Phenotypical variability and atypical presentations in a French cohort of Andersen

Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome

Published:2022-05-04 Issue:8 Volume:29 Page:2398-2411
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Euro J of Neurology

Author:

Villar‐Quiles Rocio Nur¹²^ORCID,Sternberg Damien³,Tredez Grégoire¹,Beatriz Romero Norma²⁴,Evangelista Teresinha¹²⁴,Lafôret Pascal⁵,Cintas Pascal⁶,Sole Guilhem⁷,Sacconi Sabrina⁸,Bendahhou Said⁹,Franques Jérôme¹⁰,Cances Claude¹¹,Noury JB¹²,Delmont Emilien¹³^ORCID,Blondy Patricia³,Perrin Laurence¹⁴,Hezode Marianne¹,Fournier Emmanuel¹,Fontaine Bertrand¹²¹⁵,Stojkovic Tanya¹²,Vicart Savine¹¹⁵

Affiliation:

1. Reference Center for Neuromuscular Disorders APHP Institute of Myology Pitié‐Salpêtrière Hospital Paris France

2. Institute of Myology Centre de Recherche en Myologie UMRS974 Sorbonne Université – INSERM Paris France

3. Reference Center for Muscle Channelopathies Service de Biochimie et Centre de Génétique APHP Pitié‐Salpêtrière Hospital Paris France

4. Neuromuscular Morphology Unit Institute of Myology Pitié‐Salpêtrière Hospital Paris France

5. Reference Center for Neuromuscular Disorders APHP Raymond‐Poincaré Hospital Paris France

6. Neurology Department Pierre‐Paul Riquet Hospital CHU Toulouse Toulouse France

7. Reference Centre for Neuromuscular Disorders Pellegrin Hospital CHU Bordeaux Bordeaux France

8. Neuromuscular Diseases and ALS Specialized Center University of Nice‐Sophia Antipolis Nice France

9. UMR7370 CNRS LP2M Labex ICST Faculty of Medicine University of Nice‐Sophia Antipolis Nice France

10. Assistance Publique‐Hôpitaux de Marseille Department of Neurology and Neuromuscular Diseases La Timone Hospital Marseille France

11. AOC (Atlantique‐Occitanie‐Caraïbe) Reference Centre for Neuromuscular Disorders Neuropediatric Department Toulouse University Hospital Toulouse France

12. Neurology Department Neuromuscular Center CHRU Cavale Blanche Brest France

13. Department of Neurology University Hospital Timone Marseille France

14. Pediatrics Department APHP Robert‐Débré Hospital Paris France

15. Reference Center for Muscle Channelopathies APHP Institut de Myologie Pitié‐Salpêtrière Hospital Paris France

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.15369

Reference42 articles.

1. Prevalence study of genetically defined skeletal muscle channelopathies in England

2. Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands

3. Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features

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