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Epilepsy, juvenile myoclonic, susceptibility to, 6(EJM6)

MedGen UID:
442587
Concept ID:
C2750888
Finding
Synonym: Epilepsy, juvenile myoclonic 6
 
Monarch Initiative: MONDO:0800271
OMIM®: 601949; 607682

Professional guidelines

PubMed

Lee CG, Lee J, Lee M
PLoS One 2018;13(6):e0199321. Epub 2018 Jun 20 doi: 10.1371/journal.pone.0199321. PMID: 29924869Free PMC Article

Recent clinical studies

Etiology

Helbig I, Hartmann C, Mefford HC
Epilepsy Behav 2013 Jul;28 Suppl 1:S66-8. doi: 10.1016/j.yebeh.2012.07.005. PMID: 23756484
Gitaí LL, de Almeida DH, Born JP, Gameleira FT, de Andrade TG, Machado LC, Gitaí DL
Neurol India 2012 Nov-Dec;60(6):585-8. doi: 10.4103/0028-3886.105191. PMID: 23287319
Jayalakshmi SS, Mohandas S, Sailaja S, Borgohain R
Seizure 2006 Apr;15(3):177-83. Epub 2006 Feb 21 doi: 10.1016/j.seizure.2005.12.011. PMID: 16495091
Elmslie FV, Rees M, Williamson MP, Kerr M, Kjeldsen MJ, Pang KA, Sundqvist A, Friis ML, Chadwick D, Richens A, Covanis A, Santos M, Arzimanoglou A, Panayiotopoulos CP, Curtis D, Whitehouse WP, Gardiner RM
Hum Mol Genet 1997 Aug;6(8):1329-34. doi: 10.1093/hmg/6.8.1329. PMID: 9259280
Sander T, Hildmann T, Janz D, Wienker TF, Neitzel H, Bianchi A, Bauer G, Sailer U, Berek K, Schmitz B
Ann Neurol 1995 Aug;38(2):210-7. doi: 10.1002/ana.410380213. PMID: 7654068

Diagnosis

Kothapalli J, Prasad Uppu V, Munikumar M, Kshirsagar SV, Afshan Jabeen S, Sivanarayana G
Epilepsy Behav 2023 Jul;144:109282. Epub 2023 Jun 3 doi: 10.1016/j.yebeh.2023.109282. PMID: 37276801
Fanella M, Frascarelli M, Lambiase C, Morano A, Unolt M, Liberati N, Fattouch J, Buzzanca A, Accinni T, Ceccanti M, Viganò A, Biondi M, Colonnese C, Giallonardo AT, Di Fabio F, Pizzuti A, Di Bonaventura C, Berardelli A
J Med Genet 2020 Mar;57(3):151-159. Epub 2019 Sep 10 doi: 10.1136/jmedgenet-2019-106223. PMID: 31506323
Joshi PA, Poduri A, Kothare SV
Epilepsy Behav 2015 Oct;51:163-5. Epub 2015 Aug 16 doi: 10.1016/j.yebeh.2015.07.030. PMID: 26283305
Pinto D, de Haan GJ, Janssen GA, Boezeman EH, van Erp MG, Westland B, Witte J, Bader A, Halley DJ, Kasteleijn-Nolst Trenité DG, Lindhout D, Koeleman BP
Epilepsia 2004 Mar;45(3):211-7. doi: 10.1111/j.0013-9580.2004.36003.x. PMID: 15009221
Winawer MR, Rabinowitz D, Pedley TA, Hauser WA, Ottman R
Neurology 2003 Dec 9;61(11):1576-81. doi: 10.1212/wnl.61.11.1576. PMID: 14663045Free PMC Article

Therapy

Wu SZ, Ye H, Yang XG, Lu ZL, Qu Q, Qu J
Clin Exp Pharmacol Physiol 2018 Mar;45(3):226-233. Epub 2017 Nov 28 doi: 10.1111/1440-1681.12877. PMID: 29047147
Balan S, Sathyan S, Radha SK, Joseph V, Radhakrishnan K, Banerjee M
Pharmacogenet Genomics 2013 Nov;23(11):605-10. doi: 10.1097/FPC.0000000000000000. PMID: 24061200
Radhakrishnan K, St Louis EK, Johnson JA, McClelland RL, Westmoreland BF, Klass DW
Epilepsia 2005 Jan;46(1):48-58. doi: 10.1111/j.0013-9580.2005.26604.x. PMID: 15660768
Aarli JA
Brain Dev 1993 Jan-Feb;15(1):41-9. doi: 10.1016/0387-7604(93)90005-s. PMID: 8338210

Prognosis

Heron SE, Khosravani H, Varela D, Bladen C, Williams TC, Newman MR, Scheffer IE, Berkovic SF, Mulley JC, Zamponi GW
Ann Neurol 2007 Dec;62(6):560-8. doi: 10.1002/ana.21169. PMID: 17696120
Jayalakshmi SS, Mohandas S, Sailaja S, Borgohain R
Seizure 2006 Apr;15(3):177-83. Epub 2006 Feb 21 doi: 10.1016/j.seizure.2005.12.011. PMID: 16495091
Norberg A, Forsgren L, Holmberg D, Holmberg M
Neurosci Lett 2006 Mar 27;396(2):137-42. Epub 2005 Dec 27 doi: 10.1016/j.neulet.2005.11.039. PMID: 16378686
Radhakrishnan K, St Louis EK, Johnson JA, McClelland RL, Westmoreland BF, Klass DW
Epilepsia 2005 Jan;46(1):48-58. doi: 10.1111/j.0013-9580.2005.26604.x. PMID: 15660768
Taske NL, Williamson MP, Makoff A, Bate L, Curtis D, Kerr M, Kjeldsen MJ, Pang KA, Sundqvist A, Friis ML, Chadwick D, Richens A, Covanis A, Santos M, Arzimanoglou A, Panayiotopoulos CP, Whitehouse WP, Rees M, Gardiner RM
Epilepsy Res 2002 Apr;49(2):157-72. doi: 10.1016/s0920-1211(02)00027-x. PMID: 12049804

Clinical prediction guides

Santos BPD, Marinho CRM, Marques TEBS, Angelo LKG, Malta MVDS, Duzzioni M, Castro OW, Leite JP, Barbosa FT, Gitaí DLG
PLoS One 2017;12(6):e0179629. Epub 2017 Jun 21 doi: 10.1371/journal.pone.0179629. PMID: 28636645Free PMC Article
Balan S, Sathyan S, Radha SK, Joseph V, Radhakrishnan K, Banerjee M
Pharmacogenet Genomics 2013 Nov;23(11):605-10. doi: 10.1097/FPC.0000000000000000. PMID: 24061200
Pal DK, Evgrafov OV, Tabares P, Zhang F, Durner M, Greenberg DA
Am J Hum Genet 2003 Aug;73(2):261-70. Epub 2003 Jun 25 doi: 10.1086/377006. PMID: 12830434Free PMC Article
Bai D, Alonso ME, Medina MT, Bailey JN, Morita R, Cordova S, Rasmussen A, Ramos-Peek J, Ochoa A, Jara A, Donnadieu FR, Cadena G, Yamakawa K, Delgado-Escueta AV
Am J Med Genet 2002 Dec 1;113(3):268-74. doi: 10.1002/ajmg.10724. PMID: 12439895
Sander T, Hildmann T, Janz D, Wienker TF, Neitzel H, Bianchi A, Bauer G, Sailer U, Berek K, Schmitz B
Ann Neurol 1995 Aug;38(2):210-7. doi: 10.1002/ana.410380213. PMID: 7654068

Recent systematic reviews

Santos BPD, Marinho CRM, Marques TEBS, Angelo LKG, Malta MVDS, Duzzioni M, Castro OW, Leite JP, Barbosa FT, Gitaí DLG
PLoS One 2017;12(6):e0179629. Epub 2017 Jun 21 doi: 10.1371/journal.pone.0179629. PMID: 28636645Free PMC Article

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