Neuron
ArticleMutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
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2020, Journal of Clinical NeuroscienceCitation Excerpt :The HypoKPP is inherited in an autosomal-dominant manner, and most of the individuals have a family history of the disorder. The majority of HypoKPP cases are caused by two mutations in the calcium channel CACNA1S gene: R528H and R1239H [6,10,11]. Other mutations seen with this disorder belong to two genes: SCN4A and KCNJ18.
Skeletal Muscle Channelopathies
2018, NeurotherapeuticsGenetics update: Monogenetics, polygene disorders and the quest for modifying genes
2018, NeuropharmacologyA novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype
2017, Neuromuscular DisordersCitation Excerpt :To test the functional significance of the p.Ile1455Thr variant, we performed whole cell patch-clamp recordings in a heterologous expression system. We compared our results to functional and phenotypic studies of variants in, or very close to, the S4 segment of the voltage sensor of domain 4 of NaV1.4 (Val1442Glu, Arg1448Leu/His/Cys/Pro/Ser, Arg1454Trp, Gly1456Glu, Arg1457His) [1,2,21–31]. All functionally examined variants in the heterozygous state cause a PMC phenotype while in the homozygous or compound heterozygous state they cause a congenital recessive myasthenic syndrome (Val1442Glu, Arg1454Trp, Arg1457His).
Physiology and Pathophysiology of Sodium Channel Inactivation
2016, Current Topics in MembranesClinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review
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