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EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2(EJA2)

MedGen UID:
416409
Concept ID:
C2750895
Finding
Synonyms: EJA2; Epilepsy, juvenile absence 2
 
OMIM®: 607628

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
Thomas RH, Chung SK, Wood SE, Cushion TD, Drew CJ, Hammond CL, Vanbellinghen JF, Mullins JG, Rees MI
Brain 2013 Oct;136(Pt 10):3085-95. Epub 2013 Sep 11 doi: 10.1093/brain/awt207. PMID: 24030948
Blumenfeld H, Klein JP, Schridde U, Vestal M, Rice T, Khera DS, Bashyal C, Giblin K, Paul-Laughinghouse C, Wang F, Phadke A, Mission J, Agarwal RK, Englot DJ, Motelow J, Nersesyan H, Waxman SG, Levin AR
Epilepsia 2008 Mar;49(3):400-9. Epub 2007 Dec 6 doi: 10.1111/j.1528-1167.2007.01458.x. PMID: 18070091Free PMC Article

Recent clinical studies

Etiology

Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G
Neurology 2024 Jan 23;102(2):e207945. Epub 2023 Dec 22 doi: 10.1212/WNL.0000000000207945. PMID: 38165337
Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
Xie H, Su W, Pei J, Zhang Y, Gao K, Li J, Ma X, Zhang Y, Wu X, Jiang Y
Epilepsy Res 2019 Aug;154:55-61. Epub 2019 Apr 22 doi: 10.1016/j.eplepsyres.2019.04.005. PMID: 31054517
Fanciulli M, Pasini E, Malacrida S, Striano P, Striano S, Michelucci R, Ottman R, Nobile C
Epilepsia 2014 Oct;55(10):1651-8. Epub 2014 Sep 19 doi: 10.1111/epi.12767. PMID: 25243798
Sherr EH, Owen R, Albertson DG, Pinkel D, Cotter PD, Slavotinek AM, Hetts SW, Jeremy RJ, Schilmoeller G, Schilmoeller K, Wakahiro M, Barkovich AJ
Neurology 2005 Nov 8;65(9):1496-8. doi: 10.1212/01.wnl.0000183066.09239.b6. PMID: 16275846

Diagnosis

Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
Xie H, Su W, Pei J, Zhang Y, Gao K, Li J, Ma X, Zhang Y, Wu X, Jiang Y
Epilepsy Res 2019 Aug;154:55-61. Epub 2019 Apr 22 doi: 10.1016/j.eplepsyres.2019.04.005. PMID: 31054517
Li M, Maljevic S, Phillips AM, Petrovski S, Hildebrand MS, Burgess R, Mount T, Zara F, Striano P, Schubert J, Thiele H, Nürnberg P, Wong M, Weisenberg JL, Thio LL, Lerche H, Scheffer IE, Berkovic SF, Petrou S, Reid CA
Hum Mutat 2018 Feb;39(2):202-209. Epub 2017 Nov 13 doi: 10.1002/humu.23357. PMID: 29064616
Scheffer IE
Eur J Paediatr Neurol 2012 Sep;16 Suppl 1:S5-8. Epub 2012 Jun 16 doi: 10.1016/j.ejpn.2012.04.007. PMID: 22704920
Woods RJ, Gruenthal M
Epilepsy Behav 2006 Sep;9(2):360-2. Epub 2006 Jul 31 doi: 10.1016/j.yebeh.2006.06.015. PMID: 16877046

Therapy

Wu H, Liao K, Li Y, Tan Z, Zhou Z, Zeng C, Gong J, Wang H, Xu H, Hu Y
Front Endocrinol (Lausanne) 2024;15:1396912. Epub 2024 Nov 6 doi: 10.3389/fendo.2024.1396912. PMID: 39568813Free PMC Article
Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
Kim S, Park S, Choi TG, Kim SS
Nutrients 2022 Jul 21;14(14) doi: 10.3390/nu14142982. PMID: 35889939Free PMC Article
Hesdorffer DC, Tomson T
CNS Drugs 2013 Feb;27(2):113-9. doi: 10.1007/s40263-012-0006-1. PMID: 23109241
Reddy DS
Horm Behav 2013 Feb;63(2):254-66. Epub 2012 May 2 doi: 10.1016/j.yhbeh.2012.04.016. PMID: 22579656Free PMC Article

Prognosis

Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
Carmen C, Ibarra-Hernández JM, Estefania GP, Eguibar JR
Neurosci Lett 2022 Jun 21;782:136684. Epub 2022 May 17 doi: 10.1016/j.neulet.2022.136684. PMID: 35595190
Xie H, Su W, Pei J, Zhang Y, Gao K, Li J, Ma X, Zhang Y, Wu X, Jiang Y
Epilepsy Res 2019 Aug;154:55-61. Epub 2019 Apr 22 doi: 10.1016/j.eplepsyres.2019.04.005. PMID: 31054517
Scheffer IE
Eur J Paediatr Neurol 2012 Sep;16 Suppl 1:S5-8. Epub 2012 Jun 16 doi: 10.1016/j.ejpn.2012.04.007. PMID: 22704920
Everett KV, Chioza B, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dulac O, Eeg-Olofsson O, Feucht M, Friis M, Goutieres F, Guerrini R, Heils A, Kjeldsen M, Lehesjoki AE, Makoff A, Nabbout R, Olsson I, Sander T, Sirén A, McKeigue P, Robinson R, Taske N, Rees M, Gardiner M
Eur J Hum Genet 2007 Apr;15(4):463-72. Epub 2007 Jan 31 doi: 10.1038/sj.ejhg.5201783. PMID: 17264864Free PMC Article

Clinical prediction guides

Wu H, Liao K, Li Y, Tan Z, Zhou Z, Zeng C, Gong J, Wang H, Xu H, Hu Y
Front Endocrinol (Lausanne) 2024;15:1396912. Epub 2024 Nov 6 doi: 10.3389/fendo.2024.1396912. PMID: 39568813Free PMC Article
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G
Neurology 2024 Jan 23;102(2):e207945. Epub 2023 Dec 22 doi: 10.1212/WNL.0000000000207945. PMID: 38165337
Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
Xie H, Su W, Pei J, Zhang Y, Gao K, Li J, Ma X, Zhang Y, Wu X, Jiang Y
Epilepsy Res 2019 Aug;154:55-61. Epub 2019 Apr 22 doi: 10.1016/j.eplepsyres.2019.04.005. PMID: 31054517
Hesdorffer DC, Tomson T
CNS Drugs 2013 Feb;27(2):113-9. doi: 10.1007/s40263-012-0006-1. PMID: 23109241

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