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myoclonic epilepsy

MedGen UID:
4988
•Concept ID:
C0014550
•
Disease or Syndrome
Synonyms: Epilepsies, Myoclonic; Epilepsy, Myoclonic; Epilepsy, Myoclonus; Myoclonic Epilepsies; Myoclonic Epilepsy; Myoclonic Seizure Disorder; Myoclonic Seizure Disorders; Myoclonus Epilepsies; Myoclonus Epilepsy; Seizure Disorder, Myoclonic; Seizure Disorders, Myoclonic

Definition

A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • myoclonic epilepsy

Professional guidelines

PubMed

ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions.
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
Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.
Bayat A, Bayat M, Rubboli G, Møller RS
Genes (Basel) 2021 Jul 8;12(7) doi: 10.3390/genes12071051. PMID: 34356067Free PMC Article
Epilepsy: Epileptic Syndromes and Treatment.
Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386

Recent clinical studies

Etiology

Common pediatric epilepsy syndromes.
Park JT, Shahid AM, Jammoul A
Pediatr Ann 2015 Feb;44(2):e30-5. doi: 10.3928/00904481-20150203-09. PMID: 25658216
Neuronal ceroid lipofuscinoses.
Chabrol B, Caillaud C, Minassian B
Handb Clin Neurol 2013;113:1701-6. doi: 10.1016/B978-0-444-59565-2.00038-1. PMID: 23622391
Progressive myoclonic epilepsy.
Zupanc ML, Legros B
Cerebellum 2004;3(3):156-71. doi: 10.1080/14734220410035356. PMID: 15543806
Myoclonus and epilepsies.
Fejerman N
Indian J Pediatr 1997 Sep-Oct;64(5):583-602. doi: 10.1007/BF02726110. PMID: 10771893
Myoclonic-astatic epilepsy.
Doose H
Epilepsy Res Suppl 1992;6:163-8. PMID: 1418479

Diagnosis

Juvenile myoclonic epilepsy and sleep.
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
Juvenile myoclonic epilepsy as a spectrum disorder: A focused review.
Baykan B, Wolf P
Seizure 2017 Jul;49:36-41. Epub 2017 May 18 doi: 10.1016/j.seizure.2017.05.011. PMID: 28544889
Idiopathic generalized epilepsies.
Caraballo RH, Dalla Bernardina B
Handb Clin Neurol 2013;111:579-89. doi: 10.1016/B978-0-444-52891-9.00060-9. PMID: 23622205
Progressive myoclonic epilepsy.
Satishchandra P, Sinha S
Neurol India 2010 Jul-Aug;58(4):514-22. doi: 10.4103/0028-3886.68660. PMID: 20739785
Myoclonic-astatic epilepsy.
Doose H
Epilepsy Res Suppl 1992;6:163-8. PMID: 1418479

Therapy

Antiseizure medications for idiopathic generalized epilepsies: a systematic review and network meta-analysis.
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
Juvenile myoclonic epilepsy and sleep.
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
Clinical trials of N-acetylcysteine in psychiatry and neurology: A systematic review.
Deepmala, Slattery J, Kumar N, Delhey L, Berk M, Dean O, Spielholz C, Frye R
Neurosci Biobehav Rev 2015 Aug;55:294-321. Epub 2015 May 6 doi: 10.1016/j.neubiorev.2015.04.015. PMID: 25957927
Animal models.
Coppola A, Moshé SL
Handb Clin Neurol 2012;107:63-98. doi: 10.1016/B978-0-444-52898-8.00004-5. PMID: 22938964
Infantile encephalopathies.
Cavazzuti GB
Neurol Sci 2003 Oct;24 Suppl 4:S244-5. doi: 10.1007/s10072-003-0087-1. PMID: 14598052

Prognosis

Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.
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
ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions.
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
Epilepsy: Epileptic Syndromes and Treatment.
Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
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
Juvenile myoclonic epilepsy as a spectrum disorder: A focused review.
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

Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.
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
KCTD7-related progressive myoclonus epilepsy.
Van Bogaert P
Epileptic Disord 2016 Sep 1;18(S2):115-119. doi: 10.1684/epd.2016.0856. PMID: 27629772
Sialidoses.
Franceschetti S, Canafoglia L
Epileptic Disord 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. PMID: 27621198
Sleep and epilepsy syndromes.
Schmitt B
Neuropediatrics 2015 Jun;46(3):171-80. Epub 2015 May 12 doi: 10.1055/s-0035-1551574. PMID: 25965811
Dravet syndrome history.
Dravet C
Dev Med Child Neurol 2011 Apr;53 Suppl 2:1-6. doi: 10.1111/j.1469-8749.2011.03964.x. PMID: 21504424

Recent systematic reviews

Antiseizure medications for idiopathic generalized epilepsies: a systematic review and network meta-analysis.
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
A systematic review of resting-state and task-based fmri in juvenile myoclonic epilepsy.
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
Topiramate for juvenile myoclonic epilepsy.
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
Topiramate monotherapy for juvenile myoclonic epilepsy.
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
Clinical trials of N-acetylcysteine in psychiatry and neurology: A systematic review.
Deepmala, Slattery J, Kumar N, Delhey L, Berk M, Dean O, Spielholz C, Frye R
Neurosci Biobehav Rev 2015 Aug;55:294-321. Epub 2015 May 6 doi: 10.1016/j.neubiorev.2015.04.015. PMID: 25957927

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