| 1 |
35453812 | Kinetic Alterations in Resurgent Sodium Currents of Mutant Nav1.4 Channel in Two Patients Affected by Paramyotonia Congenita. | 2022 Apr 18 |
1 |
| 2 |
33345742 | The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis. | 2021 Dec |
1 |
| 3 |
33450052 | The mechanism of non-blocking inhibition of sodium channels revealed by conformation-selective photolabeling. | 2021 Mar |
1 |
| 4 |
33670307 | Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients. | 2021 Feb 11 |
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| 5 |
33762787 | Sodium Channel Myotonia and a Novel Gly701Asp Mutation in the SCN4A Gene: From an Ophthalmological Symptom to a Familial Disease. | 2021 |
2 |
| 6 |
33965302 | Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations. | 2021 Sep |
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| 7 |
34378097 | p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome. | 2021 Dec |
2 |
| 8 |
34416509 | Quinazolinone dimers as a potential new class of safer Kv1 inhibitors: Overcoming hERG, sodium and calcium channel affinities. | 2021 Oct |
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| 9 |
34671263 | New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases. | 2021 |
3 |
| 10 |
34852780 | Improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel. | 2021 Dec 1 |
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| 11 |
31738900 | Substituted cysteine scanning in D1-S6 of the sodium channel hNav1.4 alters kinetics and structural interactions of slow inactivation. | 2020 Feb 1 |
1 |
| 12 |
32205118 | Safinamide's potential in treating nondystrophic myotonias: Inhibition of skeletal muscle voltage-gated sodium channels and skeletal muscle hyperexcitability in vitro and in vivo. | 2020 Jun |
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| 13 |
32276507 | Changes of Resurgent Na+ Currents in the Nav1.4 Channel Resulting from an SCN4A Mutation Contributing to Sodium Channel Myotonia. | 2020 Apr 8 |
6 |
| 14 |
32407401 | Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation. | 2020 |
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| 15 |
32411069 | Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4. | 2020 |
3 |
| 16 |
32509969 | Sodium channel myotonia may be associated with high-risk brief resolved unexplained events. | 2020 |
1 |
| 17 |
32619119 | Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis. | 2020 Nov |
1 |
| 18 |
32962503 | Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing. | 2020 Sep |
1 |
| 19 |
33488393 | Toward Biological Pacing by Cellular Delivery of Hcn2/SkM1. | 2020 |
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| 20 |
30824560 | Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4. | 2019 Mar 26 |
2 |
| 21 |
31609695 | A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies. | 2019 |
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| 22 |
31732390 | De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure. | 2019 Nov |
3 |
| 23 |
28939973 | Sodium Channelopathies of Skeletal Muscle. | 2018 |
3 |
| 24 |
29606556 | Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands. | 2018 May |
1 |
| 25 |
29946067 | Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4. | 2018 Jun 26 |
1 |
| 26 |
29774303 | Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life. | 2017 Sep |
1 |
| 27 |
25660391 | SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype. | 2015 Apr |
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| 28 |
25735906 | New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene. | 2015 Oct |
3 |
| 29 |
24939454 | Focal and abnormally persistent paralysis associated with congenital paramyotonia. | 2014 Jun 17 |
2 |
| 30 |
25088311 | Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia. | 2014 Nov |
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| 31 |
23417379 | Double trouble in a patient with myotonia. | 2013 Feb 14 |
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| 32 |
22617007 | A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis. | 2012 Jun 21 |
3 |
| 33 |
21204798 | Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene. | 2011 Dec |
1 |
| 34 |
20038812 | Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents. | 2010 Jan |
4 |
| 35 |
18203179 | Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. | 2008 Feb 1 |
2 |
| 36 |
16713241 | Recombinant human voltage-gated skeletal muscle sodium channels are pharmacologically functional in planar lipid bilayers. | 2007 Jan 15 |
2 |
| 37 |
17638382 | Individual variation and hormonal modulation of a sodium channel beta subunit in the electric organ correlate with variation in a social signal. | 2007 Sep 1 |
1 |
| 38 |
15642860 | Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family. | 2005 Jan |
1 |
| 39 |
15596759 | New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. | 2004 Dec 14 |
1 |
| 40 |
14557559 | Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis. | 2003 Oct 14 |
1 |
| 41 |
12390967 | Novel CLCN1 mutations with unique clinical and electrophysiological consequences. | 2002 Nov |
1 |
| 42 |
12483017 | A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies. | 2002 Dec |
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| 43 |
11294924 | A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation. | 2001 Apr 10 |
1 |
| 44 |
10851391 | Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis. | 2000 Jun 13 |
2 |
| 45 |
10944223 | Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. | 2000 Aug 15 |
1 |
| 46 |
10218481 | Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia. | 1999 Apr 9 |
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| 47 |
10599760 | A novel sodium channel mutation in a family with hypokalemic periodic paralysis. | 1999 Dec 10 |
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| 48 |
9130156 | Human Na+ channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis oocytes. | 1997 Mar 15 |
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| 49 |
9276478 | Myotonic dystrophy kinase modulates skeletal muscle but not cardiac voltage-gated sodium channels. | 1997 Aug 4 |
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| 50 |
9392583 | A novel muscle sodium channel mutation causes painful congenital myotonia. | 1997 Nov |
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