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Channelopathy

MedGen UID:
328427
Concept ID:
C1720983
Disease or Syndrome
Synonym: Channelopathies

Definition

A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Channelopathy

Professional guidelines

PubMed

Zeidman LA
Neurol Clin 2021 Feb;39(1):113-131. Epub 2020 Nov 7 doi: 10.1016/j.ncl.2020.09.006. PMID: 33223078
Musunuru K, Hershberger RE, Day SM, Klinedinst NJ, Landstrom AP, Parikh VN, Prakash S, Semsarian C, Sturm AC; American Heart Association Council on Genomic and Precision Medicine; Council on Arteriosclerosis, Thrombosis and Vascular Biology; Council on Cardiovascular and Stroke Nursing; and Council on Clinical Cardiology
Circ Genom Precis Med 2020 Aug;13(4):e000067. Epub 2020 Jul 23 doi: 10.1161/HCG.0000000000000067. PMID: 32698598
Devigili G, Cazzato D, Lauria G
Expert Rev Neurother 2020 Sep;20(9):967-980. Epub 2020 Jul 23 doi: 10.1080/14737175.2020.1794825. PMID: 32654574

Recent clinical studies

Etiology

Cerrone M, Costa S, Delmar M
Annu Rev Genomics Hum Genet 2022 Aug 31;23:255-274. Epub 2022 May 13 doi: 10.1146/annurev-genom-112921-011200. PMID: 35567276
Lankaputhra M, Voskoboinik A
Intern Med J 2021 Dec;51(12):1999-2011. doi: 10.1111/imj.15437. PMID: 34151491
Devigili G, Cazzato D, Lauria G
Expert Rev Neurother 2020 Sep;20(9):967-980. Epub 2020 Jul 23 doi: 10.1080/14737175.2020.1794825. PMID: 32654574
Wallace E, Howard L, Liu M, O'Brien T, Ward D, Shen S, Prendiville T
Pediatr Cardiol 2019 Oct;40(7):1419-1430. Epub 2019 Aug 22 doi: 10.1007/s00246-019-02151-x. PMID: 31440766Free PMC Article
Park JT, Shahid AM, Jammoul A
Pediatr Ann 2015 Feb;44(2):e30-5. doi: 10.3928/00904481-20150203-09. PMID: 25658216

Diagnosis

Lankaputhra M, Voskoboinik A
Intern Med J 2021 Dec;51(12):1999-2011. doi: 10.1111/imj.15437. PMID: 34151491
Zeidman LA
Neurol Clin 2021 Feb;39(1):113-131. Epub 2020 Nov 7 doi: 10.1016/j.ncl.2020.09.006. PMID: 33223078
Devigili G, Cazzato D, Lauria G
Expert Rev Neurother 2020 Sep;20(9):967-980. Epub 2020 Jul 23 doi: 10.1080/14737175.2020.1794825. PMID: 32654574
Scheffer IE, Nabbout R
Epilepsia 2019 Dec;60 Suppl 3:S17-S24. doi: 10.1111/epi.16386. PMID: 31904117
Wallace E, Howard L, Liu M, O'Brien T, Ward D, Shen S, Prendiville T
Pediatr Cardiol 2019 Oct;40(7):1419-1430. Epub 2019 Aug 22 doi: 10.1007/s00246-019-02151-x. PMID: 31440766Free PMC Article

Therapy

Tso JV, Powers JM, Kim JH
Heart 2022 Jun 24;108(14):1084-1089. doi: 10.1136/heartjnl-2021-319601. PMID: 34670825Free PMC Article
Sun AX, Yuan Q, Fukuda M, Yu W, Yan H, Lim GGY, Nai MH, D'Agostino GA, Tran HD, Itahana Y, Wang D, Lokman H, Itahana K, Lim SWL, Tang J, Chang YY, Zhang M, Cook SA, Rackham OJL, Lim CT, Tan EK, Ng HH, Lim KL, Jiang YH, Je HS
Science 2019 Dec 20;366(6472):1486-1492. doi: 10.1126/science.aav5386. PMID: 31857479Free PMC Article
Cerrone M
Trends Cardiovasc Med 2018 May;28(4):284-292. Epub 2017 Nov 27 doi: 10.1016/j.tcm.2017.11.003. PMID: 29254832
Kozlov S
Neuropharmacology 2018 Apr;132:83-97. Epub 2017 Oct 26 doi: 10.1016/j.neuropharm.2017.10.031. PMID: 29080794
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR
J Med Genet 2017 Jul;54(7):460-470. Epub 2017 Apr 4 doi: 10.1136/jmedgenet-2016-104509. PMID: 28377535Free PMC Article

Prognosis

Pérez-Riera AR, Barbosa-Barros R, Samesina N, Pastore CA, Scanavacca M, Daminello-Raimundo R, de Abreu LC, Nikus K, Brugada P
Cardiol Rev 2021 Jul-Aug 01;29(4):165-177. doi: 10.1097/CRD.0000000000000326. PMID: 32947483
Cerrone M
Trends Cardiovasc Med 2018 May;28(4):284-292. Epub 2017 Nov 27 doi: 10.1016/j.tcm.2017.11.003. PMID: 29254832
Park JT, Shahid AM, Jammoul A
Pediatr Ann 2015 Feb;44(2):e30-5. doi: 10.3928/00904481-20150203-09. PMID: 25658216
Haas J, Frese KS, Peil B, Kloos W, Keller A, Nietsch R, Feng Z, Müller S, Kayvanpour E, Vogel B, Sedaghat-Hamedani F, Lim WK, Zhao X, Fradkin D, Köhler D, Fischer S, Franke J, Marquart S, Barb I, Li DT, Amr A, Ehlermann P, Mereles D, Weis T, Hassel S, Kremer A, King V, Wirsz E, Isnard R, Komajda M, Serio A, Grasso M, Syrris P, Wicks E, Plagnol V, Lopes L, Gadgaard T, Eiskjær H, Jørgensen M, Garcia-Giustiniani D, Ortiz-Genga M, Crespo-Leiro MG, Deprez RH, Christiaans I, van Rijsingen IA, Wilde AA, Waldenstrom A, Bolognesi M, Bellazzi R, Mörner S, Bermejo JL, Monserrat L, Villard E, Mogensen J, Pinto YM, Charron P, Elliott P, Arbustini E, Katus HA, Meder B
Eur Heart J 2015 May 7;36(18):1123-35a. Epub 2014 Aug 27 doi: 10.1093/eurheartj/ehu301. PMID: 25163546
Latronico N, Bolton CF
Lancet Neurol 2011 Oct;10(10):931-41. doi: 10.1016/S1474-4422(11)70178-8. PMID: 21939902

Clinical prediction guides

Herold KG, Hussey JW, Dick IE
Handb Exp Pharmacol 2023;279:159-181. doi: 10.1007/164_2022_624. PMID: 36598608
Cerrone M, Costa S, Delmar M
Annu Rev Genomics Hum Genet 2022 Aug 31;23:255-274. Epub 2022 May 13 doi: 10.1146/annurev-genom-112921-011200. PMID: 35567276
Pérez-Riera AR, Barbosa-Barros R, Samesina N, Pastore CA, Scanavacca M, Daminello-Raimundo R, de Abreu LC, Nikus K, Brugada P
Cardiol Rev 2021 Jul-Aug 01;29(4):165-177. doi: 10.1097/CRD.0000000000000326. PMID: 32947483
Cerrone M
Trends Cardiovasc Med 2018 May;28(4):284-292. Epub 2017 Nov 27 doi: 10.1016/j.tcm.2017.11.003. PMID: 29254832
Lacruz RS, Feske S
Ann N Y Acad Sci 2015 Nov;1356(1):45-79. Epub 2015 Oct 15 doi: 10.1111/nyas.12938. PMID: 26469693Free PMC Article

Recent systematic reviews

Ferreira AC, Dias-Filho CAA, de Jesus Silva Soares Junior N, Dias CJ, Monteiro SCM, Andrade RM, Mostarda CT
J Biochem Mol Toxicol 2022 Apr;36(4):e22993. Epub 2022 Feb 21 doi: 10.1002/jbt.22993. PMID: 35187757
Adler A, Novelli V, Amin AS, Abiusi E, Care M, Nannenberg EA, Feilotter H, Amenta S, Mazza D, Bikker H, Sturm AC, Garcia J, Ackerman MJ, Hershberger RE, Perez MV, Zareba W, Ware JS, Wilde AAM, Gollob MH
Circulation 2020 Feb 11;141(6):418-428. Epub 2020 Jan 27 doi: 10.1161/CIRCULATIONAHA.119.043132. PMID: 31983240Free PMC Article
Arthur L, Keen K, Verriotis M, Peters J, Kelly A, Howard RF, Dib-Hajj SD, Waxman SG, Walker SM
J Pediatr 2019 Mar;206:217-224.e9. Epub 2018 Nov 9 doi: 10.1016/j.jpeds.2018.10.024. PMID: 30416015
Kong T, Feulefack J, Ruether K, Shen F, Zheng W, Chen XZ, Sergi C
Ann Clin Lab Sci 2017 Aug;47(4):481-490. PMID: 28801377
Bazerbachi F, Haffar S, Szarka LA, Wang Z, Prokop LJ, Murad MH, Camilleri M
Neurogastroenterol Motil 2017 Nov;29(11) Epub 2017 Jun 5 doi: 10.1111/nmo.13120. PMID: 28580600

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