
Narcolepsy 7: Hypocretin, Cataplexy and Genetic Causes
Too little hypocretin leaves the sleep-wake cycle unregulated, bringing daytime sleepiness, cataplexy, sleep paralysis and hallucinations in this genetic subtype.

MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.

Too little hypocretin leaves the sleep-wake cycle unregulated, bringing daytime sleepiness, cataplexy, sleep paralysis and hallucinations in this genetic subtype.

Heavy protein loss, low albumin and swelling define this kidney disorder, and finding a mutation tied to steroid resistance can steer care toward other treatments.

Caused by BANF1 mutations, this progeroid condition brings premature aging with a longer lifespan than HGPS, while cardiovascular complications remain a shared concern.

Unlock insights into NBIA4, a rare brain disorder. Genetic testing aids early diagnosis, personalized treatment, and informed family planning for better outcomes.

Sensation in the extremities fades as sensory neurons are lost in HSAN2C; its autosomal recessive pattern and a reported TECPR2 variant are both covered.

Abnormal development of the occipital lobe can bring intellectual disability, motor dysfunction and childhood-onset seizures. LAMC3 variants and testing are examined.

Unlike collagen-linked forms, OI Type 6 arises from genes governing bone mineralization, TMEM38B among them, so testing is what separates it from other subtypes.

A homozygous BMP15 mutation impairs BMP signaling and ovarian development, causing the primary amenorrhea and infertility seen in ovarian dysgenesis 3.