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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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Dettagli Bibliografici
Pubblicato in:Ann Clin Transl Neurol
Autori principali: Piarroux, Julie, Riant, Florence, Humbertclaude, Véronique, Remerand, Ganaelle, Hadjadj, Jessica, Rejou, Franck, Coubes, Christine, Pinson, Lucile, Meyer, Pierre, Roubertie, Agathe
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2020
Soggetti:
Accesso online: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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