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Epilepsy, childhood absence 4(ECA4)

MedGen UID:
369671
Concept ID:
C1970160
Finding
Synonyms: ECA4; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4
 
OMIM®: 137160; 611136

Definition

Childhood absence epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood, usually between ages 3 and 8. Affected children have absence seizures (also known as petit mal seizures), which are brief episodes of impaired consciousness that look like staring spells. During seizures, children are not aware of and do not respond to people or activities around them. The seizures usually last several seconds and they occur often, up to 200 times each day.

Some affected individuals have febrile seizures before they develop childhood absence epilepsy. Febrile seizures are involuntary muscle contractions (convulsions) brought on by a high body temperature (fever).

In most people with childhood absence epilepsy, the absence seizures disappear in adolescence. However, some affected individuals continue to have absence seizures into adulthood, or they may develop generalized tonic-clonic seizures, which cause muscle rigidity, convulsions, and loss of consciousness, or myoclonic seizures, which are characterized by rapid, uncontrolled muscle jerks. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Yamamoto T, Gil-Nagel A, Wheless JW, Kim JH, Wechsler RT
Epilepsy Behav 2022 Nov;136:108885. Epub 2022 Sep 21 doi: 10.1016/j.yebeh.2022.108885. PMID: 36150304
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu M, Jansen A, Scalais E, Srivastava S, Tan WH, Olson HE, Loddenkemper T, Poduri A, Helbig KL, Helbig I, Fitzgerald MP, Goldberg EM, Roser T, Borggraefe I, Brünger T, May P, Lal D, Lederer D, Rubboli G, Heyne HO, Lesca G, Hedrich UBS, Benda J, Gardella E, Lerche H, Møller RS
Brain 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. PMID: 34431999Free PMC Article
Zuberi SM, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes GH
Neurology 2011 Feb 15;76(7):594-600. Epub 2011 Jan 19 doi: 10.1212/WNL.0b013e31820c309b. PMID: 21248271

Recent clinical studies

Etiology

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
Olusanya BO, Smythe T, Ogbo FA, Nair MKC, Scher M, Davis AC
Front Public Health 2023;11:1122009. Epub 2023 Feb 16 doi: 10.3389/fpubh.2023.1122009. PMID: 36891340Free PMC Article
Chen B, Choi H, Hirsch LJ, Katz A, Legge A, Buchsbaum R, Detyniecki K
Epilepsy Behav 2017 Nov;76:24-31. Epub 2017 Sep 18 doi: 10.1016/j.yebeh.2017.08.039. PMID: 28931473
Zuberi SM, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes GH
Neurology 2011 Feb 15;76(7):594-600. Epub 2011 Jan 19 doi: 10.1212/WNL.0b013e31820c309b. PMID: 21248271
Doose H
Epilepsy Res Suppl 1992;6:163-8. PMID: 1418479

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
Millevert C, Weckhuysen S; ILAE Genetics Commission
Epileptic Disord 2023 Aug;25(4):445-453. Epub 2023 Jun 22 doi: 10.1002/epd2.20026. PMID: 36939707
Chen B, Choi H, Hirsch LJ, Katz A, Legge A, Buchsbaum R, Detyniecki K
Epilepsy Behav 2017 Nov;76:24-31. Epub 2017 Sep 18 doi: 10.1016/j.yebeh.2017.08.039. PMID: 28931473
Fisher RS, Cross JH, French JA, Higurashi N, Hirsch E, Jansen FE, Lagae L, Moshé SL, Peltola J, Roulet Perez E, Scheffer IE, Zuberi SM
Epilepsia 2017 Apr;58(4):522-530. Epub 2017 Mar 8 doi: 10.1111/epi.13670. PMID: 28276060
Doose H
Epilepsy Res Suppl 1992;6:163-8. PMID: 1418479

Therapy

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
Yamamoto T, Gil-Nagel A, Wheless JW, Kim JH, Wechsler RT
Epilepsy Behav 2022 Nov;136:108885. Epub 2022 Sep 21 doi: 10.1016/j.yebeh.2022.108885. PMID: 36150304
Nevitt SJ, Sudell M, Cividini S, Marson AG, Tudur Smith C
Cochrane Database Syst Rev 2022 Apr 1;4(4):CD011412. doi: 10.1002/14651858.CD011412.pub4. PMID: 35363878Free PMC Article
Chen B, Choi H, Hirsch LJ, Katz A, Legge A, Buchsbaum R, Detyniecki K
Epilepsy Behav 2017 Nov;76:24-31. Epub 2017 Sep 18 doi: 10.1016/j.yebeh.2017.08.039. PMID: 28931473
Verrotti A, Di Corcia G, Morgese G, Trotta D, Chiarelli F
Panminerva Med 2003 Dec;45(4):231-40. PMID: 15206164

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
Chen B, Choi H, Hirsch LJ, Katz A, Legge A, Buchsbaum R, Detyniecki K
Epilepsy Behav 2017 Nov;76:24-31. Epub 2017 Sep 18 doi: 10.1016/j.yebeh.2017.08.039. PMID: 28931473
Izumi K, Krantz ID
Am J Med Genet C Semin Med Genet 2014 Dec;166C(4):406-13. Epub 2014 Nov 25 doi: 10.1002/ajmg.c.31423. PMID: 25425112
Arnold ST, Dodson WE
Baillieres Clin Neurol 1996 Dec;5(4):783-802. PMID: 9068881
Doose H
Epilepsy Res Suppl 1992;6:163-8. PMID: 1418479

Clinical prediction guides

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
Pop-Jordanova N
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2019 May 1;40(1):5-40. doi: 10.2478/prilozi-2019-0001. PMID: 31152643
Chen B, Choi H, Hirsch LJ, Katz A, Legge A, Buchsbaum R, Detyniecki K
Epilepsy Behav 2017 Nov;76:24-31. Epub 2017 Sep 18 doi: 10.1016/j.yebeh.2017.08.039. PMID: 28931473
Zuberi SM, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes GH
Neurology 2011 Feb 15;76(7):594-600. Epub 2011 Jan 19 doi: 10.1212/WNL.0b013e31820c309b. PMID: 21248271
Fisher RS, Frost JJ
J Nucl Med 1991 Apr;32(4):651-9. PMID: 1849558

Recent systematic reviews

Chu H, Zhang X, Shi J, Zhou Z, Yang X
J Neurol 2023 Oct;270(10):4713-4728. Epub 2023 Jun 28 doi: 10.1007/s00415-023-11834-8. PMID: 37378757Free PMC Article
Olusanya BO, Smythe T, Ogbo FA, Nair MKC, Scher M, Davis AC
Front Public Health 2023;11:1122009. Epub 2023 Feb 16 doi: 10.3389/fpubh.2023.1122009. PMID: 36891340Free PMC Article
Nevitt SJ, Sudell M, Cividini S, Marson AG, Tudur Smith C
Cochrane Database Syst Rev 2022 Apr 1;4(4):CD011412. doi: 10.1002/14651858.CD011412.pub4. PMID: 35363878Free PMC Article
McTague A, Martland T, Appleton R
Cochrane Database Syst Rev 2018 Jan 10;1(1):CD001905. doi: 10.1002/14651858.CD001905.pub3. PMID: 29320603Free PMC Article
West S, Nolan SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2015 Jul 1;(7):CD010541. doi: 10.1002/14651858.CD010541.pub2. PMID: 26130264

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