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Epilepsy, childhood absence, susceptibility to, 5(ECA5)

MedGen UID:
393654
Concept ID:
C2677087
Finding
Synonym: Epilepsy, childhood absence 5
 
Gene (location): GABRB3 (15q12)
 
Monarch Initiative: MONDO:0012843
OMIM®: 612269

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]

Clinical features

From HPO
Generalized non-motor (absence) seizure
MedGen UID:
1385688
Concept ID:
C4316903
Disease or Syndrome
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.

Professional guidelines

PubMed

Hesse AN, Bevilacqua J, Shankar K, Reddi HV
Epilepsy Res 2018 Aug;144:53-61. Epub 2018 May 16 doi: 10.1016/j.eplepsyres.2018.05.004. PMID: 29778030
Poduri A, Sheidley BR, Shostak S, Ottman R
Nat Rev Neurol 2014 May;10(5):293-9. Epub 2014 Apr 15 doi: 10.1038/nrneurol.2014.60. PMID: 24733164Free 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

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
Fortini S, Espeche A, Galicchio S, Cersósimo R, Chacon S, Gallo A, Gamboni B, Adi J, Fasulo L, Semprino M, Cachia P, Caraballo RH
Epilepsy Res 2021 Nov;177:106768. Epub 2021 Sep 17 doi: 10.1016/j.eplepsyres.2021.106768. PMID: 34547632
Galli J, Micheletti S, Malerba L, Fazzi E, Giordano L
Seizure 2018 Oct;61:1-3. Epub 2018 Jul 18 doi: 10.1016/j.seizure.2018.07.009. PMID: 30029089
Poduri A, Sheidley BR, Shostak S, Ottman R
Nat Rev Neurol 2014 May;10(5):293-9. Epub 2014 Apr 15 doi: 10.1038/nrneurol.2014.60. PMID: 24733164Free PMC Article
Kasteleijn-Nolst Trenité DG, Hirsch E
Epileptic Disord 2003 May;5 Suppl 1:S39-44. PMID: 12915340

Diagnosis

Incerti I, Fusco M, Contarino VE, Siggillino S, Conte G, Lanfranconi S, Bertani GA, Gaudino C, d'Orio P, Pallini R, D'Alessandris QG, Meessen JMTA, Nicolis EB, Vasamì A, Dejana E, Bianchi AM, Triulzi FM, Latini R, Scola E
Eur Radiol 2023 Jun;33(6):4158-4166. Epub 2023 Jan 5 doi: 10.1007/s00330-022-09366-2. PMID: 36602570
Galli J, Micheletti S, Malerba L, Fazzi E, Giordano L
Seizure 2018 Oct;61:1-3. Epub 2018 Jul 18 doi: 10.1016/j.seizure.2018.07.009. PMID: 30029089
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
Poduri A, Sheidley BR, Shostak S, Ottman R
Nat Rev Neurol 2014 May;10(5):293-9. Epub 2014 Apr 15 doi: 10.1038/nrneurol.2014.60. PMID: 24733164Free PMC Article
Covanis A
Epilepsia 2005;46 Suppl 9:67-72. doi: 10.1111/j.1528-1167.2005.00315.x. PMID: 16302877

Therapy

Galli J, Micheletti S, Malerba L, Fazzi E, Giordano L
Seizure 2018 Oct;61:1-3. Epub 2018 Jul 18 doi: 10.1016/j.seizure.2018.07.009. PMID: 30029089
Covanis A
Epilepsia 2005;46 Suppl 9:67-72. doi: 10.1111/j.1528-1167.2005.00315.x. PMID: 16302877
Radhakrishnan K, St Louis EK, Johnson JA, McClelland RL, Westmoreland BF, Klass DW
Epilepsia 2005 Jan;46(1):48-58. doi: 10.1111/j.0013-9580.2005.26604.x. PMID: 15660768
Kasteleijn-Nolst Trenité DG, Hirsch E
Epileptic Disord 2003 May;5 Suppl 1:S39-44. PMID: 12915340
Shouse MN, Lubar JF
Biofeedback Self Regul 1979 Dec;4(4):299-312. doi: 10.1007/BF00998960. PMID: 526475

Prognosis

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
Poduri A, Sheidley BR, Shostak S, Ottman R
Nat Rev Neurol 2014 May;10(5):293-9. Epub 2014 Apr 15 doi: 10.1038/nrneurol.2014.60. PMID: 24733164Free PMC Article
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
Kasteleijn-Nolst Trenité DG, Hirsch E
Epileptic Disord 2003 May;5 Suppl 1:S39-44. PMID: 12915340
Kananura C, Haug K, Sander T, Runge U, Gu W, Hallmann K, Rebstock J, Heils A, Steinlein OK
Arch Neurol 2002 Jul;59(7):1137-41. doi: 10.1001/archneur.59.7.1137. PMID: 12117362

Clinical prediction guides

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
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
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
Everett K, Chioza B, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dooley J, Dulac O, Durner M, Eeg-Olofsson O, Feucht M, Friis M, Guerrini R, Heils A, Kjeldsen M, Nabbout R, Sander T, Wirrell E, McKeigue P, Robinson R, Taske N, Gardiner M
Epilepsy Res 2007 Jul;75(2-3):145-53. Epub 2007 Jun 18 doi: 10.1016/j.eplepsyres.2007.05.004. PMID: 17580110
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

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