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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Detalles Bibliográficos
Autores principales: Piarroux, Julie, Riant, Florence, Humbertclaude, Véronique, Remerand, Ganaelle, Hadjadj, Jessica, Rejou, Franck, Coubes, Christine, Pinson, Lucile, Meyer, Pierre, Roubertie, Agathe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187715/
https://www.ncbi.nlm.nih.gov/pubmed/32162847
http://dx.doi.org/10.1002/acn3.51005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187715/
https://www.ncbi.nlm.nih.gov/pubmed/32162847
http://dx.doi.org/10.1002/acn3.51005

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