Cargando…
Ataxia and Diplopia: A New SCN8A-Related Phenotype
OBJECTIVES: The objective of this study was to describe the first patient with recurrent ataxia and diplopia in association with a pathogenic variant in SCN8A. METHODS: We identified a girl with a heterozygous SCN8A pathogenic variant and performed thorough phenotyping. RESULTS: A 10-year-old girl w...
| Autores principales: | , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2023
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10335842/ https://www.ncbi.nlm.nih.gov/pubmed/37440794 http://dx.doi.org/10.1212/NXG.0000000000200085 |