Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Cyril Mignot; Matthildi Athina Papathanasiou Terzi; Claudia Ravelli; Elisabeth Bosch; XueQin Lin; Adeline Trauffler; Roseline Caumes; Andrew E. Fry; Clementine Fort; Gaelle Gauthe; Regina Trollmann; Thomas Wirth; M. Anheim; Aurélie Méneret; E. Roze; Jean‐Madeleine de Sainte Agathe; Hailan He; Eleni Panagiotakaki; Gaëtan Lesca; André Reis; Diane Doummar; Thomas Smol; Georgia Vasileiou

doi:10.1002/mds.70256

Key Points

To identify the role of FGF13 variants in paroxysmal dyskinesia and their implications for cognitive effects.
Analysis of missense variants in the FGF13 gene.
Assessment of caffeine responsiveness in PxD patients.
Evaluation of cognitive impairment in affected individuals.
FGF13A variants linked to a partly caffeine-responsive phenotype.
Patients exhibit variable cognitive impairment without epilepsy.

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Implication

FGF13 variants show variable effects on cognitive impairment in PxD, suggesting unique treatment strategies.

Abstract

FGF13A variants cause a partially caffeine-responsive PxD phenotype with variable cognitive impairment, albeit without epilepsy. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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Cite This Study

Mignot et al. (2026) studied this question.

synapsesocial.com/papers/69b4ad9a18185d8a39801365 https://doi.org/10.1002/mds.70256

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Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Key Points

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Implication

Abstract

Discussion

Cite This Study

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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