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Inherited ion channel disorders.
Surtees R. Surtees R. Eur J Pediatr. 2000 Dec;159 Suppl 3:S199-203. doi: 10.1007/pl00014403. Eur J Pediatr. 2000. PMID: 11216900 Review.
These disorders include skeletal muscle sodium channelopathies causing hyperkalaemic periodic paralysis, paramyotonia congenita and potassium-aggravated myotonia. Skeletal muscle calcium channelopathies can cause hypokalaemic periodic paralysis, malignant hyp …
These disorders include skeletal muscle sodium channelopathies causing hyperkalaemic periodic paralysis, paramyotonia congenita and potas …
What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.
Matthews E, Tan SV, Fialho D, Sweeney MG, Sud R, Haworth A, Stanley E, Cea G, Davis MB, Hanna MG. Matthews E, et al. Neurology. 2008 Jan 1;70(1):50-3. doi: 10.1212/01.wnl.0000287069.21162.94. Neurology. 2008. PMID: 18166706
Unexpectedly, 3 of these subjects harbored mutations previously described with potassium-aggravated myotonia (G1306A, G1306E). We identified two new mutations (R1448L and L1436P). ...
Unexpectedly, 3 of these subjects harbored mutations previously described with potassium-aggravated myotonia (G1306A, G …
A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.
Benhammou JN, Phan J, Lee H, Ghassemi K, Parsons W, Grody WW, Pisegna JR. Benhammou JN, et al. J Mol Neurosci. 2017 Mar;61(3):312-314. doi: 10.1007/s12031-016-0878-5. Epub 2016 Dec 23. J Mol Neurosci. 2017. PMID: 28012096 Free PMC article.
The voltage gated sodium channel SCN4A mutations account for non-dystrophic myotonia and include a heterogeneous group of conditions that include hyperkalemic periodic paralysis, paramyotonica congenita, potassium-aggravated myotonia, and hypokalemic periodic …
The voltage gated sodium channel SCN4A mutations account for non-dystrophic myotonia and include a heterogeneous group of conditions that in …