I228M produced a trend toward an increase in the proportion of spontaneously firing cells (4 of 18 [22%] vs 3 of 20 [15%] for cells transfected with WT channels) that did not reach statistical significance; mean frequency of spontaneous activity in cells transfected with I228M was 0.2 ± 0.05 Hz (n = 4).
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Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7.
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