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Juvenile absence epilepsy

MedGen UID:
1388059
Concept ID:
C4317339
Disease or Syndrome
Synonyms: Absence Epilepsy, Juvenile; Epilepsy Juvenile Absence; Epilepsy, Juvenile Absence; Juvenile Absence Epilepsy
SNOMED CT: Juvenile absence epilepsy (230413002); JAE - juvenile absence epilepsy (230413002)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0011876
OMIM® Phenotypic series: PS607631
Orphanet: ORPHA1941

Definition

A type of epilepsy that presents with typical absence seizures between 9 and 13 years of age in an otherwise normal adolescent. The typical absence seizures usually occur less than daily in the untreated state and are provoked by hyperventilation in 87 percent of cases. Generalized tonic-clonic seizures are seen in greater than 90 percent of cases, most commonly beginning shortly after onset of absence seizures. Myoclonic seizures do not occur. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave with a normal background. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVJuvenile absence epilepsy

Professional guidelines

PubMed

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
Thakran S, Guin D, Singh P, Singh P, Kukal S, Rawat C, Yadav S, Kushwaha SS, Srivastava AK, Hasija Y, Saso L, Ramachandran S, Kukreti R
Int J Mol Sci 2020 Oct 21;21(20) doi: 10.3390/ijms21207784. PMID: 33096746Free PMC Article
Kanner AM, Ashman E, Gloss D, Harden C, Bourgeois B, Bautista JF, Abou-Khalil B, Burakgazi-Dalkilic E, Llanas Park E, Stern J, Hirtz D, Nespeca M, Gidal B, Faught E, French J
Neurology 2018 Jul 10;91(2):74-81. Epub 2018 Jun 13 doi: 10.1212/WNL.0000000000005755. PMID: 29898971

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
Asadi-Pooya AA, Farazdaghi M
Seizure 2022 Nov;102:125-128. Epub 2022 Oct 6 doi: 10.1016/j.seizure.2022.10.008. PMID: 36223676
Thakran S, Guin D, Singh P, Singh P, Kukal S, Rawat C, Yadav S, Kushwaha SS, Srivastava AK, Hasija Y, Saso L, Ramachandran S, Kukreti R
Int J Mol Sci 2020 Oct 21;21(20) doi: 10.3390/ijms21207784. PMID: 33096746Free PMC Article
Tondelli M, Vaudano AE, Ruggieri A, Meletti S
Neuroimage Clin 2016;12:306-11. Epub 2016 Jul 18 doi: 10.1016/j.nicl.2016.07.007. PMID: 27551668Free PMC Article
Loiseau P, Duché B, Pédespan JM
Epilepsia 1995 Dec;36(12):1182-6. doi: 10.1111/j.1528-1157.1995.tb01060.x. PMID: 7489694

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
Asadi-Pooya AA, Farazdaghi M
Seizure 2022 Nov;102:125-128. Epub 2022 Oct 6 doi: 10.1016/j.seizure.2022.10.008. PMID: 36223676
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
Thakran S, Guin D, Singh P, Singh P, Kukal S, Rawat C, Yadav S, Kushwaha SS, Srivastava AK, Hasija Y, Saso L, Ramachandran S, Kukreti R
Int J Mol Sci 2020 Oct 21;21(20) doi: 10.3390/ijms21207784. PMID: 33096746Free PMC Article
Caraballo RH, Dalla Bernardina B
Handb Clin Neurol 2013;111:579-89. doi: 10.1016/B978-0-444-52891-9.00060-9. PMID: 23622205

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
Kanner AM, Ashman E, Gloss D, Harden C, Bourgeois B, Bautista JF, Abou-Khalil B, Burakgazi-Dalkilic E, Llanas Park E, Stern J, Hirtz D, Nespeca M, Gidal B, Faught E, French J
Neurology 2018 Jul 10;91(2):74-81. Epub 2018 Jun 13 doi: 10.1212/WNL.0000000000005755. PMID: 29898971
Tondelli M, Vaudano AE, Ruggieri A, Meletti S
Neuroimage Clin 2016;12:306-11. Epub 2016 Jul 18 doi: 10.1016/j.nicl.2016.07.007. PMID: 27551668Free PMC Article
Armijo JA, Shushtarian M, Valdizan EM, Cuadrado A, de las Cuevas I, Adín J
Curr Pharm Des 2005;11(15):1975-2003. doi: 10.2174/1381612054021006. PMID: 15974971
Porter RJ
Epilepsia 1993;34 Suppl 3:S42-8. doi: 10.1111/j.1528-1167.1993.tb06258.x. PMID: 8500432

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
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
Thakran S, Guin D, Singh P, Singh P, Kukal S, Rawat C, Yadav S, Kushwaha SS, Srivastava AK, Hasija Y, Saso L, Ramachandran S, Kukreti R
Int J Mol Sci 2020 Oct 21;21(20) doi: 10.3390/ijms21207784. PMID: 33096746Free PMC Article
Loiseau P, Duché B, Pédespan JM
Epilepsia 1995 Dec;36(12):1182-6. doi: 10.1111/j.1528-1157.1995.tb01060.x. PMID: 7489694
Porter RJ
Epilepsia 1993;34 Suppl 3:S42-8. doi: 10.1111/j.1528-1167.1993.tb06258.x. PMID: 8500432

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
Asadi-Pooya AA, Farazdaghi M
Seizure 2022 Nov;102:125-128. Epub 2022 Oct 6 doi: 10.1016/j.seizure.2022.10.008. PMID: 36223676
Vorderwülbecke BJ, Wandschneider B, Weber Y, Holtkamp M
Nat Rev Neurol 2022 Feb;18(2):71-83. Epub 2021 Nov 26 doi: 10.1038/s41582-021-00583-9. PMID: 34837042
Thakran S, Guin D, Singh P, Singh P, Kukal S, Rawat C, Yadav S, Kushwaha SS, Srivastava AK, Hasija Y, Saso L, Ramachandran S, Kukreti R
Int J Mol Sci 2020 Oct 21;21(20) doi: 10.3390/ijms21207784. PMID: 33096746Free PMC Article
Porter RJ
Epilepsia 1993;34 Suppl 3:S42-8. doi: 10.1111/j.1528-1167.1993.tb06258.x. PMID: 8500432

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
Torabian P, Dehestani M, Morshedi Rad D, Peiravi S, Aghaie-Hakkak M, Ashraf H
Arch Iran Med 2019 Sep 1;22(9):516-526. PMID: 31679374

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