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 - 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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UR - http://www.scopus.com/inward/citedby.url?scp=85122237680&partnerID=8YFLogxK
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 -