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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

Pressler RM, Abend NS, Auvin S, Boylan G, Brigo F, Cilio MR, De Vries LS, Elia M, Espeche A, Hahn CD, Inder T, Jette N, Kakooza-Mwesige A, Mader S, Mizrahi EM, Moshé SL, Nagarajan L, Noyman I, Nunes ML, Samia P, Shany E, Shellhaas RA, Subota A, Triki CC, Tsuchida T, Vinayan KP, Wilmshurst JM, Yozawitz EG, Hartmann H
Epilepsia 2023 Oct;64(10):2550-2570. Epub 2023 Sep 1 doi: 10.1111/epi.17745. PMID: 37655702
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
Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ
Heart Rhythm 2009 Sep;6(9):1297-303. Epub 2009 Jun 23 doi: 10.1016/j.hrthm.2009.05.021. PMID: 19716085Free PMC Article

Recent clinical studies

Etiology

El Ghaleb Y, Flucher BE
Handb Exp Pharmacol 2023;279:263-288. doi: 10.1007/164_2022_631. PMID: 36592228
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
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
Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ
Heart Rhythm 2009 Sep;6(9):1297-303. Epub 2009 Jun 23 doi: 10.1016/j.hrthm.2009.05.021. PMID: 19716085Free PMC Article

Diagnosis

Vivekanandam V, Jayaseelan D, Hanna MG
Handb Clin Neurol 2023;195:521-532. doi: 10.1016/B978-0-323-98818-6.00006-6. PMID: 37562884
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
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

Pressler RM, Abend NS, Auvin S, Boylan G, Brigo F, Cilio MR, De Vries LS, Elia M, Espeche A, Hahn CD, Inder T, Jette N, Kakooza-Mwesige A, Mader S, Mizrahi EM, Moshé SL, Nagarajan L, Noyman I, Nunes ML, Samia P, Shany E, Shellhaas RA, Subota A, Triki CC, Tsuchida T, Vinayan KP, Wilmshurst JM, Yozawitz EG, Hartmann H
Epilepsia 2023 Oct;64(10):2550-2570. Epub 2023 Sep 1 doi: 10.1111/epi.17745. PMID: 37655702
McElvaney OJ, Gunaratnam C, McElvaney OF, Bagwe I, Reeves EP, McElvaney NG
Expert Rev Respir Med 2018 Oct;12(10):843-855. Epub 2018 Sep 19 doi: 10.1080/17476348.2018.1512409. PMID: 30129380
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
Stapleton LJ
Scott Med J 2018 Feb;63(1):28-31. Epub 2017 Aug 25 doi: 10.1177/0036933017727420. PMID: 28841083
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

Akinrinade O, Lesurf R; Genomics England Research Consortium, Lougheed J, Mondal T, Smythe J, Altamirano-Diaz L, Oechslin E, Mital S
J Cardiovasc Transl Res 2023 Dec;16(6):1287-1302. Epub 2023 Jul 21 doi: 10.1007/s12265-023-10411-8. PMID: 37477868Free PMC Article
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
Wilde AAM, Amin A
Int J Cardiol 2017 Jun 15;237:53-55. Epub 2017 Mar 18 doi: 10.1016/j.ijcard.2017.03.063. PMID: 28343764
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

Akinrinade O, Lesurf R; Genomics England Research Consortium, Lougheed J, Mondal T, Smythe J, Altamirano-Diaz L, Oechslin E, Mital S
J Cardiovasc Transl Res 2023 Dec;16(6):1287-1302. Epub 2023 Jul 21 doi: 10.1007/s12265-023-10411-8. PMID: 37477868Free PMC Article
Herold KG, Hussey JW, Dick IE
Handb Exp Pharmacol 2023;279:159-181. doi: 10.1007/164_2022_624. PMID: 36598608Free PMC Article
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
Wilde AAM, Amin A
Int J Cardiol 2017 Jun 15;237:53-55. Epub 2017 Mar 18 doi: 10.1016/j.ijcard.2017.03.063. PMID: 28343764

Recent systematic reviews

Pressler RM, Abend NS, Auvin S, Boylan G, Brigo F, Cilio MR, De Vries LS, Elia M, Espeche A, Hahn CD, Inder T, Jette N, Kakooza-Mwesige A, Mader S, Mizrahi EM, Moshé SL, Nagarajan L, Noyman I, Nunes ML, Samia P, Shany E, Shellhaas RA, Subota A, Triki CC, Tsuchida T, Vinayan KP, Wilmshurst JM, Yozawitz EG, Hartmann H
Epilepsia 2023 Oct;64(10):2550-2570. Epub 2023 Sep 1 doi: 10.1111/epi.17745. PMID: 37655702
Mroczek M, Iyadurai S
Int J Mol Sci 2023 Jan 23;24(3) doi: 10.3390/ijms24032260. PMID: 36768582Free PMC Article
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
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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