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Progressive myoclonic epilepsy

MedGen UID:
199732
•Concept ID:
C0751778
•
Disease or Syndrome
Synonyms: Familial progressive myoclonic epilepsy; Myoclonic Epilepsies, Progressive; Myoclonus epilepsy; Progressive myoclonus epilepsy
SNOMED CT: Progressive myoclonic epilepsy (267581004)
 
Related genes: NHLRC1, PRICKLE1, EPM2A, CSTB
 
Monarch Initiative: MONDO:0020074
OMIM®: 310370
OMIM® Phenotypic series: PS254800
Orphanet: ORPHA98261

Definition

A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Progressive myoclonic epilepsy in Orphanet.

Professional guidelines

PubMed

IRF2BPL: A new genotype for progressive myoclonus epilepsies.
Costa C, Oliver KL, Calvello C, Cameron JM, Imperatore V, Tonelli L, Colavito D, Franceschetti S, Canafoglia L, Berkovic SF, Prontera P
Epilepsia 2023 Aug;64(8):e164-e169. Epub 2023 Mar 9 doi: 10.1111/epi.17557. PMID: 36810721
Drug Treatment of Progressive Myoclonic Epilepsy.
Holmes GL
Paediatr Drugs 2020 Apr;22(2):149-164. doi: 10.1007/s40272-019-00378-y. PMID: 31939107Free PMC Article
Lafora disease: from genotype to phenotype.
Parihar R, Rai A, Ganesh S
J Genet 2018 Jul;97(3):611-624. PMID: 30027899

Curated

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

Recent clinical studies

Etiology

IRF2BPL: A new genotype for progressive myoclonus epilepsies.
Costa C, Oliver KL, Calvello C, Cameron JM, Imperatore V, Tonelli L, Colavito D, Franceschetti S, Canafoglia L, Berkovic SF, Prontera P
Epilepsia 2023 Aug;64(8):e164-e169. Epub 2023 Mar 9 doi: 10.1111/epi.17557. PMID: 36810721
Drug Treatment of Progressive Myoclonic Epilepsy.
Holmes GL
Paediatr Drugs 2020 Apr;22(2):149-164. doi: 10.1007/s40272-019-00378-y. PMID: 31939107Free PMC Article
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P
Seizure 2019 Oct;71:247-257. Epub 2019 Aug 23 doi: 10.1016/j.seizure.2019.08.012. PMID: 31476531Free PMC Article
Progressive myoclonic epilepsy.
Zupanc ML, Legros B
Cerebellum 2004;3(3):156-71. doi: 10.1080/14734220410035356. PMID: 15543806
Progressive myoclonic epilepsies.
Conry JA
J Child Neurol 2002 Jan;17 Suppl 1:S80-4. doi: 10.1177/08830738020170011201. PMID: 11918469

Diagnosis

Neurophysiology of Juvenile and Progressive Myoclonic Epilepsy.
Acharya JN, Acharya VJ
J Clin Neurophysiol 2023 Feb 1;40(2):100-108. Epub 2022 Jun 30 doi: 10.1097/WNP.0000000000000913. PMID: 36735458
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P
Seizure 2019 Oct;71:247-257. Epub 2019 Aug 23 doi: 10.1016/j.seizure.2019.08.012. PMID: 31476531Free PMC Article
Progressive myoclonic epilepsy.
Satishchandra P, Sinha S
Neurol India 2010 Jul-Aug;58(4):514-22. doi: 10.4103/0028-3886.68660. PMID: 20739785
Clobazam.
Ng YT, Collins SD
Neurotherapeutics 2007 Jan;4(1):138-44. doi: 10.1016/j.nurt.2006.11.002. PMID: 17199029Free PMC Article
Progressive myoclonic epilepsy.
Zupanc ML, Legros B
Cerebellum 2004;3(3):156-71. doi: 10.1080/14734220410035356. PMID: 15543806

Therapy

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
Clobazam.
Ng YT, Collins SD
Neurotherapeutics 2007 Jan;4(1):138-44. doi: 10.1016/j.nurt.2006.11.002. PMID: 17199029Free PMC Article
Progressive myoclonic epilepsies.
Conry JA
J Child Neurol 2002 Jan;17 Suppl 1:S80-4. doi: 10.1177/08830738020170011201. PMID: 11918469
Zonisamide.
Leppik IE
Epilepsia 1999;40 Suppl 5:S23-9. doi: 10.1111/j.1528-1157.1999.tb00916.x. PMID: 10530691

Prognosis

Cortico-muscular coherence and brain networks in familial adult myoclonic epilepsy and progressive myoclonic epilepsy.
Franceschetti S, Visani E, Panzica F, Coppola A, Striano P, Canafoglia L
Clin Neurophysiol 2023 Jul;151:74-82. Epub 2023 May 10 doi: 10.1016/j.clinph.2023.04.009. PMID: 37216715
Neurophysiology of Juvenile and Progressive Myoclonic Epilepsy.
Acharya JN, Acharya VJ
J Clin Neurophysiol 2023 Feb 1;40(2):100-108. Epub 2022 Jun 30 doi: 10.1097/WNP.0000000000000913. PMID: 36735458
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P
Seizure 2019 Oct;71:247-257. Epub 2019 Aug 23 doi: 10.1016/j.seizure.2019.08.012. PMID: 31476531Free PMC Article
Myoclonic epilepsy in Down syndrome and Alzheimer disease.
Aller-Alvarez JS, Menéndez-González M, Ribacoba-Montero R, Salvado M, Vega V, Suárez-Moro R, Sueiras M, Toledo M, Salas-Puig J, Álvarez-Sabin J
Neurologia 2017 Mar;32(2):69-73. Epub 2015 Feb 7 doi: 10.1016/j.nrl.2014.12.008. PMID: 25661268
Progressive myoclonic epilepsies.
Conry JA
J Child Neurol 2002 Jan;17 Suppl 1:S80-4. doi: 10.1177/08830738020170011201. PMID: 11918469

Clinical prediction guides

Neurophysiology of Juvenile and Progressive Myoclonic Epilepsy.
Acharya JN, Acharya VJ
J Clin Neurophysiol 2023 Feb 1;40(2):100-108. Epub 2022 Jun 30 doi: 10.1097/WNP.0000000000000913. PMID: 36735458
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.
Lee MM, McDowell GSV, De Vivo DC, Friedman D, Berkovic SF, Spanou M, Dinopoulos A, Grand K, Sanchez-Lara PA, Allen-Sharpley M, Warman-Chardon J, Solyom A, Levade T, Schuchman EH, Bennett SAL, Dyment DA, Pearson TS
Ann Clin Transl Neurol 2022 Dec;9(12):1941-1952. Epub 2022 Nov 3 doi: 10.1002/acn3.51687. PMID: 36325744Free PMC Article
Wearable monitoring of positive and negative myoclonus in progressive myoclonic epilepsy type 1.
Rissanen SM, Hyppönen J, Silvennoinen K, Säisänen L, Karjalainen PA, Mervaala E, Kälviäinen R
Clin Neurophysiol 2021 Oct;132(10):2464-2472. Epub 2021 Jul 30 doi: 10.1016/j.clinph.2021.06.026. PMID: 34454274
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.
Hamanaka K, Imagawa E, Koshimizu E, Miyatake S, Tohyama J, Yamagata T, Miyauchi A, Ekhilevitch N, Nakamura F, Kawashima T, Goshima Y, Mohamed AR, Ch'ng GS, Fujita A, Azuma Y, Yasuda K, Imamura S, Nakashima M, Saitsu H, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Matsumoto N
Am J Hum Genet 2020 Apr 2;106(4):549-558. Epub 2020 Mar 12 doi: 10.1016/j.ajhg.2020.02.011. PMID: 32169168Free 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

Recent systematic reviews

KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
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
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
Pondrelli F, Minardi R, Muccioli L, Zenesini C, Vignatelli L, Licchetta L, Mostacci B, Tinuper P, Vander Kooi CW, Gentry MS, Bisulli F
Orphanet J Rare Dis 2023 Sep 2;18(1):263. doi: 10.1186/s13023-023-02880-6. PMID: 37658439Free PMC Article
Long Latency Reflexes in Clinical Neurology: A Systematic Review.
Dhar D, Kamble N, Pal PK
Can J Neurol Sci 2023 Sep;50(5):751-763. Epub 2022 Jul 8 doi: 10.1017/cjn.2022.270. PMID: 35801267
Transcranial magnetic stimulation in myoclonus of different aetiologies.
Nardone R, Versace V, Höller Y, Sebastianelli L, Brigo F, Lochner P, Golaszewski S, Saltuari L, Trinka E
Brain Res Bull 2018 Jun;140:258-269. Epub 2018 May 24 doi: 10.1016/j.brainresbull.2018.05.016. PMID: 29803873
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

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

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed
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