Research & Literature

Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis.

Sansone VA, Burge J, McDermott MP, et al.

Neurology 2016; (86(15)):1408-1416 doi:10.1212/WNL.0000000000002416.

Dichlorphenamide: A Review in Primary Periodic Paralyses.

Greig SL

Drugs 2016; (76(4)):501-7 doi:10.1007/s40265-016-0559-2.

Reversible Dilated Cardiomyopathy Caused by a High Burden of Ventricular Arrhythmias in Andersen-Tawil Syndrome.

Rezazadeh S, Guo J, Duff HJ, et al.

The Canadian journal of cardiology 2016; (32(12)):1576.e15-1576.e18 doi:10.1016/j.cjca.2016.07.587.

Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene.

Krych M, Biernacka EK, Ponińska J, et al.

Journal of cardiology 2017; (70(5)):504-510 doi:10.1016/j.jjcc.2017.01.009.

Long Exercise Test in Periodic Paralysis: A Bayesian Analysis.

Simmons DB, Lanning J, Cleland JC, et al.

Muscle & nerve 2019; (59(1)):47-54 doi:10.1002/mus.26157.

Clinical and neurophysiological variability in Andersen-Tawil syndrome.

Kokubun N, Aoki R, Nagashima T, et al.

Muscle & nerve 2019; (60(6)):752-757 doi:10.1002/mus.26705.

Therapeutic management of ventricular arrhythmias in Andersen-Tawil syndrome.

Maffè S, Paffoni P, Bergamasco L, et al.

Journal of electrocardiology 2020; (58()):37-42 doi:10.1016/j.jelectrocard.2019.10.009.

Multivariate analysis of TU wave complex on electrocardiogram in Andersen-Tawil syndrome with KCNJ2 mutations.

Horigome H, Ishikawa Y, Kokubun N, et al.

Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 2020; (25(3)):e12721 doi:10.1111/anec.12721.

Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1.

Mazzanti A, Guz D, Trancuccio A, et al.

Journal of the American College of Cardiology 2020; (75(15)):1772-1784 doi:10.1016/j.jacc.2020.02.033.

Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndrome.

Polyak ME, Shestak A, Podolyak D, Zaklyazminskaya E

BMJ case reports 2020; (13(8)) doi:10.1136/bcr-2020-235703.

Andersen-Tawil Syndrome: A Comprehensive Review.

Pérez-Riera AR, Barbosa-Barros R, Samesina N, et al.

Cardiology in review 2021; (29(4)):165-177 doi:10.1097/CRD.0000000000000326.

Successful treatment of arrhythmia with β-blocker and flecainide combination in pregnant patients with Andersen-Tawil syndrome: A case report and literature review.

Rujirachun P, Junyavoraluk A, Pithukpakorn M, et al.

Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 2021; (26(3)):e12798 doi:10.1111/anec.12798.

Andersen-Tawil Syndrome with High Risk of Sudden Cardiac Death in Four Mexican Patients. Cardiac and Extra-Cardiac Phenotypes.

Barrón-Díaz DR, Totomoch-Serra A, Escobar-Cedillo RE, et al.

Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion 2020; (73(3)):145-153 doi:10.24875/RIC.20000310.

Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance.

Hiraide T, Fukumura S, Yamamoto A, et al.

Brain & development 2021; (43(3)):470-474 doi:10.1016/j.braindev.2020.10.010.

Obstetric management of a patient with Andersen-Tawil syndrome: A case report.

Inagaki M, Tatsumi T, Yomogita H, et al.

The journal of obstetrics and gynaecology research 2021; (47(1)):446-451 doi:10.1111/jog.14553.

Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis.

Dolci C, Sansone VA, Gibelli D, et al.

American journal of medical genetics. Part A 2021; (185(3)):781-789 doi:10.1002/ajmg.a.62040.

Marked reduction in paralytic attacks in a patient with Andersen-Tawil syndrome switched from acetazolamide to dichlorphenamide.

Gupta A, Iyadurai S, Roggenbuck J, LoRusso S

Neuromuscular disorders : NMD 2021; (31(7)):656-659 doi:10.1016/j.nmd.2021.04.001.

Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.

Vivekanandam V, Männikkö R, Skorupinska I, et al.

Brain : a journal of neurology 2022; (145(6)):2108-2120 doi:10.1093/brain/awab445.

Andersen-Tawil Syndrome With Novel Mutation in KCNJ2: Case Report.

Yim J, Kim KB, Kim M, et al.

Frontiers in pediatrics 2021; (9()):790075 doi:10.3389/fped.2021.790075.

Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome.

Ünal Yüksekgönül A, Azak E, Akalın A, et al.

European journal of medical genetics 2022; (65(6)):104499 doi:10.1016/j.ejmg.2022.104499.

Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.

Villar-Quiles RN, Sternberg D, Tredez G, et al.

European journal of neurology 2022; (29(8)):2398-2411 doi:10.1111/ene.15369.

Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome.

Moreno-Manuel AI, Gutiérrez LK, Vera-Pedrosa ML, et al.

Cardiovascular research 2023; (119(4)):919-932 doi:10.1093/cvr/cvac118.

General anesthesia using propofol infusion for implantation of an implantable cardioverter defibrillator in a pediatric patient with Andersen-Tawil syndrome: a case report.

Park S, Heo W, Shin SW, et al.

Journal of dental anesthesia and pain medicine 2023; (23(1)):45-51 doi:10.17245/jdapm.2023.23.1.45.

Andersen-Tawil syndrome.

Goslinga JA, PtáČek LJ, Tawil R, Fay A

Handbook of clinical neurology 2024; (203()):59-67 doi:10.1016/B978-0-323-90820-7.00001-X.

Kir2.1 dysfunction at the sarcolemma and the sarcoplasmic reticulum causes arrhythmias in a mouse model of Andersen-Tawil syndrome type 1.

Macías Á, González-Guerra A, Moreno-Manuel AI, et al.

Nature cardiovascular research 2022; (1(10)):900-917 doi:10.1038/s44161-022-00145-2.

Clinical, myopathological, and genetic features of two Chinese families with Andersen-Tawil syndrome.

Wang J, Qu Q, Zheng X, et al.

Frontiers in neurology 2024; (15()):1423320 doi:10.3389/fneur.2024.1423320.

Kir2.1 mutations differentially increase the risk of flecainide proarrhythmia in Andersen Tawil Syndrome.

Cruz FM, Moreno-Manuel AI, Pérez PS, et al.

medRxiv : the preprint server for health sciences 2024; doi:10.1101/2024.12.10.24318629.

Atypical Presentation of Andersen-Tawil Syndrome: Heart Failure with Reduced Ejection without Periodic Paralysis or Dysmorphic Features.

Shehzad M, Shehzad D, Ahmad M, et al.

European journal of case reports in internal medicine 2024; (11(12)):005029 doi:10.12890/2024_005029.

Mechanisms underlying the distinct K+ dependencies of periodic paralysis.

Foy BD, Dupont C, Walker PV, et al.

The Journal of general physiology 2025; (157(3)) doi:10.1085/jgp.202413610.

Potassium-sensitive loss of muscle force in the setting of reduced inward rectifier K+ current: Implications for Andersen-Tawil syndrome.

Elia N, Quiñonez M, Wu F, et al.

Proceedings of the National Academy of Sciences of the United States of America 2025; (122(13)):e2418021122 doi:10.1073/pnas.2418021122.

Atomic-level investigation of KCNJ2 mutations associated with ventricular arrhythmic syndrome phenotypes.

Munawar S, Anderson CL, Reilly L, et al.

Scientific reports 2025; (15(1)):11290 doi:10.1038/s41598-025-95062-2.

Flecainide for the Treatment of Andersen-Tawil Syndrome.

Mann TD, Yoruk A, Neves RA, et al.

JACC. Clinical electrophysiology 2025; (11(7)):1511-1518 doi:10.1016/j.jacep.2025.03.020.

Muscle Channelopathies and Rhabdomyolysis.

Kushlaf H

Continuum (Minneapolis, Minn.) 2025; (31(5)):1409-1436 doi:10.1212/cont.0000000000001620.

Unlocking the Secrets of Andersen-Tawil Syndrome: The Role of Next-Generation Sequencing in a Family With Long QT Syndrome.

Namazi M, Naderi N, Askarinejad A, et al.

Cardiology research and practice 2025; (2025()):9532818 doi:10.1155/crp/9532818.

Perinatal Management of Andersen-Tawil Syndrome Using a Wearable Cardioverter-Defibrillator: A Case Report.

Sakaguchi Y, Otsuki S, Izumi D, et al.

The journal of obstetrics and gynaecology research 2026; (52(1)):e70181 doi:10.1111/jog.70181.

Case Report of Andersen-Tawil Syndrome: Rare Presentation of a Rare Disease.

Shakya H, Bhatnagar S, Babel P, et al.

Annals of Indian Academy of Neurology 2026; (29(1)):91-93 doi:10.4103/aian.aian_498_25.

Opening closed inward rectifier potassium channel doors.

Stary-Weinzinger A, Kaiser F, van der Heyden MAG, Bendahhou S

British journal of pharmacology 2026; (183(10)):2197-2218 doi:10.1111/bph.70374.

Multisystemic Assessment in Andersen-Tawil Syndrome: Report of Eighteen Individuals.

Gnazzo M, Parlapiano G, Morlino S, et al.

Diagnostics (Basel, Switzerland) 2026; (16(12)) doi:10.3390/diagnostics16121876.

Atypical Andersen-Tawil Syndrome in an Asymptomatic Child With Bidirectional Ventricular Tachycardia and Incipient Tachycardiomyopathy.

Assunção MELSM, Rocha JEM, Montenegro MV, et al.

JACC. Case reports 2026; (31(30)):108233 doi:10.1016/j.jaccas.2026.108233.

Diagnosis and management of very rare primary arrhythmia syndromes in children and adults: a Clinical Consensus Statement of the European Heart Rhythm Association of the ESC and the Association of Cardiovascular Nursing & Allied Professions of the ESC, endorsed by the Association for European Paediatric and Congenital Cardiology.

Sarquella-Brugada G, Mazzanti A, Baban A, et al.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2026; (28(8)) doi:10.1093/europace/euag184.

Diagnostic and therapeutic challenges in Andersen-Tawil syndrome.

Jacobsen SB, van der Werf C, van der Kooi AJ, et al.

Heart rhythm 2026; doi:10.1016/j.hrthm.2026.09.020.