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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Ann Clin Transl Neurol
Prif Awduron: Piarroux, Julie, Riant, Florence, Humbertclaude, Véronique, Remerand, Ganaelle, Hadjadj, Jessica, Rejou, Franck, Coubes, Christine, Pinson, Lucile, Meyer, Pierre, Roubertie, Agathe
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2020
Pynciau:
Brief Communications
Mynediad Ar-lein: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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