Missense Variants in the A Isoform of <scp> <i>FGF13</i> </scp> as a Novel Cause of Paroxysmal Dyskinesia
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.
Authors
- Roseline Caumes
- Regina Trollmann (ORCID: https://orcid.org/0000-0001-6031-8537)
- Georgia Vasileiou (ORCID: https://orcid.org/0000-0002-1993-1134)
- Andrew E. Fry (ORCID: https://orcid.org/0000-0001-9778-6924)
- Claudia Ravelli (ORCID: https://orcid.org/0000-0001-9993-074X)
- Eleni Panagiotakaki (ORCID: https://orcid.org/0000-0003-2611-0227)
- M. Anheim
- Adeline Trauffler
- Diane Doummar (ORCID: https://orcid.org/0000-0002-3376-3069)
- Aurélie Méneret (ORCID: https://orcid.org/0000-0002-7623-1142)
- Clementine Fort
- Thomas Smol (ORCID: https://orcid.org/0000-0002-0119-5896)
- XueQin Lin
- Matthildi Athina Papathanasiou Terzi
- André Reis
- Cyril Mignot
- E. Roze
- Jean‐Madeleine de Sainte Agathe
- Gaëtan Lesca
- Thomas Wirth
- Gaelle Gauthe
- Hailan He
- Elisabeth Bosch
Institutions
- Université Claude Bernard Lyon 1 (FR)
- Centre National de la Recherche Scientifique (FR)
- Central South University (CN)
- Inserm (FR)
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- Centre Hospitalier Universitaire de Lille (FR)
- Sorbonne Université (FR)
- Hôpital Femme Mère Enfant (FR)
- Hôpital Armand-Trousseau (FR)
- Institut de génétique et de biologie moléculaire et cellulaire (FR)
- Public Health Wales (GB)
- Universitätsklinikum Erlangen (DE)
- Centre de Recherche en Neurosciences de Lyon (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hospices Civils de Lyon (FR)
- Technologie Médicale (France) (FR)
- Hôpital Jeanne de Flandre (FR)
- Centre Hospitalier Métropole Savoie (FR)
- Associação de Assistência à Criança Deficiente (BR)
- Laboratoire National de Référence (MA)
- Pitié-Salpêtrière Hospital (FR)
- Institut de Psychiatrie et Neurosciences de Paris (FR)
- Institut du Cerveau (FR)
- Xiangya Hospital Central South University (CN)
- Hôpital Fontmaure (FR)
- Hôpital Civil, Strasbourg (FR)
- Université de Strasbourg (FR)
- Cardiff University (GB)
- HCL Technologies (India) (IN)
Publication Details
- Journal
- Movement Disorders
- Published
- 2026-03-11
- DOI
- https://doi.org/10.1002/mds.70256
- Primary Topic
- Fibroblast Growth Factor Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00