SCN2A- Associated Episodic and Persistent Ataxia with Cerebellar Atrophy: A Case Report

SCN2A, a gene that codes for a sodium channel highly expressed in the cerebellum, has been linked to a heterogeneous phenotype, including episodic ataxia (EA) and epilepsy, among other symptoms(1). Given the rarity of SCN2A-associated EA and its recent description, it is important the genotype-pheno...

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Detalles Bibliográficos
Autores principales: Murray, Maeve, Martindale, Jaclyn M., Otallah, Scott I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10026144/
https://www.ncbi.nlm.nih.gov/pubmed/36950068
http://dx.doi.org/10.1177/2329048X231163944

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10026144/
https://www.ncbi.nlm.nih.gov/pubmed/36950068
http://dx.doi.org/10.1177/2329048X231163944

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