Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians

Mutations of SCN4A gene cause different diseases: 2 case reports and literature review

“…Similarly, patients with V445M showed severe generalized painful myotonia with severe muscle hypertrophy in French-Canadians. 16 Our patient and her affected relatives manifested no pains clinically, which is different from previous report. In 2009, Bradley reported extraocular muscle hypertrophy and myotonia, in addition to eyelid myotonia, in a father and son with a mutation in SCN4A gene (V445M).…”

Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita

“…Higher rates induce higher values of TD but also greater discomfort, and for this reason the duration of RNS, usually delivered at a rate of 10 Hz, can hardly exceed 5 s (Deymeer et al, 1998;Colding-Jorgensen et al, 2003;Dupré et al, 2009;Michel et al, 2007). Such a short train of stimuli does not guarantee the detection of the maximum inducible TD, i.e., TDN, for that rate.…”

Novel N‐terminal truncating CLCN1 mutation in severe becker disease

“…As mexiletine is not available in Germany, intervention with gabapentin (GBT) was initiated 9 . GBT caused major side effects and provided no symptom relief.…”