Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense <scp> <i>HPCA</i> </scp> Variant: Case Series and Literature Review-Reference-Cited by-同舟云学术

Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review

Published:2022-08-23 Issue:1 Volume:10 Page:101-108
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Magrinelli Francesca¹^ORCID,Bhatia Kailash P.¹^ORCID,Beiraghi Toosi Mehran²³,Arab Fatemeh⁴,Karimiani Ehsan Ghayoor⁵⁶,Sedighzadeh Sahar⁷⁸,Ansari Behnaz⁹,Neshatdoust Maedeh¹⁰,Rocca Clarissa¹¹,Houlden Henry¹¹^ORCID,Maroofian Reza¹¹

Affiliation:

1. Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology University College London London United Kingdom

2. Department of Pediatrics, School of Medicine Mashhad University of Medical Sciences Mashhad Iran

3. Neuroscience Research Center Mashhad University of Medical Sciences Mashhad Iran

4. Department of Medical Genetics, Faculty of Medicine Tehran University of Medical Sciences Tehran Iran

5. Molecular and Clinical Sciences Institute St. George's University of London London United Kingdom

6. Department of Medical Genetics Next Generation Genetic Polyclinic Mashhad Iran

7. Department of Biological Sciences, Faculty of Science Shahid Chamran University of Ahvaz Ahvaz Iran

8. KaryoGen Medical Genetics Laboratory Isfahan Iran

9. Department of Neurology, School of Medicine, Neurosciences Research Centre, Al‐Zahra Hospital Isfahan University of Medical Sciences Isfahan Iran

10. Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology University of Isfahan Isfahan Iran

11. Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology London United Kingdom

Funder

Wellcome Trust

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13529

Reference20 articles.

1. Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia

3. DYT2 screening in early-onset isolated dystonia

4. Autosomal recessive, DYT2-like primary torsion dystonia: A new family

5. HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype

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