Associated Papers
Mini-review: "Hippocalcin: Molecular mechanisms and therapeutic potential in neuronal function".
Park SY
Neuroscience Letters, 2025
Case Report of Pediatric HPCA-Associated Dystonia: Analysis of Ca2+ and K+ Channel Dynamics and Experience With Pallidal Deep Brain Stimulation.
Nou-Fontanet L et al.
Pediatric Neurology, 2025
Infantile-onset choreo-dystonia due to a novel homozygous truncating HPCA variant: A first report from India.
Holla VV et al.
Parkinsonism & Related Disorders, 2025
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS27_hom
Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review.
Magrinelli F et al.
Movement Disorders Clinical Practice, 2023
Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition.
Siegert S et al.
Neuropediatrics, 2021
Perturbed Ca2+-dependent signaling of DYT2 hippocalcin mutant as mechanism of autosomal recessive dystonia.
Osypenko DS et al.
Neurobiology of Disease, 2019
Delineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia!
Balint B et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype.
Atasu B et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2018
Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia.
Helassa N et al.
Human Molecular Genetics, 2017
Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.
Domingo A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2016
Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
Charlesworth G et al.
American Journal of Human Genetics, 2015
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