ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children

A heterogeneous spectrum of clinical manifestations caused by mutations in ATP1A3 have been previously described. Here we report two cases of infantile‐onset cerebellar ataxia, due to two different ATP1A3 variants. Both patients showed slowly progressive cerebellar ataxia without paroxysmal or episo...

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Detalles Bibliográficos
Autores principales: Sasaki, Masayuki, Sumitomo, Noriko, Shimizu‐Motohashi, Yuko, Takeshita, Eri, Kurosawa, Kenji, Kosaki, Kenjiro, Iwama, Kazuhiro, Mizuguchi, Takeshi, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7754140/
https://www.ncbi.nlm.nih.gov/pubmed/32895939
http://dx.doi.org/10.1111/dmcn.14666

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