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Epilepsy, idiopathic generalized, susceptibility to, 6(EIG6)

MedGen UID:
394369
Concept ID:
C2677793
Finding
Synonym: Epilepsy, idiopathic generalized 6
 
Monarch Initiative: MONDO:0800279
OMIM®: 607904; 611942

Professional guidelines

PubMed

Idro R, Williams TN, Gwer S, Uyoga S, Macharia A, Opi H, Atkinson S, Maitland K, Kager PA, Kwiatkowski D, Neville BG, Newton CR
Epilepsy Res 2008 Oct;81(2-3):114-8. Epub 2008 Jun 12 doi: 10.1016/j.eplepsyres.2008.04.021. PMID: 18554871Free PMC Article

Recent clinical studies

Etiology

Torriani O, Vuilleumier F, Perneger T, Despland PA, Maeder M, Héritier-Barras AC, Vulliemoz S, Seeck M, Rossetti AO, Picard F
J Neurol 2016 Oct;263(10):2057-64. Epub 2016 Jul 14 doi: 10.1007/s00415-016-8228-7. PMID: 27416858
Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP, Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I, Sander T; EPICURE Consortium
Epilepsia 2013 Feb;54(2):256-64. Epub 2013 Jan 7 doi: 10.1111/epi.12078. PMID: 23294455
Christensen J, Kjeldsen MJ, Andersen H, Friis ML, Sidenius P
Epilepsia 2005 Jun;46(6):956-60. doi: 10.1111/j.1528-1167.2005.51204.x. PMID: 15946339
Marini C, King MA, Archer JS, Newton MR, Berkovic SF
J Neurol Neurosurg Psychiatry 2003 Feb;74(2):192-6. doi: 10.1136/jnnp.74.2.192. PMID: 12531947Free PMC Article
Zara F, Bianchi A, Avanzini G, Di Donato S, Castellotti B, Patel PI, Pandolfo M
Hum Mol Genet 1995 Jul;4(7):1201-7. doi: 10.1093/hmg/4.7.1201. PMID: 8528209

Diagnosis

Torriani O, Vuilleumier F, Perneger T, Despland PA, Maeder M, Héritier-Barras AC, Vulliemoz S, Seeck M, Rossetti AO, Picard F
J Neurol 2016 Oct;263(10):2057-64. Epub 2016 Jul 14 doi: 10.1007/s00415-016-8228-7. PMID: 27416858
Christensen J, Kjeldsen MJ, Andersen H, Friis ML, Sidenius P
Epilepsia 2005 Jun;46(6):956-60. doi: 10.1111/j.1528-1167.2005.51204.x. PMID: 15946339
Tauer U, Lorenz S, Lenzen KP, Heils A, Muhle H, Gresch M, Neubauer BA, Waltz S, Rudolf G, Mattheisen M, Strauch K, Nürnberg P, Schmitz B, Stephani U, Sander T
Ann Neurol 2005 Jun;57(6):866-73. doi: 10.1002/ana.20500. PMID: 15929039
Bisulli F, Tinuper P, Avoni P, Striano P, Striano S, d'Orsi G, Vignatelli L, Bagattin A, Scudellaro E, Florindo I, Nobile C, Tassinari CA, Baruzzi A, Michelucci R
Brain 2004 Jun;127(Pt 6):1343-52. Epub 2004 Apr 16 doi: 10.1093/brain/awh151. PMID: 15090473
Marini C, King MA, Archer JS, Newton MR, Berkovic SF
J Neurol Neurosurg Psychiatry 2003 Feb;74(2):192-6. doi: 10.1136/jnnp.74.2.192. PMID: 12531947Free PMC Article

Therapy

Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP, Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I, Sander T; EPICURE Consortium
Epilepsia 2013 Feb;54(2):256-64. Epub 2013 Jan 7 doi: 10.1111/epi.12078. PMID: 23294455
Mullen SA, Crompton DE, Carney PW, Helbig I, Berkovic SF
Neurology 2009 Feb 10;72(6):558-65. doi: 10.1212/01.wnl.0000341942.29513.bd. PMID: 19204266
Covanis A
Pediatrics 2006 Oct;118(4):e1237-43. Epub 2006 Sep 1 doi: 10.1542/peds.2006-0623. PMID: 16950946
Marini C, King MA, Archer JS, Newton MR, Berkovic SF
J Neurol Neurosurg Psychiatry 2003 Feb;74(2):192-6. doi: 10.1136/jnnp.74.2.192. PMID: 12531947Free PMC Article
Durner M, Greenberg DA, Delgado-Escueta AV
Neurology 1992 Apr;42(4 Suppl 5):63-7. PMID: 1574178

Prognosis

Peljto AL, Barker-Cummings C, Vasoli VM, Leibson CL, Hauser WA, Buchhalter JR, Ottman R
Brain 2014 Mar;137(Pt 3):795-805. Epub 2014 Jan 26 doi: 10.1093/brain/awt368. PMID: 24468822Free PMC Article
Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE
Ann Neurol 2012 Nov;72(5):807-15. doi: 10.1002/ana.23702. PMID: 23280796
Covanis A
Pediatrics 2006 Oct;118(4):e1237-43. Epub 2006 Sep 1 doi: 10.1542/peds.2006-0623. PMID: 16950946
Bisulli F, Tinuper P, Avoni P, Striano P, Striano S, d'Orsi G, Vignatelli L, Bagattin A, Scudellaro E, Florindo I, Nobile C, Tassinari CA, Baruzzi A, Michelucci R
Brain 2004 Jun;127(Pt 6):1343-52. Epub 2004 Apr 16 doi: 10.1093/brain/awh151. PMID: 15090473
Marini C, King MA, Archer JS, Newton MR, Berkovic SF
J Neurol Neurosurg Psychiatry 2003 Feb;74(2):192-6. doi: 10.1136/jnnp.74.2.192. PMID: 12531947Free PMC Article

Clinical prediction guides

Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP, Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I, Sander T; EPICURE Consortium
Epilepsia 2013 Feb;54(2):256-64. Epub 2013 Jan 7 doi: 10.1111/epi.12078. PMID: 23294455
de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T
Brain 2010 Jan;133(Pt 1):23-32. Epub 2009 Oct 20 doi: 10.1093/brain/awp262. PMID: 19843651Free PMC Article
Tauer U, Lorenz S, Lenzen KP, Heils A, Muhle H, Gresch M, Neubauer BA, Waltz S, Rudolf G, Mattheisen M, Strauch K, Nürnberg P, Schmitz B, Stephani U, Sander T
Ann Neurol 2005 Jun;57(6):866-73. doi: 10.1002/ana.20500. PMID: 15929039
Sander T, Windemuth C, Schulz H, Saar K, Gennaro E, Bianchi A, Zara F, Bulteau C, Kaminska A, Ville D, Cieuta C, Prud'homme JF, Dulac O, Bate L, Gardiner RM, de Haan GJ, Janssen GA, Witte J, Halley DJ, Lindhout D, Wienker TF, Janz D; European Consortium on the Genetics of Idiopathic Generalized Epilepsy
Am J Med Genet 2002 Aug 8;114(6):673-8. doi: 10.1002/ajmg.10645. PMID: 12210286
Zara F, Bianchi A, Avanzini G, Di Donato S, Castellotti B, Patel PI, Pandolfo M
Hum Mol Genet 1995 Jul;4(7):1201-7. doi: 10.1093/hmg/4.7.1201. PMID: 8528209

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