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Channelopathy with epilepsy

MedGen UID:
1842768
Concept ID:
C5680595
Disease or Syndrome
Orphanet: ORPHA182083

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChannelopathy with epilepsy

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
Indelicato E, Boesch S
Handb Exp Pharmacol 2023;279:227-248. doi: 10.1007/164_2022_625. PMID: 36592223
Maillard PY, Baer S, Schaefer É, Desnous B, Villeneuve N, Lépine A, Fabre A, Lacoste C, El Chehadeh S, Piton A, Porter LF, Perriard C, Wardé MA, Spitz MA, Laugel V, Lesca G, Putoux A, Ville D, Mignot C, Héron D, Nabbout R, Barcia G, Rio M, Roubertie A, Meyer P, Paquis-Flucklinger V, Patat O, Lefranc J, Gerard M; Epigen Consortium, de Bellescize J, Villard L, De Saint Martin A, Milh M
Epilepsia 2022 Oct;63(10):2519-2533. Epub 2022 Aug 13 doi: 10.1111/epi.17336. PMID: 35718920Free PMC Article

Recent clinical studies

Etiology

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
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network
JAMA Neurol 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. PMID: 37486637Free PMC Article
El Ghaleb Y, Flucher BE
Handb Exp Pharmacol 2023;279:263-288. doi: 10.1007/164_2022_631. PMID: 36592228
Maillard PY, Baer S, Schaefer É, Desnous B, Villeneuve N, Lépine A, Fabre A, Lacoste C, El Chehadeh S, Piton A, Porter LF, Perriard C, Wardé MA, Spitz MA, Laugel V, Lesca G, Putoux A, Ville D, Mignot C, Héron D, Nabbout R, Barcia G, Rio M, Roubertie A, Meyer P, Paquis-Flucklinger V, Patat O, Lefranc J, Gerard M; Epigen Consortium, de Bellescize J, Villard L, De Saint Martin A, Milh M
Epilepsia 2022 Oct;63(10):2519-2533. Epub 2022 Aug 13 doi: 10.1111/epi.17336. PMID: 35718920Free PMC Article
Suetterlin K, Matthews E, Sud R, McCall S, Fialho D, Burge J, Jayaseelan D, Haworth A, Sweeney MG, Kullmann DM, Schorge S, Hanna MG, Männikkö R
Brain 2022 Apr 18;145(2):607-620. doi: 10.1093/brain/awab344. PMID: 34529042Free PMC Article

Diagnosis

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
El Ghaleb Y, Flucher BE
Handb Exp Pharmacol 2023;279:263-288. doi: 10.1007/164_2022_631. PMID: 36592228
Indelicato E, Boesch S
Handb Exp Pharmacol 2023;279:227-248. doi: 10.1007/164_2022_625. PMID: 36592223
Scheffer IE, Nabbout R
Epilepsia 2019 Dec;60 Suppl 3:S17-S24. doi: 10.1111/epi.16386. PMID: 31904117
Wang J, Lin ZJ, Liu L, Xu HQ, Shi YW, Yi YH, He N, Liao WP
Seizure 2017 Jan;44:11-20. Epub 2016 Dec 6 doi: 10.1016/j.seizure.2016.11.030. PMID: 28007376

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
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
Cornet MC, Sands TT, Cilio MR
Semin Fetal Neonatal Med 2018 Jun;23(3):204-212. Epub 2018 Jan 31 doi: 10.1016/j.siny.2018.01.004. PMID: 29426806
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
Huang X, Jan LY
J Cell Biol 2014 Jul 21;206(2):151-62. doi: 10.1083/jcb.201404136. PMID: 25049269Free PMC Article

Prognosis

Giussani G, Falcicchio G, La Neve A, Costagliola G, Striano P, Scarabello A, Mostacci B, Beghi E; LICE SUDEP study group
Epilepsia Open 2023 Sep;8(3):728-757. Epub 2023 May 17 doi: 10.1002/epi4.12722. PMID: 36896633Free PMC Article
Tian MQ, Liu XR, Lin SM, Wang J, Luo S, Gao LD, Chen XB, Liang XY, Liu ZG, He N, Yi YH, Liao WP; China Epilepsy Gene 1.0 Project
CNS Neurosci Ther 2023 Feb;29(2):727-735. Epub 2022 Dec 13 doi: 10.1111/cns.14057. PMID: 36514184Free PMC Article
Phitsanuwong C
Pediatr Ann 2021 Jun;50(6):e245-e253. Epub 2021 Jun 1 doi: 10.3928/19382359-20210518-01. PMID: 34115564
El Achkar CM, Olson HE, Poduri A, Pearl PL
Curr Neurol Neurosci Rep 2015 Jul;15(7):39. doi: 10.1007/s11910-015-0559-8. PMID: 26008807
Park JT, Shahid AM, Jammoul A
Pediatr Ann 2015 Feb;44(2):e30-5. doi: 10.3928/00904481-20150203-09. PMID: 25658216

Clinical prediction guides

XiangWei W, Perszyk RE, Liu N, Xu Y, Bhattacharya S, Shaulsky GH, Smith-Hicks C, Fatemi A, Fry AE, Chandler K, Wang T, Vogt J, Cohen JS, Paciorkowski AR, Poduri A, Zhang Y, Wang S, Wang Y, Zhai Q, Fang F, Leng J, Garber K, Myers SJ, Jauss RT, Park KL, Benke TA, Lemke JR, Yuan H, Jiang Y, Traynelis SF
Cell Mol Life Sci 2023 Nov 3;80(11):345. doi: 10.1007/s00018-023-04991-6. PMID: 37921875Free PMC Article
van der Veen S, Tse GTW, Ferretti A, Garone G, Post B, Specchio N, Fung VSC, Trivisano M, Scheffer IE
Neurology 2023 Nov 7;101(19):e1884-e1892. Epub 2023 Sep 25 doi: 10.1212/WNL.0000000000207808. PMID: 37748886Free PMC Article
Giussani G, Falcicchio G, La Neve A, Costagliola G, Striano P, Scarabello A, Mostacci B, Beghi E; LICE SUDEP study group
Epilepsia Open 2023 Sep;8(3):728-757. Epub 2023 May 17 doi: 10.1002/epi4.12722. PMID: 36896633Free PMC Article
Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F
Orphanet J Rare Dis 2021 May 13;16(1):219. doi: 10.1186/s13023-021-01850-0. PMID: 33985586Free PMC Article
Cendes F, Sakamoto AC, Spreafico R, Bingaman W, Becker AJ
Acta Neuropathol 2014 Jul;128(1):21-37. Epub 2014 May 14 doi: 10.1007/s00401-014-1292-0. PMID: 24823761

Recent systematic reviews

Zhang MW, Liang XY, Wang J, Gao LD, Liao HJ, He YH, Yi YH, He N, Liao WP; China Epilepsy Gene 1.0 Project
Seizure 2024 Mar;116:4-13. Epub 2023 Sep 23 doi: 10.1016/j.seizure.2023.09.021. PMID: 37777370
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
Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F
Orphanet J Rare Dis 2021 May 13;16(1):219. doi: 10.1186/s13023-021-01850-0. PMID: 33985586Free PMC Article
Stevelink R, Sanders MW, Tuinman MP, Brilstra EH, Koeleman BP, Jansen FE, Braun KP
Epileptic Disord 2018 Apr 1;20(2):99-115. doi: 10.1684/epd.2018.0959. PMID: 29620010

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