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Episodic Falling
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Episodic Falling
OMIA
1592
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
Test Type
Genetic Disease/Disorder
Details
Episodic falling is a neurological condition, induced by exercise, excitement or frustration, in which muscle tone increases. This means the dog is unable to relax its muscles, becomes rigid and falls over. Affected dogs usually start to demonstrate clinical signs before one year of age, with most cases having their first episode aged four to seven months. (from AHT, 2018) Not to be confused with simmilar appearing epilepsy.
Details 2
Episodic falling is a neurological condition, induced by exercise, excitement or frustration, in which muscle tone increases. This means the dog is unable to relax its muscles, becomes rigid and falls over. Affected dogs usually start to demonstrate clinical signs before one year of age, with most cases having their first episode aged four to seven months. (from AHT, 2018) Not to be confused with simmilar appearing epilepsy.
Published
Gill,J.L.,Tsai,K.L.,Krey,C.,Noorai,R.E.,Vanbellinghen,J.F.,Garosi,L.S.,Shelton,G.D.,Clark,L.A.,Harvey,R.J.: AcanineBCANmicrodeletionassociatedwithepisodicfallingsyndrome.NeurobiolDis45:130-6,2012.Pubmedreference:21821125.DOI:10.1016/j.nbd.2011.07.014.
Published 2
Forman, O.P., Penderis, J., Hartley, C., Hayward, L.J., Ricketts, S.L., Mellersh, C.S. : Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed. PLoS Genet 8:e1002462, 2012. Pubmed reference: 22253609. DOI: 10.1371/journal.pgen.1002462.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Breed-specific 1
Cavalier King Charles Spaniel
Breed-specific 1 Details
Publication demonstrated strong association between mutation and disease. No functional evidence provided. Forman et al., (2012) Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed. PLoS Genetics, 8, e1002462.
Breed-specific 2
Australian Cobberdog, Australian Labradoodle
Breed-specific 2 Details
unpublished
