Both Heterozygous and Homozygous Loss‐of‐Function <scp> <i>JPH3</i> </scp> Variants Are Associated with a Paroxysmal Movement Disorder-Reference-Cited by-同舟云学术

Both Heterozygous and Homozygous Loss‐of‐Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder

Published:2022-10-23 Issue:1 Volume:38 Page:155-157
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Steel Dora¹²^ORCID,Vezyroglou Aikaterini¹²,Barwick Katy¹,Smith Martin³,Vogt Julie⁴,Gibbon Frances M.⁵,Cross J. Helen¹²,Kurian Manju A.¹²^ORCID

Affiliation:

1. Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children UCL Great Ormond Street Institute of Child Health London United Kingdom

2. Department of Neurology Great Ormond Street Hospital London United Kingdom

3. Department of Paediatric Neurology Oxford University Hospitals NHS Foundation Trust London United Kingdom

4. West Midlands Regional Genetics Service Birmingham Women and Children's Hospital NHS Foundation Trust Birmingham United Kingdom

5. Noah's Ark Children's Hospital for Wales Cardiff and Vale University Health Board Cardiff Wales United Kingdom

Funder

National Institute for Health Research

Sir Jules Thorn Charitable Trust

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.29250

Reference7 articles.

1. Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders

2. Junctophilins

3. An Antisense CAG Repeat Transcript at JPH3 Locus Mediates Expanded Polyglutamine Protein Toxicity in Huntington's Disease-like 2 Mice

4. ADrosophilamodel of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease

5. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2

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