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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...

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Detalles Bibliográficos
Autores principales:	Laliberté, Alexandra, Myers, Kenneth A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2023
Materias:	Clinical/Scientific Note
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

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