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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Detalhes bibliográficos
Publicado no:Dev Med Child Neurol
Main Authors: Sasaki, Masayuki, Sumitomo, Noriko, Shimizu‐Motohashi, Yuko, Takeshita, Eri, Kurosawa, Kenji, Kosaki, Kenjiro, Iwama, Kazuhiro, Mizuguchi, Takeshi, Matsumoto, Naomichi
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Case Series
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7754140/
https://ncbi.nlm.nih.gov/pubmed/32895939
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/dmcn.14666
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