Rare missense mutations in P2RY11 in narcolepsy with cataplexy

Brain

Volumn 140, Issue 6, 2017, Pages 1657-1668

  Degn, Matilda ^a   Dauvilliers, Yves ^b   Dreisig, Karin ^a   Lopez, Regis ^b   Pfister, Corinne ^c   Pradervand, Sylvain ^d   Kornum, Birgitte Rahbek ^a   Tafti, Mehdi ^c,e  

^a University of Copenhagen   (Denmark)

^b GUI DE CHAULIAC HOSPITAL   (France)

^c UNIVERSITY OF LAUSANNE   (Switzerland)

^d UNIVERSITY OF LAUSANNE   (Switzerland)

^e LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

Genetics; Hypersomnias; Inflammation; Narcolepsy; Whole exome sequencing

Indexed keywords

CALCIUM; CALCIUM ION; CYCLIC AMP; HLA DQB1 ANTIGEN; MESSENGER RNA; PURINERGIC P2Y11 RECEPTOR; P2RY11 PROTEIN, HUMAN; PURINERGIC P2 RECEPTOR;

ADOLESCENT; ADULT; AGED; ARTICLE; BODY MASS; CATAPLEXY; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CONTROLLED STUDY; DAYTIME SOMNOLENCE; EPWORTH SLEEPINESS SCALE; EXON; FEMALE; GENOTYPE; HEK293 CELL LINE; HUMAN; LYMPHOCYTE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NARCOLEPSY; ONSET AGE; POLYSOMNOGRAPHY; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS; T LYMPHOCYTE; WHOLE EXOME SEQUENCING; GENETICS; MIDDLE AGED; PATHOPHYSIOLOGY; PEDIGREE;

ADULT; CATAPLEXY; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NARCOLEPSY; PEDIGREE; RECEPTORS, PURINERGIC P2; SIGNAL TRANSDUCTION;

EID: 85022082343     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awx093     Document Type: Article

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