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...

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Detalles Bibliográficos
Autores principales: Lavenstein, Bennett, McGurrin, Patrick, Attaripour, Sanaz, Vial, Felipe, Hallett, Mark
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2022
Materias:
Case Report
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

Internet

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

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