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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: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	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

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVProgressive myoclonic epilepsy

Disease
- Disorder by Site
  - Disorder of nervous system
    - Disorder of the central nervous system
      - Brain disorder
        Epilepsy
        Progressive myoclonic epilepsy
        Adult neuronal ceroid lipofuscinosis
        Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
        Ceroid lipofuscinosis, neuronal, 6A
        Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
        Neuronal ceroid lipofuscinosis 1
        Infantile neuronal ceroid lipofuscinosis
        Neuronal ceroid lipofuscinosis 10
        Neuronal ceroid lipofuscinosis 11
        Neuronal ceroid lipofuscinosis 13
        Congenital neuronal ceroid lipofuscinosis
        Early-onset Lafora body disease
        Epilepsy, progressive myoclonic, 1B
        Familial encephalopathy with neuroserpin inclusion bodies
        Progressive dementia with neuroserpin inclusion bodies
        Progressive myoclonic epilepsy with neuroserpin inclusion bodies
        Juvenile neuronal ceroid lipofuscinosis
        Neuronal ceroid lipofuscinosis 2
        Neuronal ceroid lipofuscinosis 3
        Neuronal ceroid lipofuscinosis 8
        Neuronal ceroid lipofuscinosis 9
        Lafora disease
        Myoclonic epilepsy of Lafora 1
        Myoclonic epilepsy of Lafora 2
        Late-infantile neuronal ceroid lipofuscinosis
        Neuronal ceroid lipofuscinosis 5
        Neuronal ceroid lipofuscinosis 7
        MERRF syndrome
        Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
        Progressive myoclonic epilepsy type 5
        Progressive myoclonic epilepsy type 6
        Progressive myoclonic epilepsy type 7
        Progressive myoclonic epilepsy type 8
        Progressive myoclonic epilepsy type 9
        Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
        Unverricht-Lundborg syndrome

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: 31939107 Free PMC Article

Lafora disease: from genotype to phenotype.

Parihar R, Rai A, Ganesh S
J Genet 2018 Jul;97(3):611-624. PMID: 30027899

See all (13)

Curated

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

Recent clinical studies

Etiology

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.

Zimmern V, Minassian B
Genes (Basel) 2024 Jan 27;15(2) doi: 10.3390/genes15020171. PMID: 38397161 Free PMC Article

AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.

Colucci F, Neri M, Fortunato F, Ferlini A, Carrozzo R, Torraco A, Lamantea E, Legati A, Tecilla G, Pugliatti M, Sensi M
Cerebellum 2023 Dec;22(6):1313-1319. Epub 2022 Nov 30 doi: 10.1007/s12311-022-01497-y. PMID: 36447112

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: 31476531 Free PMC Article

Dimeric quaternary structure of human laforin.

Sankhala RS, Koksal AC, Ho L, Nitschke F, Minassian BA, Cingolani G
J Biol Chem 2015 Feb 20;290(8):4552-4559. Epub 2014 Dec 23 doi: 10.1074/jbc.M114.627406. PMID: 25538239 Free PMC Article

Progressive myoclonic epilepsy.

Zupanc ML, Legros B
Cerebellum 2004;3(3):156-71. doi: 10.1080/14734220410035356. PMID: 15543806

See all (65)

Diagnosis

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.

Zimmern V, Minassian B
Genes (Basel) 2024 Jan 27;15(2) doi: 10.3390/genes15020171. PMID: 38397161 Free PMC Article

A diagnosis of progressive myoclonic ataxia guided by blood biomarkers.

Dubot P, Rafiq M, Curot J, Simonetta-Moreau M, Sabourdy F, Pettazzoni M, Froissart R, Levade T, Ory-Magne F
Parkinsonism Relat Disord 2022 Jan;94:124-126. Epub 2021 Jul 10 doi: 10.1016/j.parkreldis.2021.06.027. PMID: 34275752

The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.

Progressive myoclonic epilepsy.

Satishchandra P, Sinha S
Neurol India 2010 Jul-Aug;58(4):514-22. doi: 10.4103/0028-3886.68660. PMID: 20739785

Progressive myoclonic epilepsy.

Zupanc ML, Legros B
Cerebellum 2004;3(3):156-71. doi: 10.1080/14734220410035356. PMID: 15543806

See all (154)

Therapy

Progressive myoclonic epilepsy and horizontal gaze palsy: a rare aetiology.

Singh R, Choudhary A, Kumar AS, Goyal MK
BMJ Case Rep 2017 Dec 13;2017 doi: 10.1136/bcr-2017-222304. PMID: 29237663 Free 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

Seizure control in Unverricht-Lundborg disease: a single-centre study.

Roivainen R, Karvonen MK, Puumala T
Epileptic Disord 2014 Jun;16(2):191-5. doi: 10.1684/epd.2014.0654. PMID: 24777117

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: 17199029 Free PMC Article

See all (49)

Prognosis

Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.

Zimmern V, Minassian B
Genes (Basel) 2024 Jan 27;15(2) doi: 10.3390/genes15020171. PMID: 38397161 Free PMC Article

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.

Utility of Skin Biopsy in a Case of Progressive Myoclonic Epilepsy: Challenge.

Frantz T, Fortson E, Strowd LC
Am J Dermatopathol 2018 Sep;40(9):e123. doi: 10.1097/DAD.0000000000000924. PMID: 28692462

Seizure control in Unverricht-Lundborg disease: a single-centre study.

Roivainen R, Karvonen MK, Puumala T
Epileptic Disord 2014 Jun;16(2):191-5. doi: 10.1684/epd.2014.0654. PMID: 24777117

See all (64)

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

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

Selective deep brain stimulation in the substantia nigra reduces myoclonus in progressive myoclonic epilepsy: a novel observation and short review of the literature.

di Giacopo A, Baumann CR, Kurthen M, Capecchi F, Sürücü O, Imbach LL
Epileptic Disord 2019 Jun 1;21(3):283-288. doi: 10.1684/epd.2019.1072. PMID: 31225807

Van Bogaert P
Epileptic Disord 2016 Sep 1;18(S2):115-119. doi: 10.1684/epd.2016.0856. PMID: 27629772

Levetiracetam in progressive myoclonic epilepsy: an exploratory study in 9 patients.

Crest C, Dupont S, Leguern E, Adam C, Baulac M
Neurology 2004 Feb 24;62(4):640-3. doi: 10.1212/01.wnl.0000110193.78872.dd. PMID: 14981187

See all (70)

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

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: 37658439 Free 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

See all (5)

MedGen

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Progressive myoclonic epilepsy

Definition

Term Hierarchy

Professional guidelines

PubMed

Curated

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

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Curated

Consumer resources

Reviews

Related information

Recent activity