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Epilepsy, childhood absence 2(ECA2)

MedGen UID:
334707
Concept ID:
C1843244
Finding
Synonyms: ECA2; Epilepsy, Childhood Absence, Susceptibility to, 2
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
OMIM®: 607681

Definition

Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years. Many of these patients may later develop absence seizures, which may also spontaneously remit, whereas a few may continue to have various types of febrile and afebrile seizures that persist beyond childhood, consistent with GEFS+. There is phenotypic variability in the seizure type, even within a family carrying the same mutation, suggesting that other loci may be involved (summary by Singh et al., 1999 and Marini et al., 2003). For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see 121210. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. For a phenotypic description and discussion of genetic heterogeneity of childhood absence epilepsy, see 600131. [from OMIM]

Additional description

From MedlinePlus Genetics
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.\n\nSome 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).\n\nChildhood 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.  https://medlineplus.gov/genetics/condition/childhood-absence-epilepsy

Clinical features

From HPO
Febrile seizure (within the age range of 3 months to 6 years)
MedGen UID:
3232
Concept ID:
C0009952
Disease or Syndrome
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
Generalized tonic-clonic seizures
MedGen UID:
141670
Concept ID:
C0494475
Disease or Syndrome
A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.
EEG with polyspike wave complexes
MedGen UID:
867392
Concept ID:
C4021757
Finding
The presence of complexes of repetitive spikes and waves in EEG.
EEG with spike-wave complexes (>3.5 Hz)
MedGen UID:
892339
Concept ID:
C4023684
Finding
The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).
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.

Recent clinical studies

Etiology

Fujiwara H, Tenney J, Kadis DS, Altaye M, Spencer C, Vannest J
Epilepsy Res 2020 Oct;166:106407. Epub 2020 Jun 23 doi: 10.1016/j.eplepsyres.2020.106407. PMID: 32634725Free 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
Soto-Insuga V, López RG, Losada-Del Pozo R, Rodrigo-Moreno M, Cayuelas EM, Giráldez BG, Díaz-Gómez E, Sánchez-Martín G, García LO, Serratosa JM; Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI).
Epilepsy Res 2019 Aug;154:39-41. Epub 2019 Apr 21 doi: 10.1016/j.eplepsyres.2019.04.003. PMID: 31035243
Martínez-Ferrández C, Martínez-Salcedo E, Casas-Fernández C, Alarcón-Martínez H, Ibáñez-Micó S, Domingo-Jiménez R
Neurologia (Engl Ed) 2019 May;34(4):224-228. Epub 2017 Mar 18 doi: 10.1016/j.nrl.2016.12.005. PMID: 28325560
Cheng D, Yan X, Gao Z, Xu K, Zhou X, Chen Q
J Child Neurol 2017 Jan;32(1):46-52. Epub 2016 Sep 29 doi: 10.1177/0883073816668465. PMID: 27664195

Diagnosis

Stafstrom CE, Sun LR, Kossoff EH, Dabrowski AK, Singhi S, Kelley SA
Epilepsy Behav 2021 Feb;115:107404. Epub 2020 Dec 13 doi: 10.1016/j.yebeh.2020.107404. PMID: 33323339
Fujiwara H, Tenney J, Kadis DS, Altaye M, Spencer C, Vannest J
Epilepsy Res 2020 Oct;166:106407. Epub 2020 Jun 23 doi: 10.1016/j.eplepsyres.2020.106407. PMID: 32634725Free PMC Article
Drenthen GS, Fasen F, Fonseca Wald ELA, Backes WH, Aldenkamp AP, Vermeulen RJ, Debeij-van Hall M, Hendriksen J, Klinkenberg S, Jansen JFA
Neuroimage Clin 2020;27:102264. Epub 2020 Apr 23 doi: 10.1016/j.nicl.2020.102264. PMID: 32387851Free 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
Martínez-Ferrández C, Martínez-Salcedo E, Casas-Fernández C, Alarcón-Martínez H, Ibáñez-Micó S, Domingo-Jiménez R
Neurologia (Engl Ed) 2019 May;34(4):224-228. Epub 2017 Mar 18 doi: 10.1016/j.nrl.2016.12.005. PMID: 28325560

Therapy

Stafstrom CE, Sun LR, Kossoff EH, Dabrowski AK, Singhi S, Kelley SA
Epilepsy Behav 2021 Feb;115:107404. Epub 2020 Dec 13 doi: 10.1016/j.yebeh.2020.107404. PMID: 33323339
Gurbani S, Chayasirisobhon S, Gurbani A, McCall N
Acta Neurol Taiwan 2020 Jun;29(2):46-53. PMID: 32436202
Martínez-Ferrández C, Martínez-Salcedo E, Casas-Fernández C, Alarcón-Martínez H, Ibáñez-Micó S, Domingo-Jiménez R
Neurologia (Engl Ed) 2019 May;34(4):224-228. Epub 2017 Mar 18 doi: 10.1016/j.nrl.2016.12.005. PMID: 28325560
Verrotti A, D'Alonzo R, Rinaldi VE, Casciato S, D'Aniello A, Di Gennaro G
World J Pediatr 2017 Apr;13(2):106-111. Epub 2017 Jan 15 doi: 10.1007/s12519-017-0006-9. PMID: 28101769
Cheng D, Yan X, Gao Z, Xu K, Zhou X, Chen Q
J Child Neurol 2017 Jan;32(1):46-52. Epub 2016 Sep 29 doi: 10.1177/0883073816668465. PMID: 27664195

Prognosis

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
Martínez-Ferrández C, Martínez-Salcedo E, Casas-Fernández C, Alarcón-Martínez H, Ibáñez-Micó S, Domingo-Jiménez R
Neurologia (Engl Ed) 2019 May;34(4):224-228. Epub 2017 Mar 18 doi: 10.1016/j.nrl.2016.12.005. PMID: 28325560
Holtkamp M, Janz D, Kirschbaum A, Kowski AB, Vorderwülbecke BJ
J Neurol Neurosurg Psychiatry 2018 Jun;89(6):603-610. Epub 2018 Jan 18 doi: 10.1136/jnnp-2017-317052. PMID: 29348303
Glauser TA, Holland K, O'Brien VP, Keddache M, Martin LJ, Clark PO, Cnaan A, Dlugos D, Hirtz DG, Shinnar S, Grabowski G; Childhood Absence Epilepsy Study Group.
Ann Neurol 2017 Mar;81(3):444-453. doi: 10.1002/ana.24886. PMID: 28165634Free PMC Article
Verrotti A, D'Alonzo R, Rinaldi VE, Casciato S, D'Aniello A, Di Gennaro G
World J Pediatr 2017 Apr;13(2):106-111. Epub 2017 Jan 15 doi: 10.1007/s12519-017-0006-9. PMID: 28101769

Clinical prediction guides

Gurbani S, Chayasirisobhon S, Gurbani A, McCall N
Acta Neurol Taiwan 2020 Jun;29(2):46-53. PMID: 32436202
Drenthen GS, Fasen F, Fonseca Wald ELA, Backes WH, Aldenkamp AP, Vermeulen RJ, Debeij-van Hall M, Hendriksen J, Klinkenberg S, Jansen JFA
Neuroimage Clin 2020;27:102264. Epub 2020 Apr 23 doi: 10.1016/j.nicl.2020.102264. PMID: 32387851Free PMC Article
Datta AN, Wallbank L, Mak JCH, Wong PKH
J Child Neurol 2019 Oct;34(11):631-638. Epub 2019 May 22 doi: 10.1177/0883073819848639. PMID: 31113278
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
Youssofzadeh V, Agler W, Tenney JR, Kadis DS
Epilepsy Res 2018 Sep;145:102-109. Epub 2018 Jun 4 doi: 10.1016/j.eplepsyres.2018.06.001. PMID: 29936300

Recent systematic reviews

Brigo F, Igwe SC, Lattanzi S
Cochrane Database Syst Rev 2021 Jan 21;1:CD003032. doi: 10.1002/14651858.CD003032.pub5. PMID: 33475151Free PMC Article
Fonseca Wald ELA, Hendriksen JGM, Drenthen GS, Kuijk SMJV, Aldenkamp AP, Vles JSH, Vermeulen RJ, Debeij-van Hall MHJA, Klinkenberg S
Neuropsychol Rev 2019 Dec;29(4):421-449. Epub 2019 Nov 27 doi: 10.1007/s11065-019-09419-2. PMID: 31776780Free PMC Article
Brigo F, Igwe SC, Lattanzi S
Cochrane Database Syst Rev 2019 Feb 8;2:CD003032. doi: 10.1002/14651858.CD003032.pub4. PMID: 30734919Free PMC Article
Brigo F, Tavernelli V, Nardone R, Trinka E
Epileptic Disord 2018 Apr 1;20(2):123-131. doi: 10.1684/epd.2018.0961. PMID: 29620008
Brigo F, Igwe SC
Cochrane Database Syst Rev 2017 Feb 14;2:CD003032. doi: 10.1002/14651858.CD003032.pub3. PMID: 28195639Free PMC Article

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