Article
FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.
Annals of clinical and translational neurology - 1 Apr 2020
Piarroux Julie, Riant Florence, Humbertclaude Véronique, Remerand Ganaelle, Hadjadj Jessica, Rejou Franck, Coubes Christine, Pinson Lucile, Meyer Pierre, Roubertie Agathe
Abstract excerpt
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 were noticed in individuals harboring FGF14 mutation with or without episodic ataxia. These cases and literature...
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