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Epilepsy, childhood absence 2(ECA2)

MedGen UID:
334707
Concept ID:
C1843244
Finding
Synonyms: ECA2; Epilepsy, Childhood Absence, Susceptibility to, 2
 
OMIM®: 607681

Definition

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.

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. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Wirrell EC, Hood V, Knupp KG, Meskis MA, Nabbout R, Scheffer IE, Wilmshurst J, Sullivan J
Epilepsia 2022 Jul;63(7):1761-1777. Epub 2022 May 12 doi: 10.1111/epi.17274. PMID: 35490361Free PMC Article
Lefaucheur JP, Antal A, Ayache SS, Benninger DH, Brunelin J, Cogiamanian F, Cotelli M, De Ridder D, Ferrucci R, Langguth B, Marangolo P, Mylius V, Nitsche MA, Padberg F, Palm U, Poulet E, Priori A, Rossi S, Schecklmann M, Vanneste S, Ziemann U, Garcia-Larrea L, Paulus W
Clin Neurophysiol 2017 Jan;128(1):56-92. Epub 2016 Oct 29 doi: 10.1016/j.clinph.2016.10.087. PMID: 27866120
Varadkar S, Bien CG, Kruse CA, Jensen FE, Bauer J, Pardo CA, Vincent A, Mathern GW, Cross JH
Lancet Neurol 2014 Feb;13(2):195-205. doi: 10.1016/S1474-4422(13)70260-6. PMID: 24457189Free PMC Article

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
Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P
Seizure 2019 Oct;71:247-257. Epub 2019 Aug 23 doi: 10.1016/j.seizure.2019.08.012. PMID: 31476531Free PMC Article
Moosa ANV
Continuum (Minneap Minn) 2019 Apr;25(2):381-407. doi: 10.1212/CON.0000000000000712. PMID: 30921015
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

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
Hirsch E, French J, Scheffer IE, Bogacz A, Alsaadi T, Sperling MR, Abdulla F, Zuberi SM, Trinka E, Specchio N, Somerville E, Samia P, Riney K, Nabbout R, Jain S, Wilmshurst JM, Auvin S, Wiebe S, Perucca E, Moshé SL, Tinuper P, Wirrell EC
Epilepsia 2022 Jun;63(6):1475-1499. Epub 2022 May 3 doi: 10.1111/epi.17236. PMID: 35503716
Montouris G, Aboumatar S, Burdette D, Kothare S, Kuzniecky R, Rosenfeld W, Chung S
Epilepsy Behav 2020 Sep;110:107146. Epub 2020 Jun 18 doi: 10.1016/j.yebeh.2020.107146. PMID: 32563898
Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P
Seizure 2019 Oct;71:247-257. Epub 2019 Aug 23 doi: 10.1016/j.seizure.2019.08.012. PMID: 31476531Free 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

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
Samanta D
Brain Dev 2021 Jan;43(1):32-44. Epub 2020 Sep 4 doi: 10.1016/j.braindev.2020.08.014. PMID: 32893075Free PMC Article
Moosa ANV
Continuum (Minneap Minn) 2019 Apr;25(2):381-407. doi: 10.1212/CON.0000000000000712. PMID: 30921015
Hon KL, Leung AKC, Torres AR
Recent Pat Inflamm Allergy Drug Discov 2018;12(2):128-135. doi: 10.2174/1872213X12666180508122450. PMID: 29745347
Lefaucheur JP, Antal A, Ayache SS, Benninger DH, Brunelin J, Cogiamanian F, Cotelli M, De Ridder D, Ferrucci R, Langguth B, Marangolo P, Mylius V, Nitsche MA, Padberg F, Palm U, Poulet E, Priori A, Rossi S, Schecklmann M, Vanneste S, Ziemann U, Garcia-Larrea L, Paulus W
Clin Neurophysiol 2017 Jan;128(1):56-92. Epub 2016 Oct 29 doi: 10.1016/j.clinph.2016.10.087. PMID: 27866120

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
Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, Guerreiro M, Gwer S, Zuberi SM, Wilmshurst JM, Yozawitz E, Pressler R, Hirsch E, Wiebe S, Cross HJ, Perucca E, Moshé SL, Tinuper P, Auvin S
Epilepsia 2022 Jun;63(6):1398-1442. Epub 2022 May 3 doi: 10.1111/epi.17241. PMID: 35503717
Hirsch E, French J, Scheffer IE, Bogacz A, Alsaadi T, Sperling MR, Abdulla F, Zuberi SM, Trinka E, Specchio N, Somerville E, Samia P, Riney K, Nabbout R, Jain S, Wilmshurst JM, Auvin S, Wiebe S, Perucca E, Moshé SL, Tinuper P, Wirrell EC
Epilepsia 2022 Jun;63(6):1475-1499. Epub 2022 May 3 doi: 10.1111/epi.17236. PMID: 35503716
Zawar I, Knight EP
Pediatr Neurol 2021 Aug;121:75-80. Epub 2020 Dec 1 doi: 10.1016/j.pediatrneurol.2020.11.018. PMID: 34167046
Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P
Seizure 2019 Oct;71:247-257. Epub 2019 Aug 23 doi: 10.1016/j.seizure.2019.08.012. PMID: 31476531Free PMC Article

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
Zawar I, Knight EP
Pediatr Neurol 2021 Aug;121:75-80. Epub 2020 Dec 1 doi: 10.1016/j.pediatrneurol.2020.11.018. PMID: 34167046
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
Lux AL, Edwards SW, Hancock E, Johnson AL, Kennedy CR, Newton RW, O'Callaghan FJ, Verity CM, Osborne JP; United Kingdom Infantile Spasms Study
Lancet Neurol 2005 Nov;4(11):712-7. doi: 10.1016/S1474-4422(05)70199-X. PMID: 16239177

Recent systematic reviews

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
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free 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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