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Juvenile myoclonic epilepsy(EJM)

MedGen UID:
78738
Concept ID:
C0270853
Disease or Syndrome
Synonyms: EFHC1-Related Juvenile Myoclonic Epilepsy; EJM; Janz syndrome; Petit mal, impulsive
SNOMED CT: Juvenile myoclonic epilepsy (6204001); JME - Juvenile myoclonic epilepsy (6204001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
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.
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.
 
Related genes: EFHC1, GABRA1, CLCN2, CACNB4
 
Monarch Initiative: MONDO:0009696
OMIM®: 254770
OMIM® Phenotypic series: PS254770
Orphanet: ORPHA307

Definition

Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, stress, or alcohol consumption. [from MedlinePlus Genetics]

Term Hierarchy

Follow this link to review classifications for Juvenile myoclonic epilepsy in Orphanet.

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
Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386
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

Curated

UK NICE Guideline NG217, Epilepsies in children, young people and adults, 2022

Recent clinical studies

Etiology

Rainer LJ, Kuchukhidze G, Trinka E, Braun M, Kronbichler M, Langthaler P, Zimmermann G, Kronbichler L, Said-Yürekli S, Kirschner M, Zamarian L, Schmid E, Jokeit H, Höfler J
Epilepsia 2023 Dec;64(12):3319-3330. Epub 2023 Oct 18 doi: 10.1111/epi.17783. PMID: 37795683
Liu J, Tai YJ, Wang LN
Cochrane Database Syst Rev 2021 Nov 24;11(11):CD010008. doi: 10.1002/14651858.CD010008.pub5. PMID: 34817852Free PMC Article
Pietrafusa N, La Neve A, de Palma L, Boero G, Luisi C, Vigevano F, Specchio N
Brain Dev 2021 Jun;43(6):688-697. Epub 2021 Mar 27 doi: 10.1016/j.braindev.2021.02.005. PMID: 33781581
Liu J, Wang LN, Wang YP
Cochrane Database Syst Rev 2017 Apr 23;4(4):CD010008. doi: 10.1002/14651858.CD010008.pub3. PMID: 28434203Free PMC Article
Doose H
Epilepsy Res Suppl 1992;6:163-8. PMID: 1418479

Diagnosis

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
Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386
Xu L, Guo D, Liu YY, Qiao DD, Ye JY, Xue R
Epilepsy Behav 2018 Mar;80:326-330. Epub 2018 Jan 19 doi: 10.1016/j.yebeh.2017.11.008. PMID: 29358100
Baykan B, Wolf P
Seizure 2017 Jul;49:36-41. Epub 2017 May 18 doi: 10.1016/j.seizure.2017.05.011. PMID: 28544889
Genton P, Kasteleijn-Nolst Trenite DG
Epilepsy Behav 2013 Jul;28 Suppl 1:S1. doi: 10.1016/j.yebeh.2012.11.038. PMID: 23756472

Therapy

Cerulli Irelli E, Cocchi E, Morano A, Gesche J, Caraballo RH, Lattanzi S, Strigaro G, Catania C, Ferlazzo E, Pascarella A, Casciato S, Quarato P, Pizzanelli C, Pulitano P, Giuliano L, Viola V, Mostacci B, Fortunato F, Marini C, Di Gennaro G, Gambardella A, Labate A, Operto FF, Giallonardo AT, Baykan B, Beier CP, Di Bonaventura C; Women With Epilepsy Treatment Options and Research (WETOR) Study Group
JAMA Neurol 2023 Nov 1;80(11):1174-1181. doi: 10.1001/jamaneurol.2023.3400. PMID: 37782485Free PMC Article
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
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):82-90. Epub 2018 Jun 13 doi: 10.1212/WNL.0000000000005756. PMID: 29898974
Xu L, Guo D, Liu YY, Qiao DD, Ye JY, Xue R
Epilepsy Behav 2018 Mar;80:326-330. Epub 2018 Jan 19 doi: 10.1016/j.yebeh.2017.11.008. PMID: 29358100

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
Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386
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
Baykan B, Wolf P
Seizure 2017 Jul;49:36-41. Epub 2017 May 18 doi: 10.1016/j.seizure.2017.05.011. PMID: 28544889

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
Liu J, Tai YJ, Wang LN
Cochrane Database Syst Rev 2021 Nov 24;11(11):CD010008. doi: 10.1002/14651858.CD010008.pub5. PMID: 34817852Free PMC Article
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
Liu J, Wang LN, Wang YP
Cochrane Database Syst Rev 2017 Apr 23;4(4):CD010008. doi: 10.1002/14651858.CD010008.pub3. PMID: 28434203Free PMC Article
Schmitt B
Neuropediatrics 2015 Jun;46(3):171-80. Epub 2015 May 12 doi: 10.1055/s-0035-1551574. PMID: 25965811

Recent systematic reviews

Yetkin O, Zarowski M, Baykan B
Seizure 2024 Aug;120:61-71. Epub 2024 Jun 10 doi: 10.1016/j.seizure.2024.05.014. PMID: 38908143
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
Sanjari Moghaddam H, Sanjari Moghaddam A, Hasanzadeh A, Sanatian Z, Mafi A, Aarabi MH, Samimi M, Aghamollaii V, Gholipour T, Tafakhori A
Brain Imaging Behav 2022 Jun;16(3):1465-1494. Epub 2021 Nov 17 doi: 10.1007/s11682-021-00595-5. PMID: 34786666
Liu J, Tai YJ, Wang LN
Cochrane Database Syst Rev 2021 Nov 24;11(11):CD010008. doi: 10.1002/14651858.CD010008.pub5. PMID: 34817852Free PMC Article
Liu J, Wang LN, Wang YP
Cochrane Database Syst Rev 2017 Apr 23;4(4):CD010008. doi: 10.1002/14651858.CD010008.pub3. PMID: 28434203Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2022
      UK NICE Guideline NG217, Epilepsies in children, young people and adults, 2022

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