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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Dades bibliogràfiques
Publicat a:Ann Clin Transl Neurol
Autors principals: Piarroux, Julie, Riant, Florence, Humbertclaude, Véronique, Remerand, Ganaelle, Hadjadj, Jessica, Rejou, Franck, Coubes, Christine, Pinson, Lucile, Meyer, Pierre, Roubertie, Agathe
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
Matèries:
Brief Communications
Accés en línia: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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