Neuron
ArticleFunctional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis
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In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis
2020, Clinical NeurophysiologyCitation Excerpt :Early studies (prior to the successful expression of human NaV1.4) using heterologous expression of rat NaV1.4 containing mutations corresponding to the human T704M and M1592V, demonstrated a disruption in fast inactivation leading to an increase in persistent non-inactivating sodium currents which allowed sodium current to flow even after tens of milliseconds (Cannon and Strittmatter, 1993). Another early study also using the rat homologue of the T704M mutation found a shift of the voltage dependence of activation in the negative, hyperpolarised direction (Cummins et al., 1993). Subsequent studies of human Nav1.4 channels with the T704M and M1592V mutations however, found no impairment of fast inactivation (Yang et al., 1994; Bendahhou et al., 1999; Rojas et al., 1999; Hayward et al., 1999), but did find a shift of activation in the hyperpolarised direction by 5–10 mV, and a shift of the midpoint of the slow inactivation curve in the depolarised direction.
Periodic paralysis
2018, Handbook of Clinical NeurologyCitation Excerpt :The predominant phenotype can vary even within families with the same SCN4A variant (McClatchey et al., 1992). Mutations in SCN4A causing HyperPP affect the gating behavior of this channel and produce gain-of-function defects characterized by impaired inactivation (Cannon et al., 1991; Cummins and Sigworth, 1996) and/or an enhancement of activation (Cummins et al., 1993). The resultant aberrant persistent Na+ current predisposes to prolonged attacks of depolarization-induced paralysis.
SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype
2015, Neuromuscular DisordersPost-exercise increment in compound muscle action potential amplitude in hyperkalemic periodic paralysis
2014, Clinical NeurophysiologyChannelopathies of Skeletal Muscle Excitability
2012, Muscle: Fundamental Biology and Mechanisms of DiseaseChannelopathies of skeletal muscle excitability
2012, Muscle