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FGF14‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9

We report four patients from two families who presented attacks of childhood‐onset episodic ataxia associated with pathogenic mutations in the FGF14 gene. Attacks were triggered by fever, lasted several days, and had variable frequencies. Nystagmus and/or postural tremor and/or learning disabilities...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Piarroux, Julie, Riant, Florence, Humbertclaude, Véronique, Remerand, Ganaelle, Hadjadj, Jessica, Rejou, Franck, Coubes, Christine, Pinson, Lucile, Meyer, Pierre, Roubertie, Agathe
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7187715/
https://ncbi.nlm.nih.gov/pubmed/32162847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51005
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