Narcolepsy

Chronic neurological disorder involving the loss of the brain's ability to regulate sleep-wake cycles normally

Symptoms
Excessive daytime sleepiness, cataplexy (sudden loss of muscle tone without loss of consciousness) triggered by emotions

Gene involved
HCRTR2

Mutation tested
c.160G>A

Transmission mode : Autosomal recessive

Publication : Hungs et al. (2001). Identification and functional analysis of mutations in the hypocretin (orexin) genes of narcoleptic canines.

Gene involved
HCRTR2

Mutation tested
c.1103+5G>A

Transmission mode : Autosomal recessive

Publication : Lin et al. (1999). The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene.