Entry Name Familial advanced sleep phase syndrome
Description Familial advanced sleep phase syndrome (FASPS) is characterized by a stable sleep schedule with a 4-hour advance than the conventional or desired time. FASPS is associated with mutations in PER2, whose level oscillates with a nearly 24 hour period. Recently, it has been reported that FASPS is also caused by mutations in CSNK1D gene and PER3 gene.
Category Nervous system disease
Brite Human diseases in ICD-11 classification [BR:br08403 ] BRITE hierarchy Pathway Gene Other DBs Reference Authors Barion A
Title Circadian rhythm sleep disorders.
Journal Reference Authors Bjorvatn B, Pallesen S
Title A practical approach to circadian rhythm sleep disorders.
Journal Reference Authors Jones CR, Campbell SS, Zone SE, Cooper F, DeSano A, Murphy PJ, Jones B, Czajkowski L, Ptacek LJ
Title Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans.
Journal Reference Authors Toh KL, Jones CR, He Y, Eide EJ, Hinz WA, Virshup DM, Ptacek LJ, Fu YH
Title An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.
Journal Reference Authors Brennan KC, Bates EA, Shapiro RE, Zyuzin J, Hallows WC, Huang Y, Lee HY, Jones CR, Fu YH, Charles AC, Ptacek LJ
Title Casein kinase idelta mutations in familial migraine and advanced sleep phase.
Journal Reference Authors Zhang L, Hirano A, Hsu PK, Jones CR, Sakai N, Okuro M, McMahon T, Yamazaki M, Xu Y, Saigoh N, Saigoh K, Lin ST, Kaasik K, Nishino S, Ptacek LJ, Fu YH
Title A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait.
Journal Reference Authors Kurien P, Hsu PK, Leon J, Wu D, McMahon T, Shi G, Xu Y, Lipzen A, Pennacchio LA, Jones CR, Fu YH, Ptacek LJ
Title TIMELESS mutation alters phase responsiveness and causes advanced sleep phase.
Journal LinkDB All DBs
