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October 1, 1993The Journal of PhysiologyOpen Access

Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III‐IV linker.

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Population

Three families with a form of myotonia clinically distinct from previously classified myotonias

Comparison

SCN4A gene mutations vs Normal controls

Design

Preclinical

Authors

HLHolger LercheUniversity Children's Hospital TübingenRHR HeineUniversity of North Carolina at Chapel HillUPUrsula PikaUniversität Ulm

Discussion

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Implication

SCN4A-mutant models link Na kinetics to myotonia; hypothesis-generating, no clinical translation yet.

Structured PICO

P
Population
Three families with a form of myotonia (muscle stiffness due to membrane hyperexcitability) clinically distinct from previously classified myotonias
I
Intervention
SCN4A gene mutations (substitution of glutamic acid, valine or alanine for glycine1306)
C
Comparator
Normal controls
O
Outcome
Na+ channel inactivation time constant (tau h) and late channel openingssurrogate

Mutations in the SCN4A gene substituting glycine1306 cause slowed Na+ channel inactivation and membrane hyperexcitability, leading to myotonia.

Cite This Study

Lerche et al. (1993) studied this question.

synapsesocial.com/papers/6a6fc4e35671bbf00bc29abchttps://doi.org/10.1113/jphysiol.1993.sp019843
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Loss of Na+ channel inactivation by anemone toxin (ATX II) mimics the myotonic state in hyperkalaemic periodic paralysis.1993 · 78 citations
  2. 2Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis1993 · 129 citations
  3. 3Genomic Organization of the Human Skeletal Muscle Sodium Channel Gene1993 · 58 citations
  4. 4Hyperkalemic Periodic Paralysis and the Adult Muscle Sodium Channel α-Subunit Gene1990 · 306 citations