Comparison
Acetazolamide treatment
Design
Case report
Key result
Acetazolamide treatment yielded an excellent clinical response in a child with sodium channel myotonia caused by a novel Ile239Thr mutation in the SCN4A gene.
Authors
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Acetazolamide may be trialed cautiously in SCN4A myotonia; hypothesis-generating for the novel Ile239Thr mutation.
Case Report (n=1)
Acetazolamide can be an effective and safe treatment for sodium channel myotonia caused by a novel Ile239Thr mutation in the SCN4A gene.
Yadav et al. (2024) conducted a case report in Sodium channel myotonia (n=1). Acetazolamide was evaluated on Clinical response. Acetazolamide treatment yielded an excellent clinical response in a child with sodium channel myotonia caused by a novel Ile239Thr mutation in the SCN4A gene.