Research & Literature

Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.

Ronstedt K, Sternberg D, Detro-Dassen S, et al.

Scientific reports 2015; (5()):15382 doi:10.1038/srep15382.

Aerobic training in myotonia congenita: Effect on myotonia and fitness.

Andersen G, Løkken N, Vissing J

Muscle & nerve 2017; (56(4)):696-699 doi:10.1002/mus.25549.

Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletine in myotonia congenita.

Ginanneschi F, Mignarri A, Lucchiari S, et al.

Neurophysiologie clinique = Clinical neurophysiology 2017; (47(3)):247-252 doi:10.1016/j.neucli.2017.01.003.

Open-label trial of ranolazine for the treatment of myotonia congenita.

Arnold WD, Kline D, Sanderson A, et al.

Neurology 2017; (89(7)):710-713 doi:10.1212/WNL.0000000000004229.

The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study.

Andersen G, Hedermann G, Witting N, et al.

Brain : a journal of neurology 2017; (140(9)):2295-2305 doi:10.1093/brain/awx192.

Persistence of a Posaconazole-Mediated Drug-Drug Interaction With Ranolazine After Cessation of Posaconazole Administration: Impact of Obesity and Implications for Patient Safety.

Chow CR, Harmatz JS, Ryan MJ, Greenblatt DJ

Journal of clinical pharmacology 2018; (58(11)):1436-1442 doi:10.1002/jcph.1257.

A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient.

Miao J, Wei XJ, Liu XM, et al.

BMC neurology 2018; (18(1)):154 doi:10.1186/s12883-018-1153-x.

Elevation of extracellular osmolarity improves signs of myotonia congenita in vitro: a preclinical animal study.

Hoppe K, Chaiklieng S, Lehmann-Horn F, et al.

The Journal of physiology 2019; (597(1)):225-235 doi:10.1113/JP276528.

Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials.

Stunnenberg BC, Raaphorst J, Groenewoud HM, et al.

JAMA 2018; (320(22)):2344-2353 doi:10.1001/jama.2018.18020.

Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.

Milla CP, De Castro CP, Gómez-González C, et al.

Journal of genetics 2019; (98()).

The needle EMG findings in myotonia congenita.

Nojszewska M, Lusakowska A, Gawel M, et al.

Journal of electromyography and kinesiology : official journal of the International Society of Electrophysiological Kinesiology 2019; (49()):102362 doi:10.1016/j.jelekin.2019.102362.

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita.

Orsini C, Petillo R, D'Ambrosio P, et al.

Frontiers in neurology 2020; (11()):63 doi:10.3389/fneur.2020.00063.

Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita.

Jeng CJ, Fu SJ, You CY, et al.

Frontiers in neurology 2020; (11()):76 doi:10.3389/fneur.2020.00076.

Myotonic disorders and pregnancy.

Morton A

Obstetric medicine 2020; (13(1)):14-19 doi:10.1177/1753495X18824238.

Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant.

Avila-Smirnow D, Vargas Leal CP, Beytía Reyes MLA, et al.

Neuromuscular disorders : NMD 2020; (30(7)):554-561 doi:10.1016/j.nmd.2020.04.006.

Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias.

Modoni A, D'Amico A, Primiano G, et al.

Frontiers in neurology 2020; (11()):300 doi:10.3389/fneur.2020.00300.

Treatment Updates for Neuromuscular Channelopathies.

Jitpimolmard N, Matthews E, Fialho D

Current treatment options in neurology 2020; (22(10)):34 doi:10.1007/s11940-020-00644-2.

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.

Maggi L, Brugnoni R, Canioni E, et al.

Frontiers in neurology 2020; (11()):646 doi:10.3389/fneur.2020.00646.

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report.

Sparber P, Sharova M, Filatova A, et al.

BMC medical genetics 2020; (21(Suppl 1)):197 doi:10.1186/s12881-020-01128-5.

Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.

Vereb N, Montagnese F, Gläser D, Schoser B

Journal of neurology 2021; (268(5)):1708-1720 doi:10.1007/s00415-020-10328-1.

Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita.

Souza LS, Calyjur P, Ribeiro AF, et al.

Journal of molecular neuroscience : MN 2021; (71(11)):2275-2280 doi:10.1007/s12031-020-01785-4.

Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia.

Locci S, Cardani R, Brunori P, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021; (42(12)):5365-5368 doi:10.1007/s10072-021-05538-y.

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.

Suetterlin K, Matthews E, Sud R, et al.

Brain : a journal of neurology 2022; (145(2)):607-620 doi:10.1093/brain/awab344.

Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study.

Vicart S, Franques J, Bouhour F, et al.

Neuromuscular disorders : NMD 2021; (31(11)):1124-1135 doi:10.1016/j.nmd.2021.06.010.

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients.

Hu C, Shi Y, Zhao L, et al.

Frontiers in pediatrics 2021; (9()):759505 doi:10.3389/fped.2021.759505.

First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features.

Olave-Rodriguez JA, Bonilla-Escobar FJ, Candelo E, Rodriguez-Rojas LX

The application of clinical genetics 2021; (14()):473-479 doi:10.2147/TACG.S323559.

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.

Li Y, Li M, Wang Z, et al.

Channels (Austin, Tex.) 2022; (16(1)):35-46 doi:10.1080/19336950.2022.2041292.

The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia.

Wang Q, Zhao Z, Shen H, et al.

Frontiers in neurology 2022; (13()):830707 doi:10.3389/fneur.2022.830707.

A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment.

Woelfel C, Meurs K, Friedenberg S, et al.

Journal of veterinary internal medicine 2022; (36(4)):1454-1459 doi:10.1111/jvim.16471.

[Rhabdomyolysis - the chamaeleon of the intensive care unit].

Gaik C, Arndt C

Anasthesiologie, Intensivmedizin, Notfallmedizin, Schmerztherapie : AINS 2022; (57(7-08)):502-507 doi:10.1055/a-1872-9968.

Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis.

Pagliarani S, Meola G, Filareti M, et al.

Frontiers in neurology 2022; (13()):845383 doi:10.3389/fneur.2022.845383.

Vorinostat Improves Myotonic Dystrophy Type 1 Splicing Abnormalities in DM1 Muscle Cell Lines and Skeletal Muscle from a DM1 Mouse Model.

Neault N, Ravel-Chapuis A, Baird SD, et al.

International journal of molecular sciences 2023; (24(4)) doi:10.3390/ijms24043794.

Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.

Öz Tunçer G, Sanri A, Aydin S, et al.

Journal of neuromuscular diseases 2023; (10(5)):915-924 doi:10.3233/JND-230046.

Muscle channelopathies.

Vivekanandam V, Jayaseelan D, Hanna MG

Handbook of clinical neurology 2023; (195()):521-532 doi:10.1016/B978-0-323-98818-6.00006-6.

Diagnostics in skeletal muscle channelopathies.

Vicino A, Brugnoni R, Maggi L

Expert review of molecular diagnostics 2023; (23(12)):1175-1193 doi:10.1080/14737159.2023.2288258.

Expert Insights from a Delphi-driven Neurologists' Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy.

Lidonnici D, Brambilla P, Ravasio R, et al.

Journal of neuromuscular diseases 2024; (11(2)):411-423 doi:10.3233/JND-230115.

Effectiveness and safety of mexiletine versus placebo in patients with myotonia: a systematic review and meta-analysis.

Elettreby AM, Elnaga AAA, Alsaied MA, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2024; (45(8)):3989-4001 doi:10.1007/s10072-024-07412-z.

Autosomal Recessive Myotonia Congenita in an Adolescent Boy With Novel Mutation: A Case Report With Discussion on Management.

Das P, Panigrahi D

Cureus 2024; (16(2)):e53981 doi:10.7759/cureus.53981.

[A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene].

Nakamura Y, Sato H, Kakiuchi K, et al.

Rinsho shinkeigaku = Clinical neurology 2024; (64(5)):344-348 doi:10.5692/clinicalneurol.cn-001929.

Clinical and genetic characteristics of myotonia congenita in Chinese population.

He Y, Qiu Y, Xiong Y, et al.

Channels (Austin, Tex.) 2024; (18(1)):2349823 doi:10.1080/19336950.2024.2349823.

Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier.

Marinakis NM, Svingou M, Papadimas GK, et al.

Muscle & nerve 2024; (70(2)):240-247 doi:10.1002/mus.28180.

Mexiletine versus lamotrigine in non-dystrophic myotonias: a randomised, double-blind, head-to-head, crossover, non-inferiority, phase 3 trial.

Vivekanandam V, Skorupinska I, Jayaseelan DL, et al.

The Lancet. Neurology 2024; (23(10)):1004-1012 doi:10.1016/S1474-4422(24)00320-X.

Preclinical study of the antimyotonic efficacy of safinamide in the myotonic mouse model.

Canfora I, Altamura C, Desaphy JF, et al.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2024; (21(6)):e00455 doi:10.1016/j.neurot.2024.e00455.

Recommendations of an expert group for the cardiac assessment of non-dystrophic myotonia adult patients treated with mexiletine.

Vicart S, Wahbi K, Duchateau J, et al.

Neuromuscular disorders : NMD 2024; (44()):104464 doi:10.1016/j.nmd.2024.104464.

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita.

Lucchiari S, Fortunato F, Meola G, et al.

Frontiers in genetics 2024; (15()):1486977 doi:10.3389/fgene.2024.1486977.

Drug treatment for myotonia.

Spillane J, Trip J, Drost G, et al.

The Cochrane database of systematic reviews 2025; (4()):CD004762 doi:10.1002/14651858.CD004762.pub3.

Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations.

Wang X, Wang S, Qi H, et al.

Italian journal of pediatrics 2025; (51(1)):183 doi:10.1186/s13052-025-02028-1.

Lamotrigine Therapy: Relation Between Treatment of Bipolar Affective Disorder and Incidence of Stevens-Johnson Syndrome-A Narrative Review of the Existing Literature.

Żełabowski K, Wojtysiak K, Ratka Z, et al.

Journal of clinical medicine 2025; (14(12)) doi:10.3390/jcm14124103.

A Novel Anesthetic in Thomsen Myotonia Congenita With Rocuronium and Sugammadex: A Case Report.

Shutes TK, McCormick WF, Harris RM, Walters CB

A&A practice 2026; (20(1)):e02137 doi:10.1213/XAA.0000000000002137.

Myotonia: Recognition, Evaluation, and Differential Diagnosis.

Crayle JI, Al-Lozi M, Miller TM

Muscle & nerve 2026; (74(4)):1174-1195 doi:10.1002/mus.70250.

General Anesthetic Management for Laparoscopic Appendectomy in a Patient With Myotonia Congenita: A Case Report.

George A

AANA journal 2026; (94(4)):289-292 doi:10.70278/AANAJ/.000001091.

Case Report: Three pathogenic molecular findings in a patient with myotonia congenita, pseudohypoparathyroidism, and a glaucoma-suspect phenotype.

Mukhtar NN, Alturki D, Benito A, et al.

Frontiers in endocrinology 2026; (17()):1850762 doi:10.3389/fendo.2026.1850762.