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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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SAGE Publications
2023
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| 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 |