Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

Neuron ◽  
1992 ◽  
Vol 8 (5) ◽  
pp. 891-897 ◽  
Author(s):  
Louis J. Ptáček ◽  
Alfred L. George ◽  
Robert L. Barchi ◽  
Robert C. Griggs ◽  
Jack E. Riggs ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Paramyotonia Congenita ◽  
Adult Skeletal Muscle ◽  
S4 Segment

scholarly journals A Novel Mutation in the Gene for the Adult Skeletal Muscle Sodium Channel α-Subunit (SCN4A) That Causes Paramyotonia Congenita of von Eulenburg

1999 ◽  
Vol 56 (6) ◽  
pp. 692 ◽  
Author(s):  
Ryogen Sasaki ◽  
Hiroki Takano ◽  
Keiko Kamakura ◽  
Kenichi Kaida ◽  
Akira Hirata ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Novel Mutation ◽  
Paramyotonia Congenita ◽  
Adult Skeletal Muscle ◽  
Α Subunit

Sequence and genomic structure of the human adult skeletal muscle sodium channel α subunit gene on 17q

1992 ◽  
Vol 182 (2) ◽  
pp. 794-801 ◽  
Author(s):  
Jianzhou Wang ◽  
Cecilia V. Rojas ◽  
Jianhua Zhou ◽  
Lisa S. Schwartz ◽  
Hugh Nicholas ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Genomic Structure ◽  
Subunit Gene ◽  
Adult Skeletal Muscle ◽  
Α Subunit ◽  
Human Adult

scholarly journals Resting Potential–dependent Regulation of the Voltage Sensitivity of Sodium Channel Gating in Rat Skeletal Muscle In Vivo

2005 ◽  
Vol 126 (2) ◽  
pp. 161-172 ◽  
Author(s):  
Gregory N. Filatov ◽  
Martin J. Pinter ◽  
Mark M. Rich
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Voltage Dependence ◽  
Channel Gating ◽  
Resting Potential ◽  
Sodium Currents ◽  
Fast Inactivation ◽  
Adult Skeletal Muscle ◽  
Muscle Excitability

Normal muscle has a resting potential of −85 mV, but in a number of situations there is depolarization of the resting potential that alters excitability. To better understand the effect of resting potential on muscle excitability we attempted to accurately simulate excitability at both normal and depolarized resting potentials. To accurately simulate excitability we found that it was necessary to include a resting potential–dependent shift in the voltage dependence of sodium channel activation and fast inactivation. We recorded sodium currents from muscle fibers in vivo and found that prolonged changes in holding potential cause shifts in the voltage dependence of both activation and fast inactivation of sodium currents. We also found that altering the amplitude of the prepulse or test pulse produced differences in the voltage dependence of activation and inactivation respectively. Since only the Nav1.4 sodium channel isoform is present in significant quantity in adult skeletal muscle, this suggests that either there are multiple states of Nav1.4 that differ in their voltage dependence of gating or there is a distribution in the voltage dependence of gating of Nav1.4. Taken together, our data suggest that changes in resting potential toward more positive potentials favor states of Nav1.4 with depolarized voltage dependence of gating and thus shift voltage dependence of the sodium current. We propose that resting potential–induced shifts in the voltage dependence of sodium channel gating are essential to properly regulate muscle excitability in vivo.

A skeletal muscle sodium channel mutation in a Japanese family with paramyotonia congenita

1995 ◽  
Vol 133 (1-2) ◽  
pp. 192-193 ◽  
Author(s):  
Takeshi Yamada ◽  
Hirofumi Ochi ◽  
Hideo Hara ◽  
Takeo Yoshimura ◽  
Takuro Kobayashi
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Japanese Family ◽  
Paramyotonia Congenita ◽  
Channel Mutation ◽  
Sodium Channel Mutation

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

Cell ◽  
1992 ◽  
Vol 68 (4) ◽  
pp. 769-774 ◽  
Author(s):  
Andrea I. McClatchey ◽  
Peter Van den Bergh ◽  
Margaret A. Pericak-Vance ◽  
Wendy Raskind ◽  
Christine Verellen ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Temperature Sensitive ◽  
Cytoplasmic Loop ◽  
Paramyotonia Congenita ◽  
Channel Gene ◽  
Sodium Channel Gene ◽  
Loop Region

scholarly journals N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita

2017 ◽  
Vol 595 (22) ◽  
pp. 6837-6850 ◽  
Author(s):  
Qing Ke ◽  
Jia Ye ◽  
Siyang Tang ◽  
Jin Wang ◽  
Benyan Luo ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Human Skeletal Muscle ◽  
Paramyotonia Congenita
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