abnormal muscle gating pore sodium currents

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Valerie Hinard's Comments: Dear MGI experts,

Using a lot the Mammalian Phenotype to annotate proteins into the nextprot database, I would like to suggest a new phenotype in the domain of the muscle electrical activity: "the abnormal muscle gating pore sodium currents". Would you agree to add it?

This phenotype appears in mutated organism and is responsible for hypokalaemic periodic paralysis in humans.

Those mutations change the biophysical properties of the voltage-gated sodium channel Nav1.4 and create an abnormal large sodium current called "gating pore current". PMID:24549961

NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

So I suggest:

MP term: abnormal muscle gating pore sodium currents

Synonym: abnormal gating pore currents

Definition: anomaly in the electrical currents produced by muscle sodium ion channels, typically measured using whole-cell patch-clamp techniques

And it could be a child of "abnormal muscle electrophysiology" MP:0004145.

Waiting for your answer,

Thank you

Valerie Hinard

Ref:MSG063028

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some references: http://www.tandfonline.com/doi/full/10.1080/19336950.2015.1031937 http://jgp.rupress.org/content/145/2/93.full http://www.sciencedirect.com/science/article/pii/S0896627305005179 Definition from the last article: " non-sodium-selective cation current that is unaffected by the pore blocker tetrodotoxin (TTX) and therefore represents ion movement through a permeation pathway in domain II rather than through the central pore" see also http://www.ncbi.nlm.nih.gov/pubmed/25382261 From what I can tell these currents are always abnormal. New term: muscle gating pore current MP:0020381