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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

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
Oguni H
Eur J Paediatr Neurol 2022 Jan;36:37-50. Epub 2021 Dec 1 doi: 10.1016/j.ejpn.2021.11.009. PMID: 34883415
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

Zimmern V, Minassian B
Genes (Basel) 2024 Jan 27;15(2) doi: 10.3390/genes15020171. PMID: 38397161Free PMC Article
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
Dravet C, Bureau M
Adv Neurol 2005;95:127-37. PMID: 15508918
Zupanc ML, Legros B
Cerebellum 2004;3(3):156-71. doi: 10.1080/14734220410035356. PMID: 15543806
Doose H
Epilepsy Res Suppl 1992;6:163-8. PMID: 1418479

Diagnosis

Zimmern V, Minassian B
Genes (Basel) 2024 Jan 27;15(2) doi: 10.3390/genes15020171. PMID: 38397161Free PMC Article
Ascoli M, Mastroianni G, Gasparini S, Striano P, Cianci V, Neri S, Bova V, Mammì A, Gambardella A, Labate A, Aguglia U, Ferlazzo E
Expert Rev Neurother 2021 Nov;21(11):1265-1273. Epub 2021 May 25 doi: 10.1080/14737175.2021.1931126. PMID: 33993822
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
Buchanan N
J Paediatr Child Health 1995 Aug;31(4):267-8. doi: 10.1111/j.1440-1754.1995.tb00807.x. PMID: 7576878

Therapy

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
Boop S, Wheless J, Van Poppel K, McGregor A, Boop FA
J Neurosurg Pediatr 2013 Sep;12(3):288-92. Epub 2013 Jun 28 doi: 10.3171/2013.5.PEDS1394. PMID: 23808728
Morrison N, Thomas R, Smith P
BMJ 2012 Jan 26;344:e360. doi: 10.1136/bmj.e360. PMID: 22282530
Chiron C
Neurotherapeutics 2007 Jan;4(1):123-5. doi: 10.1016/j.nurt.2006.10.001. PMID: 17199026Free PMC Article
Cavazzuti GB
Neurol Sci 2003 Oct;24 Suppl 4:S244-5. doi: 10.1007/s10072-003-0087-1. PMID: 14598052

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

Gallagher D, Pérez-Palma E, Bruenger T, Ghanty I, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Zuberi SM, Lal D, Brunklaus A
Epilepsia 2024 Apr;65(4):1046-1059. Epub 2024 Feb 27 doi: 10.1111/epi.17882. PMID: 38410936
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
Ishiura H, Tsuji S
Curr Opin Genet Dev 2020 Dec;65:176-185. Epub 2020 Aug 7 doi: 10.1016/j.gde.2020.05.029. PMID: 32777681
Van Bogaert P
Epileptic Disord 2016 Sep 1;18(S2):115-119. doi: 10.1684/epd.2016.0856. PMID: 27629772
Franceschetti S, Canafoglia L
Epileptic Disord 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. PMID: 27621198

Recent systematic reviews

Yoganathan S, Whitney R, Thomas M, Danda S, Chettali AM, Prasad AN, Farhan SMK, AlSowat D, Abukhaled M, Aldhalaan H, Gowda VK, Kinhal UV, Bylappa AY, Konanki R, Lingappa L, Parchuri BM, Appendino JP, Scantlebury MH, Cunningham J, Hadjinicolaou A, El Achkar CM, Kamate M, Menon RN, Jose M, Riordan G, Kannan L, Jain V, Manokaran RK, Chau V, Donner EJ, Costain G, Minassian BA, Jain P
Epilepsia 2024 Mar;65(3):709-724. Epub 2024 Jan 17 doi: 10.1111/epi.17880. PMID: 38231304
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
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
Loughman A, Bowden SC, D'Souza W
Neurosci Biobehav Rev 2014 Jun;43:20-34. Epub 2014 Mar 14 doi: 10.1016/j.neubiorev.2014.02.012. PMID: 24631851

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