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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

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
Holmes GL
Paediatr Drugs 2020 Apr;22(2):149-164. doi: 10.1007/s40272-019-00378-y. PMID: 31939107Free PMC Article
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

Zimmern V, Minassian B
Genes (Basel) 2024 Jan 27;15(2) doi: 10.3390/genes15020171. PMID: 38397161Free PMC Article
Holmes GL
Paediatr Drugs 2020 Apr;22(2):149-164. doi: 10.1007/s40272-019-00378-y. PMID: 31939107Free PMC Article
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
Kızıltan ME, Gündüz A, Coşkun T, Delil Ş, Pazarcı N, Özkara Ç, Yeni N
Clin EEG Neurosci 2017 Mar;48(2):123-129. Epub 2016 Jul 10 doi: 10.1177/1550059416646292. PMID: 27170668
Zupanc ML, Legros B
Cerebellum 2004;3(3):156-71. doi: 10.1080/14734220410035356. PMID: 15543806

Diagnosis

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
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
Satishchandra P, Sinha S
Neurol India 2010 Jul-Aug;58(4):514-22. doi: 10.4103/0028-3886.68660. PMID: 20739785
Ng YT, Collins SD
Neurotherapeutics 2007 Jan;4(1):138-44. doi: 10.1016/j.nurt.2006.11.002. PMID: 17199029Free PMC Article
Zupanc ML, Legros B
Cerebellum 2004;3(3):156-71. doi: 10.1080/14734220410035356. PMID: 15543806

Therapy

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
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
Coppola A, Moshé SL
Handb Clin Neurol 2012;107:63-98. doi: 10.1016/B978-0-444-52898-8.00004-5. PMID: 22938964
Ng YT, Collins SD
Neurotherapeutics 2007 Jan;4(1):138-44. doi: 10.1016/j.nurt.2006.11.002. PMID: 17199029Free PMC Article
Conry JA
J Child Neurol 2002 Jan;17 Suppl 1:S80-4. doi: 10.1177/08830738020170011201. PMID: 11918469

Prognosis

Zimmern V, Minassian B
Genes (Basel) 2024 Jan 27;15(2) doi: 10.3390/genes15020171. PMID: 38397161Free PMC Article
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
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
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
Conry JA
J Child Neurol 2002 Jan;17 Suppl 1:S80-4. doi: 10.1177/08830738020170011201. PMID: 11918469

Clinical prediction guides

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
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
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
Sone D, Beheshti I, Maikusa N, Ota M, Kimura Y, Sato N, Koepp M, Matsuda H
Mol Psychiatry 2021 Mar;26(3):825-834. Epub 2019 Jun 3 doi: 10.1038/s41380-019-0446-9. PMID: 31160692Free PMC Article
Van Bogaert P
Epileptic Disord 2016 Sep 1;18(S2):115-119. doi: 10.1684/epd.2016.0856. PMID: 27629772

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
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
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
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
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

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