ArticleNeurobiology of disease2012
A canine BCAN microdeletion associated with episodic falling syndrome.
Article in Neurobiology of disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
31 citing papers in PubMed, 54 citations in OpenAlex.
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- Canine paroxysmal dyskinesia: distribution of etiological subtypes and structural and reactive causes in a retrospective tertiary care cohort.Frontiers in veterinary science · 2026Article
- Myotonia Congenita in Australian Merino Sheep with a Missense Variant inAnimals : an open access journal from MDPI · 2024Article
- The effect of MRI-based screening and selection on the prevalence of syringomyelia in the Dutch and Danish Cavalier King Charles Spaniels.Frontiers in veterinary science · 2024Article
- Canine paroxysmal dyskinesia-a review.Frontiers in veterinary science · 2024Review
- An Overview of Canine Inherited Neurological Disorders with Known Causal Variants.Animals : an open access journal from MDPI · 2023Review
- Dystonia in veterinary neurology.Journal of veterinary internal medicine · 2022Review
- Phenotypic characterisation of paroxysmal dyskinesia in Sphynx cats.Journal of feline medicine and surgery · 2022Article
- A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy.Human genetics · 2021Article
- International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification.Journal of veterinary internal medicine · 2021Article
- Levetiracetam-responsive paroxysmal exertional dyskinesia in a Welsh Terrier.Journal of veterinary internal medicine · 2021Article
- Phenotypic characterization of paroxysmal dyskinesia in Maltese dogs.Journal of veterinary internal medicine · 2020Article
- Companion animal models of neurological disease.Journal of neuroscience methods · 2020Review
- Genomic and Transcriptomic Analysis of Amoebic Gill Disease Resistance in Atlantic Salmon (Frontiers in genetics · 2019Article
- Article
- A cross-species approach to disorders affecting brain and behaviour.Nature reviews. Neurology · 2018Review
- Paroxysmal Dyskinesia in Border Terriers: Clinical, Epidemiological, and Genetic Investigations.Journal of veterinary internal medicine · 2017Article
- A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.Neurogenetics · 2017Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
Abstract
Episodic falling syndrome (EFS) is a canine paroxysmal hypertonicity disorder found in Cavalier King Charles spaniels. Episodes are triggered by exercise, stress or excitement and characterized by progressive hypertonicity throughout the thoracic and pelvic limbs, resulting in a characteristic 'deer-stalking' position and/or collapse. We used a genome-wide association strategy to map the EFS locus to a 3.48 Mb critical interval on canine chromosome 7. By prioritizing candidate genes on the basis of biological plausibility, we found that a 15.7 kb deletion in BCAN, encoding the brain-specific extracellular matrix proteoglycan brevican, is associated with EFS. This represents a compelling causal mutation for EFS, since brevican has an essential role in the formation of perineuronal nets governing synapse stability and nerve conduction velocity. Mapping of the deletion breakpoint enabled the development of Multiplex PCR and Multiplex Ligation-dependent Probe Amplification (MLPA) genotyping tests that can accurately distinguish normal, carrier and affected animals. Wider testing of a larger population of CKCS dogs without a history of EFS from the USA revealed that carriers are extremely common (12.9%). The development of molecular genetic tests for the EFS microdeletion will allow the implementation of directed breeding programs aimed at minimizing the number of animals with EFS and enable confirmatory diagnosis and pharmacotherapy of affected dogs.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.