Acetazolamide Improves Episodic Ataxia in a Patient with Non‐Verbal Autism and Paroxysmal Dyskinesia Due To <i>PRRT2</i> Biallelic Variants-Reference-Cited by-同舟云学术

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Acetazolamide Improves Episodic Ataxia in a Patient with Non‐Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants

Published:2022-08-22 Issue:7 Volume:9 Page:979-982
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Martorell Loreto¹²^ORCID,Macaya Alfons³⁴⁵^ORCID,Pérez‐Dueñas Belén²⁵⁶^ORCID,Ortigoza‐Escobar Juan Darío²⁵⁷^ORCID

Affiliation:

1. Department of Genetic and Molecular Medicine‐IPER Institut de Recerca Sant Joan de Déu Barcelona Spain

2. Centre for Biomedical Research on Rare Diseases (CIBER‐ER) Instituto de Salud Carlos III Barcelona Spain

3. Department of Paediatric Neurology Vall d'Hebron University Hospital Barcelona Spain

4. Universitat Autònoma de Barcelona Barcelona Spain

5. European Reference Network for Rare Neurological Diseases (ERN‐RND) Barcelona Spain

6. Paediatric Neurology Research Group, Vall d'Hebron Research Institut, Universitat Autònoma de Barcelona Barcelona Spain

7. Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu Barcelona Spain

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13528

Reference14 articles.

1. Paroxysmal kinesigenic dyskinesia

2. The clinical and genetic heterogeneity of paroxysmal dyskinesias

3. PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

4. Hemiplegic Migraine Associated With PRRT2 Variations

5. PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Refractive Errors Linked to Autism Spectrum Disorders in the Pediatric Population and Young Adults: A Systematic Review and Meta-Analysis;Review Journal of Autism and Developmental Disorders;2024-07-13

2. Genetic and phenotypic analyses of PRRT2 positive and negative paroxysmal kinesigenic dyskinesia;Therapeutic Advances in Neurological Disorders;2024-01

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