TY - JOUR
T1 - Treatment of slow-channel congenital myasthenic syndrome in a Thai family with fluoxetine
AU - Dejthevaporn, Charungthai
AU - Wetchaphanphesat, Suppachok
AU - Pulkes, Teeratorn
AU - Rattanasiri, Sasivimol
AU - Engel, Andrew G.
AU - Witoonpanich, Rawiphan
N1 - Funding Information:
This work was supported by Research Grant from Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand (grant ID: RF_55024).
Funding Information:
This work was supported by Research Grant from Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand (grant ID: RF_55024). We are most grateful to Professor Gary Cutter from University of Alabama School of Public Health for his assistance in the statistical analysis. We are also thankful to Ms. Somlak Anwisat and Ms. Kanlaya Kaokhum for their help in the clinical neurophysiological study.
Publisher Copyright:
© 2021
PY - 2022/2
Y1 - 2022/2
N2 - The slow-channel congenital myasthenic syndrome is an autosomal dominant neuromuscular disorder caused by mutations in different subunits of the acetylcholine receptor. Fluoxetine, a common antidepressant and long-lived open-channel blocker of acetylcholine receptor, has been reported to be beneficial in the slow-channel congenital myasthenic syndrome. Here we report a prospective open label study of fluoxetine treatment in some affected members of a Thai family with slow-channel congenital myasthenic syndrome caused by a novel p.Gly153Ala (c.518G > C) mutation in CHRNA1 in the AChR α subunit. These patients showed significant clinical improvement following fluoxetine treatment but their respiratory function responded variably.
AB - The slow-channel congenital myasthenic syndrome is an autosomal dominant neuromuscular disorder caused by mutations in different subunits of the acetylcholine receptor. Fluoxetine, a common antidepressant and long-lived open-channel blocker of acetylcholine receptor, has been reported to be beneficial in the slow-channel congenital myasthenic syndrome. Here we report a prospective open label study of fluoxetine treatment in some affected members of a Thai family with slow-channel congenital myasthenic syndrome caused by a novel p.Gly153Ala (c.518G > C) mutation in CHRNA1 in the AChR α subunit. These patients showed significant clinical improvement following fluoxetine treatment but their respiratory function responded variably.
KW - Fluoxetine
KW - Slow-channel congenital myasthenic syndrome
KW - Thai
KW - Treatment
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U2 - 10.1016/j.jocn.2021.12.016
DO - 10.1016/j.jocn.2021.12.016
M3 - Article
C2 - 34999496
AN - SCOPUS:85122237680
SN - 0967-5868
VL - 96
SP - 85
EP - 89
JO - Journal of Clinical Neuroscience
JF - Journal of Clinical Neuroscience
ER -