Case Report: Compound heterozygous KCTD7 variants in two siblings presenting with myoclonic epilepsy and ataxia
This case expands the variant spectrum of <i>KCTD7</i>-related disorders and emphasizes the utility of comprehensive genetic testing in early-onset neurodegenerative epileptic syndromes. Functional studies are needed to clarify the clinical significance of the novel <i>KCTD7</i> variant.
Authors
- Jingjing Song (ORCID: https://orcid.org/0000-0002-2026-8755)
- Wenhui Liu (ORCID: https://orcid.org/0009-0006-7261-3107)
- Xinping Yang (ORCID: https://orcid.org/0000-0003-4086-4180)
- Xiaoli Huang (ORCID: https://orcid.org/0000-0002-2833-3523)
- Hongren Su (ORCID: https://orcid.org/0009-0005-3647-6304)
- Yang Tian
- B. X. Yu (ORCID: https://orcid.org/0000-0001-6406-4810)
- Luoxiao Qin
- Shitao Wei
- Wenlin Wu (ORCID: https://orcid.org/0000-0002-6970-4722)
Institutions
- Liuzhou Maternal and Child Health Hospital (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Frontiers in Neuroscience
- Published
- 2025-11-12
- DOI
- https://doi.org/10.3389/fnins.2025.1670008
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 0.00