title: A female with Coffin-Lowry syndrome and "cataplexy".
abstract: Coffin-Lowry syndrome (CLS) is an X-linked semidominant condition, caused by mutations in the gene encoding the ribosomal protein S6 kinase-2 (RSK-2), a growth factor regulating protein kinase, which is mapped to Xp 22.2. The syndrome is mainly seen in males. It is manifested by moderate to severe mental retardation and characteristic facial, hand and skeletal malformations. We present a female patient with fully manifested CLS, confirmed by molecular analysis, who experienced daily drop episodes, diagnosed as "cataplexy". The episodes were precipitated by emotional or auditory stimuli and were significantly reduced, by selective serotonine re-uptake inhibitors.
authors.affiliation: Medical Genetics, University of Athens School of Medicine, Aghia Sophia Children's Hospital, Athens, Greece. efrysira@cc.uoa.gr
authors.forename: H
authors.initials: H
authors.lastname: Fryssira
authors.forename: S
authors.initials: S
authors.lastname: Kountoupi
authors.forename: J P
authors.initials: JP
authors.lastname: Delaunoy
authors.forename: L
authors.initials: L
authors.lastname: Thomaidis
mesh_terms: D000293:Adolescent; D002385:Cataplexy / Q000188:drug therapy / Q000473:pathology*; D038921:Coffin-Lowry Syndrome / Q000235:genetics / Q000473:pathology*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D038744:Ribosomal Protein S6 Kinases, 90-kDa / Q000235:genetics; D017367:Selective Serotonin Reuptake Inhibitors / Q000627:therapeutic use
chemical_list: D038744:Ribosomal Protein S6 Kinases, 90-kDa; D017367:Selective Serotonin Reuptake Inhibitors; C069330:ribosomal protein S6 kinase, 90kDa, polypeptide 3