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 NeurologySCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype
2015, Neuromuscular DisordersCitation Excerpt :More specifically the most prominent effects caused by P72L mutation were a hyperpolarized shift of the voltage dependence of activation, a slower recovery of fast inactivation, a slower kinetic of entry in the slow inactivation, and a destabilized steady state of the slow inactivation. The shift of the voltage dependence of activation increases excitability of the cell decreasing the threshold for action potential and has been reported in previous SCN4A mutations causing hyperkaliemic periodic paralysis or sodium channel myotonia [16,17]. Since slow inactivation may have a role in determining the presence of a myotonic or a paralytic phenotype [11,18], we investigated the development, the steady state and the recovery of slow inactivation caused by P72L substitution.
Post-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
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