title: Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol.
abstract: BACKGROUND
  Slow channel congenital myasthenic syndrome is a dominant disorder characterized by prolonged acetylcholine receptor ion-channel activation.
  
  
  METHODS
  Molecular genetic techniques, electrophysiology, and binding studies in human embryonic kidney (HEK) 293 cells determined mutant function and expression levels. Patient response to treatment was measured by quantitative myasthenic gravis and Medical Research Council grade strength scores.
  
  
  RESULTS
  We report an unusual case due to heteroallelic mutations in CHRNE. The slow channel mutation, p.εS278del, is accompanied by a severe low-expression mutation, p.εR217L, on the second allele. Expression studies and cosegregation of p.εS278del with the disorder in the patient's offspring demonstrate robust expression of the p.εS278del mutation. The patient showed modest benefits from standard treatment with fluoxetine, but there was dramatic improvement when salbutamol was combined with fluoxetine.
  
  
  CONCLUSIONS
  This case suggests that salbutamol, which is beneficial in some other congenital myasthenic syndromes, might also be considered in addition to fluoxetine in slow channel syndrome.
authors.affiliation: Neuroscience Group, Weatherall Institute of Molecular Medicine, The John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK.
authors.forename: Sarah
authors.initials: S
authors.lastname: Finlayson
authors.forename: Jennifer
authors.initials: J
authors.lastname: Spillane
authors.forename: Dimitri M
authors.initials: DM
authors.lastname: Kullmann
authors.forename: Robin
authors.initials: R
authors.lastname: Howard
authors.forename: Richard
authors.initials: R
authors.lastname: Webster
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Palace
authors.forename: David
authors.initials: D
authors.lastname: Beeson
mesh_terms: D058666:Adrenergic beta-2 Receptor Agonists / Q000627:therapeutic use*; D000420:Albuterol / Q000627:therapeutic use*; D004359:Drug Therapy, Combination; D005473:Fluoxetine / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020294:Myasthenic Syndromes, Congenital / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D017367:Selective Serotonin Reuptake Inhibitors / Q000627:therapeutic use*; D016896:Treatment Outcome
chemical_list: D058666:Adrenergic beta-2 Receptor Agonists; D000420:Albuterol; D005473:Fluoxetine; D017367:Selective Serotonin Reuptake Inhibitors