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KCNN2 Mutation in Pediatric Tremor Myoclonus Dystonia Syndrome with Electrophysiological Evaluation
BACKGROUND: Here we combine clinical, electrophysiological, and genetic findings to phenotype an unusual childhood movement disorder in a patient with a rare form of KCNN2 mutation. CASE REPORT: A 10-year-old male presented with a clinical syndrome of tremor and myoclonus. Electrophysiology demonstr...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Ubiquity Press
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8796689/ https://www.ncbi.nlm.nih.gov/pubmed/35106185 http://dx.doi.org/10.5334/tohm.668 |