Affected Gene: GLRA1
Transmission: Autosomal recessive
Mutation: UU_Cfam_GSD_1.0 4 g.58338954_58338989 del36 bp
OMIA Link: 000689-9615

Breeds Recommended for Testing:
Australian Shepherd, Miniature Australian Shepherd

Symptoms:
Hyperekplexia (Startle Disease) is a hereditary neurodegenerative disorder. The first symptoms, such as tremors and the inability to stand, appear 5 to 7 days after birth.

References:
Heinonen, T., Flegel, T., Müller, H., Kehl, A., Hundi, S., Matiasek, K., Fischer, A., Donner, J., Forman, O.P., Lohi, H., Hytönen, M.K. (2023).
A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia.
Human Genetics, 142, 1221-1230.
PubMed reference: 37222814
DOI: 10.1007/s00439-023-02571-z