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Progressive myoclonic epilepsy type 5

MedGen UID:
1681621
•Concept ID:
C5190799
•
Disease or Syndrome
Synonyms: EPM5; PME (progressive myoclonic epilepsy) type 5; PME type 5; Progressive myoclonus epilepsy type 5
SNOMED CT: Progressive myoclonus epilepsy type 5 (783055005); Progressive myoclonic epilepsy type 5 (783055005); PME (progressive myoclonic epilepsy) type 5 (783055005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Orphanet: ORPHA402082

Definition

A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures, generalised tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive myoclonic epilepsy type 5

Professional guidelines

PubMed

A systematic review of the efficacy of perampanel as treatment for myoclonic seizures and symptomatic myoclonus.
Mir A, Alghamdi A, Alotaibi W, Samreen D, Alotaibi M, Albaradie R, Bashir S
Epileptic Disord 2022 Aug 1;24(4):633-646. doi: 10.1684/epd.2022.1439. PMID: 35770766
Treatment of human cells derived from MERRF syndrome by peptide-mediated mitochondrial delivery.
Chang JC, Liu KH, Chuang CS, Su HL, Wei YH, Kuo SJ, Liu CS
Cytotherapy 2013 Dec;15(12):1580-96. doi: 10.1016/j.jcyt.2013.06.008. PMID: 24199594
In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.
Masucci JP, Davidson M, Koga Y, Schon EA, King MP
Mol Cell Biol 1995 May;15(5):2872-81. doi: 10.1128/MCB.15.5.2872. PMID: 7739567Free PMC Article

Recent clinical studies

Etiology

Negative myoclonus causes locomotory disability in progressive myoclonus epilepsy type EPM1- Unverricht-Lundborg disease.
Vogt H, Baisch T, Mueller-Pfeiffer C, Mothersill IW
Epileptic Disord 2023 Jun;25(3):297-308. Epub 2023 May 22 doi: 10.1002/epd2.20017. PMID: 37536959
A systematic review of the efficacy of perampanel as treatment for myoclonic seizures and symptomatic myoclonus.
Mir A, Alghamdi A, Alotaibi W, Samreen D, Alotaibi M, Albaradie R, Bashir S
Epileptic Disord 2022 Aug 1;24(4):633-646. doi: 10.1684/epd.2022.1439. PMID: 35770766
Clinical and molecular characterization of Unverricht-Lundborg disease among Egyptian patients.
Hosny H, El Tamawy M, Gouider R, Lesca G, Abdel Naseer M, Kishk N, Abdel-Hamid MS, Ashmawi A
Epilepsy Res 2021 Oct;176:106746. Epub 2021 Aug 25 doi: 10.1016/j.eplepsyres.2021.106746. PMID: 34474241
Children With Trisomy 21 and Lennox-Gastaut Syndrome With Predominant Myoclonic Seizures.
Macdonald M, Crawford J, Datta AN
J Child Neurol 2021 Oct;36(11):1027-1033. Epub 2021 Jul 27 doi: 10.1177/08830738211026072. PMID: 34315269
The Expanding Clinical Universe of Polyglutamine Disease.
Huang S, Zhu S, Li XJ, Li S
Neuroscientist 2019 Oct;25(5):512-520. Epub 2019 Jan 7 doi: 10.1177/1073858418822993. PMID: 30614396Free PMC Article

Diagnosis

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
Progressive myoclonic epilepsy type 1 (EPM1) patients present with abnormal (1)H MRS brain metabolic profiles associated with cognitive function.
Hyppönen J, Paanila V, Äikiä M, Koskenkorva P, Könönen M, Vanninen R, Mervaala E, Kälviäinen R, Hakumäki J
Neuroimage Clin 2023;39:103459. Epub 2023 Jul 3 doi: 10.1016/j.nicl.2023.103459. PMID: 37541097Free PMC Article
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
Lennox-Gastaut syndrome and epilepsy with myoclonic-astatic seizures.
Kaminska A, Oguni H
Handb Clin Neurol 2013;111:641-52. doi: 10.1016/B978-0-444-52891-9.00067-1. PMID: 23622212
Epilepsy in children.
Arnold ST, Dodson WE
Baillieres Clin Neurol 1996 Dec;5(4):783-802. PMID: 9068881

Therapy

A systematic review of the efficacy of perampanel as treatment for myoclonic seizures and symptomatic myoclonus.
Mir A, Alghamdi A, Alotaibi W, Samreen D, Alotaibi M, Albaradie R, Bashir S
Epileptic Disord 2022 Aug 1;24(4):633-646. doi: 10.1684/epd.2022.1439. PMID: 35770766
Long-term efficacy of low-dose perampanel for progressive myoclonus epilepsy in a patient with Gaucher disease type 3.
Tahara M, Higurashi N, Narita A, Ida H
Brain Dev 2022 Apr;44(4):308-312. Epub 2022 Jan 3 doi: 10.1016/j.braindev.2021.12.002. PMID: 34991910
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
Clinical features and genetics of progressive myoclonus epilepsy of the Univerricht-Lundborg type.
Lehesjoki AE, Koskiniemi M
Ann Med 1998 Oct;30(5):474-80. doi: 10.3109/07853899809002489. PMID: 9814834
Epilepsy in children.
Arnold ST, Dodson WE
Baillieres Clin Neurol 1996 Dec;5(4):783-802. PMID: 9068881

Prognosis

Negative myoclonus causes locomotory disability in progressive myoclonus epilepsy type EPM1- Unverricht-Lundborg disease.
Vogt H, Baisch T, Mueller-Pfeiffer C, Mothersill IW
Epileptic Disord 2023 Jun;25(3):297-308. Epub 2023 May 22 doi: 10.1002/epd2.20017. PMID: 37536959
Children With Trisomy 21 and Lennox-Gastaut Syndrome With Predominant Myoclonic Seizures.
Macdonald M, Crawford J, Datta AN
J Child Neurol 2021 Oct;36(11):1027-1033. Epub 2021 Jul 27 doi: 10.1177/08830738211026072. PMID: 34315269
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
Lennox-Gastaut syndrome and epilepsy with myoclonic-astatic seizures.
Kaminska A, Oguni H
Handb Clin Neurol 2013;111:641-52. doi: 10.1016/B978-0-444-52891-9.00067-1. PMID: 23622212
Epilepsy in children.
Arnold ST, Dodson WE
Baillieres Clin Neurol 1996 Dec;5(4):783-802. PMID: 9068881

Clinical prediction guides

Negative myoclonus causes locomotory disability in progressive myoclonus epilepsy type EPM1- Unverricht-Lundborg disease.
Vogt H, Baisch T, Mueller-Pfeiffer C, Mothersill IW
Epileptic Disord 2023 Jun;25(3):297-308. Epub 2023 May 22 doi: 10.1002/epd2.20017. PMID: 37536959
A systematic review of the efficacy of perampanel as treatment for myoclonic seizures and symptomatic myoclonus.
Mir A, Alghamdi A, Alotaibi W, Samreen D, Alotaibi M, Albaradie R, Bashir S
Epileptic Disord 2022 Aug 1;24(4):633-646. doi: 10.1684/epd.2022.1439. PMID: 35770766
Children With Trisomy 21 and Lennox-Gastaut Syndrome With Predominant Myoclonic Seizures.
Macdonald M, Crawford J, Datta AN
J Child Neurol 2021 Oct;36(11):1027-1033. Epub 2021 Jul 27 doi: 10.1177/08830738211026072. PMID: 34315269
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.
Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska AM, Korczyn AD, Bisulli F, Di Bonaventura C, Ragona F, Michelucci R, Ben-Zeev B, Straussberg R, Panzica F, Massano J, Friedman D, Crespel A, Engelsen BA, Andermann F, Andermann E, Spodar K, Lasek-Bal A, Riguzzi P, Pasini E, Tinuper P, Licchetta L, Gardella E, Lindenau M, Wulf A, Møller RS, Benninger F, Afawi Z, Rubboli G, Reid CA, Maljevic S, Lerche H, Lehesjoki AE, Petrou S, Berkovic SF
Ann Neurol 2017 May;81(5):677-689. doi: 10.1002/ana.24929. PMID: 28380698
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

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
Diagnosis and treatment of status epilepticus in Down Syndrome (DS): A case report and systematic literature review.
Corniello C, Dono F, Evangelista G, Thomas A, Onofrj M, Sensi SL
Seizure 2024 Jan;114:90-95. Epub 2023 Nov 20 doi: 10.1016/j.seizure.2023.11.009. PMID: 38101201
A systematic review of the efficacy of perampanel as treatment for myoclonic seizures and symptomatic myoclonus.
Mir A, Alghamdi A, Alotaibi W, Samreen D, Alotaibi M, Albaradie R, Bashir S
Epileptic Disord 2022 Aug 1;24(4):633-646. doi: 10.1684/epd.2022.1439. PMID: 35770766
Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.
Pondrelli F, Muccioli L, Licchetta L, Mostacci B, Zenesini C, Tinuper P, Vignatelli L, Bisulli F
Orphanet J Rare Dis 2021 Aug 16;16(1):362. doi: 10.1186/s13023-021-01989-w. PMID: 34399803Free PMC Article

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