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Epilepsy, childhood absence, susceptibility to, 6(ECA6)

MedGen UID:
440896
Concept ID:
C2749872
Finding
Synonym: Epilepsy, childhood absence 6
 
Gene (location): CACNA1H (16p13.3)
 
Monarch Initiative: MONDO:0012763
OMIM®: 611942

Definition

Childhood absence epilepsy is a subtype of idiopathic generalized epilepsy. For a general phenotypic description and a discussion of genetic heterogeneity of childhood absence epilepsy and idiopathic generalized epilepsy, see ECA1 (600131) and (600669), respectively. [from OMIM]

Additional description

From MedlinePlus Genetics
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).

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.

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.  https://medlineplus.gov/genetics/condition/childhood-absence-epilepsy

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
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
Shouse MN, Lubar JF
Biofeedback Self Regul 1979 Dec;4(4):299-312. doi: 10.1007/BF00998960. PMID: 526475

Recent clinical studies

Etiology

Tang P, Guo X, Chong L, Li R
Front Immunol 2023;14:1071580. Epub 2023 Feb 13 doi: 10.3389/fimmu.2023.1071580. PMID: 36860869Free 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
Mullen SA, Berkovic SF; ILAE Genetics Commission
Epilepsia 2018 Jun;59(6):1148-1153. Epub 2018 May 9 doi: 10.1111/epi.14042. PMID: 29741207
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
Minassian BA, Sainz J, Delgado-Escueta AV
Clin Neurosci 1995-1996;3(4):223-35. PMID: 8891396

Diagnosis

Tang P, Guo X, Chong L, Li R
Front Immunol 2023;14:1071580. Epub 2023 Feb 13 doi: 10.3389/fimmu.2023.1071580. PMID: 36860869Free 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
Mullen SA, Berkovic SF; ILAE Genetics Commission
Epilepsia 2018 Jun;59(6):1148-1153. Epub 2018 May 9 doi: 10.1111/epi.14042. PMID: 29741207
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
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

Therapy

Tang P, Guo X, Chong L, Li R
Front Immunol 2023;14:1071580. Epub 2023 Feb 13 doi: 10.3389/fimmu.2023.1071580. PMID: 36860869Free PMC Article
Yim SH, Choi YH, Heo K, Cho KH
BMC Neurol 2019 Nov 18;19(1):292. doi: 10.1186/s12883-019-1519-8. PMID: 31739779Free PMC Article
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
Hughes JR
Epilepsy Behav 2009 Aug;15(4):404-12. Epub 2009 Jul 24 doi: 10.1016/j.yebeh.2009.06.007. PMID: 19632158
Abduljabbar M, Ogunniyi A, Daif AK, Al-Tahan A, Al-Bunyan M, Al-Rajeh S
Seizure 1998 Dec;7(6):501-4. doi: 10.1016/s1059-1311(98)80010-1. PMID: 9888496

Prognosis

Zhang L, Gao J, Liu H, Tian Y, Zhang X, Lei W, Li Y, Guo Y, Yu H, Yuan E, Liang L, Cui S, Zhang X
Hum Genomics 2020 Dec 7;14(1):44. doi: 10.1186/s40246-020-00294-0. PMID: 33287870Free PMC Article
Sadleir LG, de Valles-Ibáñez G, King C, Coleman M, Mossman S, Paterson S, Nguyen J, Berkovic SF, Mullen S, Bahlo M, Hildebrand MS, Mefford HC, Scheffer IE
Epilepsia 2020 Apr;61(4):e23-e29. Epub 2020 Mar 12 doi: 10.1111/epi.16475. PMID: 32162308Free 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
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
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

Clinical prediction guides

Tang P, Guo X, Chong L, Li R
Front Immunol 2023;14:1071580. Epub 2023 Feb 13 doi: 10.3389/fimmu.2023.1071580. PMID: 36860869Free PMC Article
Calhoun JD, Huffman AM, Bellinski I, Kinsley L, Bachman E, Gerard E, Kearney JA, Carvill GL
Hum Mutat 2020 Jun;41(6):1138-1144. Epub 2020 Apr 14 doi: 10.1002/humu.24017. PMID: 32227660Free PMC Article
Sadleir LG, de Valles-Ibáñez G, King C, Coleman M, Mossman S, Paterson S, Nguyen J, Berkovic SF, Mullen S, Bahlo M, Hildebrand MS, Mefford HC, Scheffer IE
Epilepsia 2020 Apr;61(4):e23-e29. Epub 2020 Mar 12 doi: 10.1111/epi.16475. PMID: 32162308Free 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
Alshahawy AK, Darwish AH, Elsaid Shalaby S, Mawlana W
Brain Dev 2018 Apr;40(4):278-286. Epub 2017 Dec 30 doi: 10.1016/j.braindev.2017.12.009. PMID: 29295801

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