Affected gene: BCAN
Inheritance: Autosomal recessive
Mutation: CanFam3.1   chr7  g.41325010_41340731delinsAAGGCC  (15.7kb deletion in the BCAN gene removing the first 3 exons)
OMIA:001592-9615

Appropriate breed for testing: Cavalier King Charles Spaniel

Symptoms:
Episodic Falling Syndrome (EFS) in Cavalier King Charles Spaniels is characterized by episodes of hypertonia affecting the limbs. Onset is between 14 weeks and 4 years, with variable frequency and severity. Seizures last around 10 minutes and are triggered by exercise, stress, apprehension or excitement. Between episodes, dogs present a completely normal neurological state.

References:
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.
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. : A canine BCAN microdeletion associated with episodic falling syndrome. Neurobiol Dis 45:130-6, 2012. Pubmed reference: 21821125. DOI: 10.1016/j.nbd.2011.07.014.