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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

Liang P, Zhang Y, Wan YCS, Ma S, Dong P, Lowry AJ, Francis SJ, Khandelwal S, Delahunty M, Telen MJ, Strouse JJ, Arepally GM, Yang H
Blood 2024 Jan 25;143(4):357-369. doi: 10.1182/blood.2023021465. PMID: 38033286Free PMC Article
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
Kallas D, Roberts JD, Sanatani S, Roston TM
Card Electrophysiol Clin 2023 Sep;15(3):319-329. Epub 2023 Jun 20 doi: 10.1016/j.ccep.2023.05.003. PMID: 37558302
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

McTague A, Scheffer IE, Kullmann DM, Sisodiya S
Handb Clin Neurol 2024;203:157-184. doi: 10.1016/B978-0-323-90820-7.00016-1. PMID: 39174247
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
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

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
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
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

Recent systematic reviews

Amantea C, Pilia E, Rossi MF, Corona VF, Amato G, Ciccu C, Gavi F, Santoro PE, Borrelli I, Ricciardi W, Gualano MR, Moscato U
Syst Rev 2024 Mar 9;13(1):84. doi: 10.1186/s13643-024-02504-5. PMID: 38461297Free PMC Article
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
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

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