures, myoclonus, and ataxia.
- Genetic testing is crucial for diagnosing this rare disorder.
- Future treatments may include gene therapy and new medications.

## 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.

## Linked entities

- **Genes:** KCNC1 (potassium voltage-gated channel subfamily C member 1) [NCBI Gene 3746]
- **Diseases:** progressive myoclonus epilepsy (MONDO:0020074), EPM7 (MONDO:0014521)

## Full-text entities

- **Genes:** KCNC1 (potassium voltage-gated channel subfamily C member 1) [NCBI Gene 3746] {aka EPM7, KV3.1, KV4, NGK2}
- **Diseases:** seizures (MESH:D012640), Myoclonus Epilepsy (MESH:D004831), myoclonus (MESH:D009207), EPM7 (MESH:D020191), ataxia (MESH:D001259)

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12321598/full.md

## References

14 references — full list in the complete paper: https://tomesphere.com/paper/PMC12321598/full.md

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Source: https://tomesphere.com/paper/PMC12321598