How is Episodic Falling (EF) inherited in dogs?

Episodic Falling (EF) follows a Autosomal recessive inheritance pattern. It has been observed in 5 of 266 breeds screened in the Sniff Atlas.

How well studied is Episodic Falling (EF) in dogs?

OMIA curates 11 peer-reviewed references for Episodic Falling (EF). The full, linked citation list is on this page.

Canine Mendelian disease record

Episodic Falling (EF)

Episodic Falling (EF). Autosomal recessive. Observed in 5 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,665 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.

OMIA identifier: OMIA:001592-9615
Inheritance: Autosomal recessive
Variant pathogenicity: Pathogenic
Source dataset: Sniff Atlas v1.0.1 / DOI

The Pathogenic grade describes the documented variant's causality, per the Animal Variant Classification Guidelines (AVCG; Boeykens et al. 2024, Front Vet Sci), an ACMG/AMP-style framework curated in OMIA. It grades the variant, not any individual dog. See the full classification table.

About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.

Summary

Renamed from 'Episodic falling' to 'Episodic falling, BCAN-related' [11/06/2024]

Clinical features

Episodic falling syndrome (EFS) in Cavalier King Charles Spaniels is characterised by episodes of ascending hypertonicity affecting the thoracic and pelvic limbs (Gill et al., 2012). Onset of the disease is between 14 weeks and 4 years of age, with varying frequency and severity (Gill et al., 2012). During an episode the dog is ultimately immobilised in a distinctive “deer-stalking” or “praying” position (Gill et al., 2012) and usually recovery of limb function takes 10 minutes (Wright et al., 1987). These episodes can be triggered by exercise, stress, apprehension, or excitement (Herrtage & Palmer, 1983). During exercise, the dogs fall while maintaining consciousness and without cyanosis (Gill et al., 2012). Facial muscle stiffening, stumbling, “bunny-hopping” gait, arching of the back or vocalisation may also be observed (Gill et al., 2012). Dogs present completely normal neurologically between the episodes (Herrtage and Palmer, 1983; Gill et al., 2012). [IT thanks DVM students Kiva Waugh and Samantha Su Yuen Lim, who provided the basis of this contribution in April 2022]

Molecular genetics

By sequencing the most likely positional candidate gene in the candidate region they had identified (see Mapping section), Gill et al. (2012) reported that this disorder in Cavalier King Charles Spaniels is due to a 15.7kb deletion in the BCAN gene, which encodes brain-specific extracellular matrix proteoglycan brevican. By sequencing 5 affected dogs within their candidate region (see Mapping section), Forman et al. (2012) reported the same mutation.

Pathology

Gill et al., 2012 report that "brevican has an essential role in the formation of perineuronal nets governing synapse stability and nerve conduction velocity". Mutations in this gene could therefore explain the observed EFS phenotype. EFS muscle usually appears normal under light microscopy, allowing exclusion of many congenital myopathies (Wright et al., 1987; Gill et al., 2012). Electron microscopy revealed dilation of the sarcoplasmic reticulum with finely granular material (Wright et al., 1987). Some dogs appeared to have completely normal mitochondria. However, in other dogs, there was selective damage such that some swollen mitochondria were interspersed between normal ones. The authors also noted proliferation of tubular structures as the predominant feature in some dogs. Gill et al. (2012) observed only swollen sarcoplasmic reticulum in muscle samples under electron microscopy, and considered this as a secondary change due to muscle overstimulation, further suggesting a CNS basis of the pathology. [IT thanks DVM students Kiva Waugh and Samantha Su Yuen Lim, who provided the basis of this contribution in April 2022]

Genetic testing

As explained on the web site of the Animal Health Trust (http://www.aht.org.uk/genetics_curleycoat.html), a DNA test for this disorder in Cavalier King Charles Spaniels was discovered by geneticists at the Trust in early 2011, and is available from the Trust. Their discovery was reported by Forman et al. (2012). As described under "Molecular basis", another research group independently discovered and published a causal mutation in 2012.

Human analog

OMIA links this condition to the human gene record in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Gene · OMIM 600347

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001592-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers. Showing 6 of 11.

Canine paroxysmal dyskinesia-a review. · Front Vet Sci · 2024 · PMID 39119350
An overview of canine inherited neurological disorders with known causal variants. · Animals (Basel) · 2023 · PMID 38003185
Dystonia in veterinary neurology. · J Vet Intern Med · 2022 · PMID 36086931
Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. · PLoS One · 2019 · PMID 30650096
Canine paroxysmal movement disorders. · Vet Clin North Am Small Anim Pract · 2014 · PMID 25441627
Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed. · PLoS Genet · 2012 · PMID 22253609

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Predict a litter

Set each parent's status for Episodic Falling (EF) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A

Parent B

NNClear

NmCarrier

mmAffected

Clear25%

Carrier50%

Affected25%

These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.

Your breed

See what Episodic Falling (EF) looks like in your dog's breed.

Carrier frequency by breed

Top 5 well-sampled breeds (n ≥ 50)

Maximum carrier frequency per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervals. The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

0%5%10%

Cavalier King Charles Spaniel6.7% · n 2,243

6.7%n 2,243

Cocker Spaniel0.11% · n 1,881

0.11%n 1,881

Shih Tzu<0.1% · n 7,527

<0.1%n 7,527

Pug<0.1% · n 5,154

<0.1%n 5,154

Golden Retriever<0.1% · n 12,881

<0.1%n 12,881

n = 29,686 dogs · Donner et al. 2023 carrier-screening cohort · Sniff Atlas

Each bar is one well-sampled breed; the whisker is its Wilson 95% CI, and fainter bars have wider intervals. Frequencies are population-level, not per-litter. Carrier status for Episodic Falling (EF) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Cavalier King Charles Spaniel	6.7%	[5.7%, 7.8%]	2,243
Cocker Spaniel	0.11%	[0.0%, 0.4%]	1,881
Shih Tzu	<0.1%	[0.0%, 0.1%]	7,527
Pug	<0.1%	[0.0%, 0.1%]	5,154
Golden Retriever	<0.1%	[0.0%, 0.0%]	12,881

261 additional breeds in the Donner 2023 cohort were tested but showed no carriers.

Penetrance

From genotype to phenotype

Carrier status is not the same as disease status. Penetrance is the fraction of at-risk dogs that develop the phenotype. The Donner 2023 S4 table tracks this for 1 variant(s) underlying this disease in the cohort.

At-risk dogs evaluated: 1
Phenotype confirmed: 0
Penetrance range: not yet quantifiable

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome is governed by penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

Sniff Atlas v1.0.1 for the per-breed carrier frequencies:
Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.
OMIA for the disease definition, inheritance, and gene assignment:
Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:001592-9615.
Donner et al. 2023 for the breed × variant carrier-frequency cohort:
Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Sniff Atlas v1.0.1, the source dataset for these frequencies.
Browse breeds, per-breed Mendelian profiles, including this disease in context.
OMIA entry OMIA:001592-9615, authoritative clinical reference.
About OMIA, the catalogue this record comes from, and how Sniff uses it.

Last updated June 20, 2026

Sources: Sniff Atlas v1.0.1 · OMIA OMIA:001592-9615 · Donner et al. 2023