Perampanel Improves Cortical Myoclonus and Disability in Progressive Myoclonic Epilepsies: A Case Series and a Systematic Review of the Literature
Introduction: Progressive myoclonic epilepsies (PMEs) are a heterogenous group of genetic diseases presenting with epilepsy, cognitive impairment, and severe action myoclonus, which can severely affect daily life activities and independent walking ability. Perampanel is a recent commercially availab...
Saved in:
| Published in | Frontiers in neurology Vol. 12; p. 630366 |
|---|---|
| Main Authors | , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Switzerland
Frontiers Media S.A
24.03.2021
|
| Subjects | |
| Online Access | Get full text |
| ISSN | 1664-2295 1664-2295 |
| DOI | 10.3389/fneur.2021.630366 |
Cover
| Abstract | Introduction:
Progressive myoclonic epilepsies (PMEs) are a heterogenous group of genetic diseases presenting with epilepsy, cognitive impairment, and severe action myoclonus, which can severely affect daily life activities and independent walking ability. Perampanel is a recent commercially available antiseizure medication with high efficacy against generalized seizures. Some reports supported the role of perampanel in ameliorating action myoclonus in PMEs. Here, we aimed to describe a case series and provide a systematic literature review on perampanel effects on PMEs.
Methods:
We report the perampanel effectiveness on myoclonus, daily life activities, and seizures on an original Italian multicenter case series of 11 individuals with PMEs. Then, using the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines, we performed a systematic review on perampanel effect on myoclonus and disability in PMEs. We searched PubMed, Scopus, and Google Scholar articles on perampanel and PMEs up to June 2020. No prospective trials were found. We reviewed 11 case series manuscripts reporting 104 cases of different PMEs.
Results:
Here, we are reporting the effectiveness of perampanel in five individuals affected by Unverricht–Lundborg disease, three by Lafora disease, two by sialidosis, and one by an undetermined PME. Nine out of 11 individuals improved their disability related to the action myoclonus (two with Lafora disease did not). Among the 104 persons with PMEs collected by the systematic review, we found that more than half of the patients receiving perampanel exhibited an amelioration of action myoclonus and, consequently, of their independence in daily life activities. The Unverricht–Lundborg disease seemed to show the best clinical response to perampanel, in comparison with the other more severe PMEs. A significant seizure reduction was achieved by almost all persons with active epilepsy. Only 11% of PME patients dropped out due to inefficacy.
Conclusions:
Perampanel demonstrated a beneficial effect with regard to action myoclonus, disability, and seizures and was well-tolerated in people with PMEs, independently from their genetic diagnosis. Given the limited scientific evidence, broader prospective trials should be encouraged. |
|---|---|
| AbstractList | Introduction: Progressive myoclonic epilepsies (PMEs) are a heterogenous group of genetic diseases presenting with epilepsy, cognitive impairment, and severe action myoclonus, which can severely affect daily life activities and independent walking ability. Perampanel is a recent commercially available antiseizure medication with high efficacy against generalized seizures. Some reports supported the role of perampanel in ameliorating action myoclonus in PMEs. Here, we aimed to describe a case series and provide a systematic literature review on perampanel effects on PMEs. Methods: We report the perampanel effectiveness on myoclonus, daily life activities, and seizures on an original Italian multicenter case series of 11 individuals with PMEs. Then, using the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines, we performed a systematic review on perampanel effect on myoclonus and disability in PMEs. We searched PubMed, Scopus, and Google Scholar articles on perampanel and PMEs up to June 2020. No prospective trials were found. We reviewed 11 case series manuscripts reporting 104 cases of different PMEs. Results: Here, we are reporting the effectiveness of perampanel in five individuals affected by Unverricht-Lundborg disease, three by Lafora disease, two by sialidosis, and one by an undetermined PME. Nine out of 11 individuals improved their disability related to the action myoclonus (two with Lafora disease did not). Among the 104 persons with PMEs collected by the systematic review, we found that more than half of the patients receiving perampanel exhibited an amelioration of action myoclonus and, consequently, of their independence in daily life activities. The Unverricht-Lundborg disease seemed to show the best clinical response to perampanel, in comparison with the other more severe PMEs. A significant seizure reduction was achieved by almost all persons with active epilepsy. Only 11% of PME patients dropped out due to inefficacy. Conclusions: Perampanel demonstrated a beneficial effect with regard to action myoclonus, disability, and seizures and was well-tolerated in people with PMEs, independently from their genetic diagnosis. Given the limited scientific evidence, broader prospective trials should be encouraged.Introduction: Progressive myoclonic epilepsies (PMEs) are a heterogenous group of genetic diseases presenting with epilepsy, cognitive impairment, and severe action myoclonus, which can severely affect daily life activities and independent walking ability. Perampanel is a recent commercially available antiseizure medication with high efficacy against generalized seizures. Some reports supported the role of perampanel in ameliorating action myoclonus in PMEs. Here, we aimed to describe a case series and provide a systematic literature review on perampanel effects on PMEs. Methods: We report the perampanel effectiveness on myoclonus, daily life activities, and seizures on an original Italian multicenter case series of 11 individuals with PMEs. Then, using the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines, we performed a systematic review on perampanel effect on myoclonus and disability in PMEs. We searched PubMed, Scopus, and Google Scholar articles on perampanel and PMEs up to June 2020. No prospective trials were found. We reviewed 11 case series manuscripts reporting 104 cases of different PMEs. Results: Here, we are reporting the effectiveness of perampanel in five individuals affected by Unverricht-Lundborg disease, three by Lafora disease, two by sialidosis, and one by an undetermined PME. Nine out of 11 individuals improved their disability related to the action myoclonus (two with Lafora disease did not). Among the 104 persons with PMEs collected by the systematic review, we found that more than half of the patients receiving perampanel exhibited an amelioration of action myoclonus and, consequently, of their independence in daily life activities. The Unverricht-Lundborg disease seemed to show the best clinical response to perampanel, in comparison with the other more severe PMEs. A significant seizure reduction was achieved by almost all persons with active epilepsy. Only 11% of PME patients dropped out due to inefficacy. Conclusions: Perampanel demonstrated a beneficial effect with regard to action myoclonus, disability, and seizures and was well-tolerated in people with PMEs, independently from their genetic diagnosis. Given the limited scientific evidence, broader prospective trials should be encouraged. Introduction: Progressive myoclonic epilepsies (PMEs) are a heterogenous group of genetic diseases presenting with epilepsy, cognitive impairment, and severe action myoclonus, which can severely affect daily life activities and independent walking ability. Perampanel is a recent commercially available antiseizure medication with high efficacy against generalized seizures. Some reports supported the role of perampanel in ameliorating action myoclonus in PMEs. Here, we aimed to describe a case series and provide a systematic literature review on perampanel effects on PMEs.Methods: We report the perampanel effectiveness on myoclonus, daily life activities, and seizures on an original Italian multicenter case series of 11 individuals with PMEs. Then, using the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines, we performed a systematic review on perampanel effect on myoclonus and disability in PMEs. We searched PubMed, Scopus, and Google Scholar articles on perampanel and PMEs up to June 2020. No prospective trials were found. We reviewed 11 case series manuscripts reporting 104 cases of different PMEs.Results: Here, we are reporting the effectiveness of perampanel in five individuals affected by Unverricht–Lundborg disease, three by Lafora disease, two by sialidosis, and one by an undetermined PME. Nine out of 11 individuals improved their disability related to the action myoclonus (two with Lafora disease did not). Among the 104 persons with PMEs collected by the systematic review, we found that more than half of the patients receiving perampanel exhibited an amelioration of action myoclonus and, consequently, of their independence in daily life activities. The Unverricht–Lundborg disease seemed to show the best clinical response to perampanel, in comparison with the other more severe PMEs. A significant seizure reduction was achieved by almost all persons with active epilepsy. Only 11% of PME patients dropped out due to inefficacy.Conclusions: Perampanel demonstrated a beneficial effect with regard to action myoclonus, disability, and seizures and was well-tolerated in people with PMEs, independently from their genetic diagnosis. Given the limited scientific evidence, broader prospective trials should be encouraged. Introduction: Progressive myoclonic epilepsies (PMEs) are a heterogenous group of genetic diseases presenting with epilepsy, cognitive impairment, and severe action myoclonus, which can severely affect daily life activities and independent walking ability. Perampanel is a recent commercially available antiseizure medication with high efficacy against generalized seizures. Some reports supported the role of perampanel in ameliorating action myoclonus in PMEs. Here, we aimed to describe a case series and provide a systematic literature review on perampanel effects on PMEs. Methods: We report the perampanel effectiveness on myoclonus, daily life activities, and seizures on an original Italian multicenter case series of 11 individuals with PMEs. Then, using the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines, we performed a systematic review on perampanel effect on myoclonus and disability in PMEs. We searched PubMed, Scopus, and Google Scholar articles on perampanel and PMEs up to June 2020. No prospective trials were found. We reviewed 11 case series manuscripts reporting 104 cases of different PMEs. Results: Here, we are reporting the effectiveness of perampanel in five individuals affected by Unverricht–Lundborg disease, three by Lafora disease, two by sialidosis, and one by an undetermined PME. Nine out of 11 individuals improved their disability related to the action myoclonus (two with Lafora disease did not). Among the 104 persons with PMEs collected by the systematic review, we found that more than half of the patients receiving perampanel exhibited an amelioration of action myoclonus and, consequently, of their independence in daily life activities. The Unverricht–Lundborg disease seemed to show the best clinical response to perampanel, in comparison with the other more severe PMEs. A significant seizure reduction was achieved by almost all persons with active epilepsy. Only 11% of PME patients dropped out due to inefficacy. Conclusions: Perampanel demonstrated a beneficial effect with regard to action myoclonus, disability, and seizures and was well-tolerated in people with PMEs, independently from their genetic diagnosis. Given the limited scientific evidence, broader prospective trials should be encouraged. Progressive myoclonic epilepsies (PMEs) are a heterogenous group of genetic diseases presenting with epilepsy, cognitive impairment, and severe action myoclonus, which can severely affect daily life activities and independent walking ability. Perampanel is a recent commercially available antiseizure medication with high efficacy against generalized seizures. Some reports supported the role of perampanel in ameliorating action myoclonus in PMEs. Here, we aimed to describe a case series and provide a systematic literature review on perampanel effects on PMEs. We report the perampanel effectiveness on myoclonus, daily life activities, and seizures on an original Italian multicenter case series of 11 individuals with PMEs. Then, using the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines, we performed a systematic review on perampanel effect on myoclonus and disability in PMEs. We searched PubMed, Scopus, and Google Scholar articles on perampanel and PMEs up to June 2020. No prospective trials were found. We reviewed 11 case series manuscripts reporting 104 cases of different PMEs. Here, we are reporting the effectiveness of perampanel in five individuals affected by Unverricht-Lundborg disease, three by Lafora disease, two by sialidosis, and one by an undetermined PME. Nine out of 11 individuals improved their disability related to the action myoclonus (two with Lafora disease did not). Among the 104 persons with PMEs collected by the systematic review, we found that more than half of the patients receiving perampanel exhibited an amelioration of action myoclonus and, consequently, of their independence in daily life activities. The Unverricht-Lundborg disease seemed to show the best clinical response to perampanel, in comparison with the other more severe PMEs. A significant seizure reduction was achieved by almost all persons with active epilepsy. Only 11% of PME patients dropped out due to inefficacy. Perampanel demonstrated a beneficial effect with regard to action myoclonus, disability, and seizures and was well-tolerated in people with PMEs, independently from their genetic diagnosis. Given the limited scientific evidence, broader prospective trials should be encouraged. |
| Author | Verrotti, Alberto Coppola, Antonietta Di Gennaro, Giancarlo Marrelli, Alfonso Assenza, Giovanni Ricci, Lorenzo Lanzone, Jacopo Bilo, Leonilda Tombini, Mario Di Lazzaro, Vincenzo Nocerino, Cristofaro D'Aniello, Alfredo |
| AuthorAffiliation | 2 Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples , Naples , Italy 1 Unit of Neurology, Neurophysiology and Neurobiology, Department of Medicine, Università Campus Bio-Medico di Roma , Rome , Italy 5 Clinical Neurophysiology Unit -Epilepsy Center, San Salvatore Hospital , L'Aquila , Italy 3 Epilepsy Surgery Center, IRCCS NEUROMED , Pozzilli , Italy 4 Department of Pediatrics, University of Perugia , Perugia , Italy |
| AuthorAffiliation_xml | – name: 1 Unit of Neurology, Neurophysiology and Neurobiology, Department of Medicine, Università Campus Bio-Medico di Roma , Rome , Italy – name: 5 Clinical Neurophysiology Unit -Epilepsy Center, San Salvatore Hospital , L'Aquila , Italy – name: 4 Department of Pediatrics, University of Perugia , Perugia , Italy – name: 3 Epilepsy Surgery Center, IRCCS NEUROMED , Pozzilli , Italy – name: 2 Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples , Naples , Italy |
| Author_xml | – sequence: 1 givenname: Giovanni surname: Assenza fullname: Assenza, Giovanni – sequence: 2 givenname: Cristofaro surname: Nocerino fullname: Nocerino, Cristofaro – sequence: 3 givenname: Mario surname: Tombini fullname: Tombini, Mario – sequence: 4 givenname: Giancarlo surname: Di Gennaro fullname: Di Gennaro, Giancarlo – sequence: 5 givenname: Alfredo surname: D'Aniello fullname: D'Aniello, Alfredo – sequence: 6 givenname: Alberto surname: Verrotti fullname: Verrotti, Alberto – sequence: 7 givenname: Alfonso surname: Marrelli fullname: Marrelli, Alfonso – sequence: 8 givenname: Lorenzo surname: Ricci fullname: Ricci, Lorenzo – sequence: 9 givenname: Jacopo surname: Lanzone fullname: Lanzone, Jacopo – sequence: 10 givenname: Vincenzo surname: Di Lazzaro fullname: Di Lazzaro, Vincenzo – sequence: 11 givenname: Leonilda surname: Bilo fullname: Bilo, Leonilda – sequence: 12 givenname: Antonietta surname: Coppola fullname: Coppola, Antonietta |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/33841303$$D View this record in MEDLINE/PubMed |
| BookMark | eNqFkstu1DAUhiNUREvpA7BBXrKZwZfEcVggVUOBkQZRUVhbjn0ydeXEwU6mmtfgiXEmbdWyAG98O_93zvHvl9lR5zvIstcELxkT1bumgzEsKaZkyRlmnD_LTgjn-YLSqjh6tD7OzmK8wWmwqmKcvciOEyAnSXSS_b6EoNpedeDQuu2D30FEKx8Gq5VDX_deO9-NEanOoI82qto6O-yR7dBl8NsAMdod3MdZjS5666CPFuJ7dI5WKgK6gpC2B4JCV_s4QKsSHn2HnYVb5Bs0XAPa2CFVMowBXmXPG-UinN3Np9nPTxc_Vl8Wm2-f16vzzUIXjAyLnJe4EAYbQXNqdI1NoxtGFG-qwjSUU2w41FCr1GleGlKBKDjGeUkKACIYO83WM9d4dSP7YFsV9tIrKw8HPmylmt7BgRSYGiaEEpXgecGgFg0U2LBc6xJDbRKLzqyx69X-Vjn3ACRYTn7Jg19y8kvOfiXRh1nUj3ULRkM3BOWeVPL0prPXcut3Uzk5Z0UCvL0DBP9rhDjI1kYNziU7_RglLQgRVYkxTaFvHud6SHL_E1JAOQfo4GMM0Ehth-STn1Jb9882yF_K_7f-Bx3h3TA |
| CitedBy_id | crossref_primary_10_1007_s10072_022_06452_7 crossref_primary_10_1007_s40278_022_10747_8 crossref_primary_10_1177_17562864211037430 crossref_primary_10_3390_genes15020171 crossref_primary_10_3389_fneur_2023_1286276 crossref_primary_10_1016_j_seizure_2022_04_013 crossref_primary_10_1177_2329048X221126361 crossref_primary_10_1016_j_ebr_2022_100544 crossref_primary_10_3390_brainsci13121679 crossref_primary_10_1016_j_parkreldis_2021_12_001 crossref_primary_10_1016_j_seizure_2023_05_017 crossref_primary_10_1097_WCO_0000000000001276 crossref_primary_10_3389_fneur_2023_1182304 crossref_primary_10_18786_2072_0505_2022_50_041 crossref_primary_10_1002_epi4_13100 crossref_primary_10_1002_epi4_13077 crossref_primary_10_1016_j_ejmg_2023_104895 crossref_primary_10_1016_j_eplepsyres_2024_107339 |
| Cites_doi | 10.1016/j.clinph.2020.05.022 10.1016/j.clinph.2019.01.005 10.1016/j.ebcr.2014.09.003 10.5692/clinicalneurol.cn-001179 10.1016/j.ebcr.2017.05.004 10.1002/mds.23673 10.1212/WNL.0000000000001930 10.1016/j.ebcr.2018.02.005 10.1111/j.1528-1167.2012.03718.x 10.1016/j.braindev.2019.05.001 10.1684/epd.2016.0835 10.1016/j.clinph.2020.04.164 10.1016/j.yebeh.2016.06.041 10.1111/j.1528-1157.2000.tb01727.x 10.1016/j.seizure.2019.08.012 10.1111/j.0013-9580.2004.56902.x 10.1016/j.jclinepi.2009.06.006 10.1684/epd.2016.0861 10.1016/j.clinph.2019.10.017 10.3390/brainsci10080506 10.1111/j.1528-1157.1992.tb01704.x 10.1016/j.seizure.2020.06.011 10.1111/epi.13662 10.1016/S0013-4694(98)00058-3 10.1016/j.clinph.2020.12.030 10.1111/epi.13626 10.1016/j.clinph.2019.07.006 10.1016/j.ebcr.2013.07.003 10.1016/j.eplepsyres.2019.106191 |
| ContentType | Journal Article |
| Copyright | Copyright © 2021 Assenza, Nocerino, Tombini, Di Gennaro, D'Aniello, Verrotti, Marrelli, Ricci, Lanzone, Di Lazzaro, Bilo and Coppola. Copyright © 2021 Assenza, Nocerino, Tombini, Di Gennaro, D'Aniello, Verrotti, Marrelli, Ricci, Lanzone, Di Lazzaro, Bilo and Coppola. 2021 Assenza, Nocerino, Tombini, Di Gennaro, D'Aniello, Verrotti, Marrelli, Ricci, Lanzone, Di Lazzaro, Bilo and Coppola |
| Copyright_xml | – notice: Copyright © 2021 Assenza, Nocerino, Tombini, Di Gennaro, D'Aniello, Verrotti, Marrelli, Ricci, Lanzone, Di Lazzaro, Bilo and Coppola. – notice: Copyright © 2021 Assenza, Nocerino, Tombini, Di Gennaro, D'Aniello, Verrotti, Marrelli, Ricci, Lanzone, Di Lazzaro, Bilo and Coppola. 2021 Assenza, Nocerino, Tombini, Di Gennaro, D'Aniello, Verrotti, Marrelli, Ricci, Lanzone, Di Lazzaro, Bilo and Coppola |
| DBID | AAYXX CITATION NPM 7X8 5PM ADTOC UNPAY DOA |
| DOI | 10.3389/fneur.2021.630366 |
| DatabaseName | CrossRef PubMed MEDLINE - Academic PubMed Central (Full Participant titles) Unpaywall for CDI: Periodical Content Unpaywall DOAJ Directory of Open Access Journals |
| DatabaseTitle | CrossRef PubMed MEDLINE - Academic |
| DatabaseTitleList | MEDLINE - Academic CrossRef PubMed |
| Database_xml | – sequence: 1 dbid: DOA name: DOAJ Directory of Open Access Journals url: https://www.doaj.org/ sourceTypes: Open Website – sequence: 2 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 3 dbid: UNPAY name: Unpaywall url: https://proxy.k.utb.cz/login?url=https://unpaywall.org/ sourceTypes: Open Access Repository |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| EISSN | 1664-2295 |
| ExternalDocumentID | oai_doaj_org_article_802d388a8986453eb8fe50d34cc70ebd 10.3389/fneur.2021.630366 PMC8024635 33841303 10_3389_fneur_2021_630366 |
| Genre | Systematic Review |
| GroupedDBID | 53G 5VS 9T4 AAFWJ AAKDD AAYXX ACGFO ACGFS ADBBV ADRAZ AENEX AFPKN ALMA_UNASSIGNED_HOLDINGS AOIJS BAWUL BCNDV CITATION DIK E3Z EMOBN F5P GROUPED_DOAJ GX1 HYE KQ8 M48 M~E O5R O5S OK1 P2P PGMZT RNS RPM ACXDI IAO IEA IHR IHW IPNFZ NPM RIG 7X8 5PM ADTOC UNPAY |
| ID | FETCH-LOGICAL-c531t-467058d0d8242dcb0dfcf31a6f95df2620d6ebeba41347d19e856004715ee1833 |
| IEDL.DBID | M48 |
| ISSN | 1664-2295 |
| IngestDate | Fri Oct 03 12:45:22 EDT 2025 Sun Oct 26 04:15:11 EDT 2025 Tue Sep 30 16:58:32 EDT 2025 Thu Oct 02 11:00:34 EDT 2025 Thu Jan 02 22:57:11 EST 2025 Wed Oct 01 05:03:43 EDT 2025 Thu Apr 24 22:59:11 EDT 2025 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Keywords | perampanel progressive myoclonic epilepsy myoclonus systematic (literature) review disability |
| Language | English |
| License | Copyright © 2021 Assenza, Nocerino, Tombini, Di Gennaro, D'Aniello, Verrotti, Marrelli, Ricci, Lanzone, Di Lazzaro, Bilo and Coppola. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. cc-by |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c531t-467058d0d8242dcb0dfcf31a6f95df2620d6ebeba41347d19e856004715ee1833 |
| Notes | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Undefined-1 ObjectType-Feature-3 content type line 23 Reviewed by: Christian Brandt, Mara Hospital, Germany; Valentina Franco, University of Pavia, Italy Edited by: Alasdair Parker, University of Cambridge, United Kingdom This article was submitted to Epilepsy, a section of the journal Frontiers in Neurology |
| OpenAccessLink | https://proxy.k.utb.cz/login?url=https://www.frontiersin.org/articles/10.3389/fneur.2021.630366/pdf |
| PMID | 33841303 |
| PQID | 2511897002 |
| PQPubID | 23479 |
| ParticipantIDs | doaj_primary_oai_doaj_org_article_802d388a8986453eb8fe50d34cc70ebd unpaywall_primary_10_3389_fneur_2021_630366 pubmedcentral_primary_oai_pubmedcentral_nih_gov_8024635 proquest_miscellaneous_2511897002 pubmed_primary_33841303 crossref_citationtrail_10_3389_fneur_2021_630366 crossref_primary_10_3389_fneur_2021_630366 |
| ProviderPackageCode | CITATION AAYXX |
| PublicationCentury | 2000 |
| PublicationDate | 2021-03-24 |
| PublicationDateYYYYMMDD | 2021-03-24 |
| PublicationDate_xml | – month: 03 year: 2021 text: 2021-03-24 day: 24 |
| PublicationDecade | 2020 |
| PublicationPlace | Switzerland |
| PublicationPlace_xml | – name: Switzerland |
| PublicationTitle | Frontiers in neurology |
| PublicationTitleAlternate | Front Neurol |
| PublicationYear | 2021 |
| Publisher | Frontiers Media S.A |
| Publisher_xml | – name: Frontiers Media S.A |
| References | Assenza (B19) 2017; 58 Wong (B16) 2019; 41 Canafoglia (B18) 2012; 53 Assenza (B27) 2020; 131 Hu (B12) 2018; 10 Oi (B8) 2019; 130 Salas-Puig (B26) 1992; 33 Brandt (B17) 2020; 80 Magaudda (B5) 2004; 45 Shibasaki (B23) 2011; 26 Goldsmith (B10) 2016; 62 Avanzini (B21) 2016; 18 Shiraishi (B15) 2017; 8 Insola (B28) 2019; 130 Lanzone (B24) 2020; 131 Michelucci (B2) 2016; 18 Lanzone (B29) 2021; 132 French (B4) 2015; 85 Tassinari (B22) 1998; 107 Canafoglia (B7) 2019; 156 Dirani (B11) 2014; 2 Schorlemmer (B14) 2013; 1 Boggs (B20) 2000; 41 Assenza (B25) 2020; 131 Coppola (B1) 2020; 10 Crespel (B9) 2017; 58 Oi (B13) 2018; 58 Orsini (B3) 2019; 71 Liberati (B6) 2009; 62 |
| References_xml | – volume: 131 start-page: 1917 year: 2020 ident: B24 article-title: The effects of antiepileptic drugs on high-frequency oscillations in somatosensory evoked potentials publication-title: Clin Neurophysiol doi: 10.1016/j.clinph.2020.05.022 – volume: 130 start-page: 439 year: 2019 ident: B28 article-title: Cortical inhibitory dysfunction in epilepsia partialis continua: a high frequency oscillation somatosensory evoked potential study publication-title: Clin Neurophysiol doi: 10.1016/j.clinph.2019.01.005 – volume: 2 start-page: 164 year: 2014 ident: B11 article-title: Seizure control and improvement of neurological dysfunction in Lafora disease with perampanel publication-title: Epilepsy Behav Case Rep doi: 10.1016/j.ebcr.2014.09.003 – volume: 58 start-page: 622 year: 2018 ident: B13 article-title: Low-dose perampanel improved cortical myoclonus and basophobia in a patient with Unverricht-Lundborg disease: a case report publication-title: Rinsho Shinkeigaku. doi: 10.5692/clinicalneurol.cn-001179 – volume: 8 start-page: 44 year: 2017 ident: B15 article-title: Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral–pallidoluysian atrophy (DRPLA) publication-title: Epilepsy Behav Case Rep doi: 10.1016/j.ebcr.2017.05.004 – volume: 26 start-page: 1142 year: 2011 ident: B23 article-title: Milestones in myoclonus publication-title: Mov Disord doi: 10.1002/mds.23673 – volume: 85 start-page: 950 year: 2015 ident: B4 article-title: Perampanel for tonic-clonic seizures in idiopathic generalized epilepsy publication-title: Neurology doi: 10.1212/WNL.0000000000001930 – volume: 10 start-page: 32 year: 2018 ident: B12 article-title: Seizure remission and improvement of neurological function in sialidosis with perampanel therapy publication-title: Epilepsy Behav Case Rep doi: 10.1016/j.ebcr.2018.02.005 – volume: 53 start-page: 2120 year: 2012 ident: B18 article-title: Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations publication-title: Epilepsia doi: 10.1111/j.1528-1167.2012.03718.x – volume: 41 start-page: 817 year: 2019 ident: B16 article-title: Perampanel attenuates myoclonus in a patient with neuronal ceroid lipofuscinoses type 2 disease publication-title: Brain Dev doi: 10.1016/j.braindev.2019.05.001 – volume: 18 start-page: S11 year: 2016 ident: B21 article-title: Neurophysiology of myoclonus and progressive myoclonus epilepsies publication-title: Epileptic Disord doi: 10.1684/epd.2016.0835 – volume: 131 start-page: 2041 year: 2020 ident: B27 article-title: Thalamic and cortical hyperexcitability in juvenile myoclonic epilepsy publication-title: Clin Neurophysiol doi: 10.1016/j.clinph.2020.04.164 – volume: 62 start-page: 132 year: 2016 ident: B10 article-title: Efficacy and tolerability of perampanel in ten patients with Lafora disease publication-title: Epilepsy Behav doi: 10.1016/j.yebeh.2016.06.041 – volume: 41 start-page: 255 year: 2000 ident: B20 article-title: Analysis of the “honeymoon effect” in adult epilepsy patients publication-title: Epilepsia doi: 10.1111/j.1528-1157.2000.tb01727.x – volume: 71 start-page: 247 year: 2019 ident: B3 article-title: The best evidence for progressive myoclonic epilepsy: a pathway to precision therapy publication-title: Seizure doi: 10.1016/j.seizure.2019.08.012 – volume: 45 start-page: 678 year: 2004 ident: B5 article-title: Antimyoclonic effect of levetiracetam in 13 patients with Unverricht-Lundborg disease: clinical observations publication-title: Epilepsia. doi: 10.1111/j.0013-9580.2004.56902.x – volume: 62 start-page: e1 year: 2009 ident: B6 article-title: The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: explanation and elaboration publication-title: J Clin Epidemiol doi: 10.1016/j.jclinepi.2009.06.006 – volume: 18 start-page: S145 year: 2016 ident: B2 article-title: Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials publication-title: Epileptic Disord doi: 10.1684/epd.2016.0861 – volume: 131 start-page: 548 year: 2020 ident: B25 article-title: Thalamo-cortical network dysfunction in temporal lobe epilepsy publication-title: Clin Neurophysiol doi: 10.1016/j.clinph.2019.10.017 – volume: 10 start-page: 1 year: 2020 ident: B1 article-title: Diagnosis and management of type 1 sialidosis: Clinical insights from long-term care of four unrelated patients publication-title: Brain Sci doi: 10.3390/brainsci10080506 – volume: 33 start-page: 527 year: 1992 ident: B26 article-title: Somatosensory evoked potentials in juvenile myoclonic epilepsy publication-title: Epilepsia doi: 10.1111/j.1528-1157.1992.tb01704.x – volume: 80 start-page: 115 year: 2020 ident: B17 article-title: Adjunctive perampanel and myoclonic and absence seizures: post hoc analysis of data from study 332 in patients with idiopathic generalized epilepsy publication-title: Seizure doi: 10.1016/j.seizure.2020.06.011 – volume: 58 start-page: 543 year: 2017 ident: B9 article-title: Perampanel in 12 patients with Unverricht-Lundborg disease publication-title: Epilepsia doi: 10.1111/epi.13662 – volume: 107 start-page: 181 year: 1998 ident: B22 article-title: Neurophysiology of positive and negative myoclonus publication-title: Electroencephalogr Clin Neurophysiol doi: 10.1016/S0013-4694(98)00058-3 – volume: 132 start-page: 1049 year: 2021 ident: B29 article-title: Effects of the noncompetitive AMPA receptor antagonist perampanel on thalamo-cortical excitability: A study of high-frequency oscillations in somatosensory evoked potentials publication-title: Clin Neurophysiol doi: 10.1016/j.clinph.2020.12.030 – volume: 58 start-page: e31 year: 2017 ident: B19 article-title: A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients publication-title: Epilepsia doi: 10.1111/epi.13626 – volume: 130 start-page: 1804 year: 2019 ident: B8 article-title: Low-dose perampanel improves refractory cortical myoclonus by the dispersed and suppressed paroxysmal depolarization shifts in the sensorimotor cortex publication-title: Clin Neurophysiol doi: 10.1016/j.clinph.2019.07.006 – volume: 1 start-page: 118 year: 2013 ident: B14 article-title: Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease) publication-title: Epilepsy Behav Case Rep doi: 10.1016/j.ebcr.2013.07.003 – volume: 156 start-page: 106191 year: 2019 ident: B7 article-title: An Italian multicentre study of perampanel in progressive myoclonus epilepsies publication-title: Epilepsy Res doi: 10.1016/j.eplepsyres.2019.106191 |
| SSID | ssj0000399363 |
| Score | 2.3416533 |
| SecondaryResourceType | review_article |
| Snippet | Introduction:
Progressive myoclonic epilepsies (PMEs) are a heterogenous group of genetic diseases presenting with epilepsy, cognitive impairment, and severe... Progressive myoclonic epilepsies (PMEs) are a heterogenous group of genetic diseases presenting with epilepsy, cognitive impairment, and severe action... Introduction: Progressive myoclonic epilepsies (PMEs) are a heterogenous group of genetic diseases presenting with epilepsy, cognitive impairment, and severe... |
| SourceID | doaj unpaywall pubmedcentral proquest pubmed crossref |
| SourceType | Open Website Open Access Repository Aggregation Database Index Database Enrichment Source |
| StartPage | 630366 |
| SubjectTerms | disability myoclonus Neurology perampanel progressive myoclonic epilepsy systematic (literature) review |
| SummonAdditionalLinks | – databaseName: DOAJ Directory of Open Access Journals dbid: DOA link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV3Li9QwGA-yB_Uivq0vInhS6nbapE29reMuiziyoAt7C3niQEmHeSjzb_gX-31Jp8yguBevbZom_d6P_kLIa-uMNxrk23PdYuqG58KINre-0mVjlNUxlT37Up9fsk9X_GrvqC_sCUvwwOnDHYuitJUQSiCOOK-cFt7xwlbMmKZw2qL2LUS7F0xFHYx2t65SGROisPbYIz4kxIPl5F2Nars-MEQRr_9vTuafvZK3NmGhtj9V1-0ZorO75M7gQdKTtPJ75IYL98nN2VAjf0B-XbgloigG19GUMnArOu2XMWlNZ9vedH3YrKgKln4cEHbXWzoP9AJ7tbAt9ofbjZsberoAxbFYQUT9np7QKVg9iik1l2ZQ9OuIBU1ToYH2noJbST-PiM0PyeXZ6bfpeT6cvJAbkMl1Dtqz4MIWVoAFt0YX1htfTVTtW249YtjbGqivFcM_Ue2kdQI9JzB03DlQEtUjchT64J4Q6jxXioElboxgTDfK27LhqnTKG-6ZzUixI4M0Ayw5no7RSQhPkHIyUk4i5WSiXEbejI8sEibHvwZ_QNqOAxFOO14AJpMDk8nrmCwjr3acIUH8sKYCVOw3KxkjtLYBu5KRx4lTxlfBgqKLkJHmgIcO1nJ4J8y_R4hvWBADVzAjb0duu36rT__HVp-R2zglttmV7Dk5Wi837gX4XWv9MorYb05qL8A priority: 102 providerName: Directory of Open Access Journals – databaseName: Unpaywall dbid: UNPAY link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1Lj9MwELagKwEX3gvhJSNxAqWbJnHicCtlVytEV5Wg0nKK_BQVURK1Caj8DH4xM3EabWEFQhyb2okf45lvxuPPhLzQRlklYX1bJjMM3TCfK5752kYyTJXQsgtlz8-S02X87pydXzgLg2mVFo_u40XQq9IxBfcpYrjCwaPKjixyPYJvF07GCarg5KjW9io5SBjg8RE5WJ4tpp_Q00qS2Mf7qt125uV19wxSx9t_Gdj8PWfyelvWYvtNFMUFg3Ryi6hdV1weypdx28ix-v4Ly-P_9fU2udnjVTp1Fe6QK6a8S67N-x35e-THwqyRs7E0BXUBCrOhs2rdhcjpfFupoirbDRWlpm97Pt9mS1clXWBmGCbhfjW7citFj2tQU_UG_PfXdEpnYGMpBvCMe4OgHwbmaeq2NWhlKYBY-n7gh75PlifHH2enfn_Pg69AAzQ-6OqAcR1oDnhBKxloq2w0EYnNmLbImK8TkDUpYjz3qieZ4YjTwKwyY0AlRYdkVFaleUiosUyIGOx-qngcy1RYHaZMhEZYxWysPRLsJjtXPQk63sVR5OAM4Xjn3XjnON65G2-PvByq1I4B5E-F36AEDQWRvLt7AHOb93Ob8yDUEeeCIzU-i4zk1rBAR7FSaWAkNPL5Tv5yWOy4gwOzWLWbvPMHsxSsmEceOHkcPgUN6gCJR9I9Sd1ry_4_5epzRygODYoBeHrk1SDTf-_qo38q_ZjcwF-YvRfGT8ioWbfmKcC5Rj7r1-tPrgxNyA priority: 102 providerName: Unpaywall |
| Title | Perampanel Improves Cortical Myoclonus and Disability in Progressive Myoclonic Epilepsies: A Case Series and a Systematic Review of the Literature |
| URI | https://www.ncbi.nlm.nih.gov/pubmed/33841303 https://www.proquest.com/docview/2511897002 https://pubmed.ncbi.nlm.nih.gov/PMC8024635 https://www.frontiersin.org/articles/10.3389/fneur.2021.630366/pdf https://doaj.org/article/802d388a8986453eb8fe50d34cc70ebd |
| UnpaywallVersion | publishedVersion |
| Volume | 12 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| journalDatabaseRights | – providerCode: PRVAFT databaseName: Open Access Digital Library customDbUrl: eissn: 1664-2295 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0000399363 issn: 1664-2295 databaseCode: KQ8 dateStart: 20100101 isFulltext: true titleUrlDefault: http://grweb.coalliance.org/oadl/oadl.html providerName: Colorado Alliance of Research Libraries – providerCode: PRVAON databaseName: DOAJ Directory of Open Access Journals customDbUrl: eissn: 1664-2295 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0000399363 issn: 1664-2295 databaseCode: DOA dateStart: 20100101 isFulltext: true titleUrlDefault: https://www.doaj.org/ providerName: Directory of Open Access Journals – providerCode: PRVBFR databaseName: Free Medical Journals customDbUrl: eissn: 1664-2295 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0000399363 issn: 1664-2295 databaseCode: DIK dateStart: 20100101 isFulltext: true titleUrlDefault: http://www.freemedicaljournals.com providerName: Flying Publisher – providerCode: PRVFQY databaseName: GFMER Free Medical Journals customDbUrl: eissn: 1664-2295 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0000399363 issn: 1664-2295 databaseCode: GX1 dateStart: 0 isFulltext: true titleUrlDefault: http://www.gfmer.ch/Medical_journals/Free_medical.php providerName: Geneva Foundation for Medical Education and Research – providerCode: PRVHPJ databaseName: ROAD: Directory of Open Access Scholarly Resources customDbUrl: eissn: 1664-2295 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0000399363 issn: 1664-2295 databaseCode: M~E dateStart: 20100101 isFulltext: true titleUrlDefault: https://road.issn.org providerName: ISSN International Centre – providerCode: PRVAQN databaseName: PubMed Central customDbUrl: eissn: 1664-2295 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0000399363 issn: 1664-2295 databaseCode: RPM dateStart: 20100101 isFulltext: true titleUrlDefault: https://www.ncbi.nlm.nih.gov/pmc/ providerName: National Library of Medicine – providerCode: PRVFZP databaseName: Scholars Portal Journals: Open Access customDbUrl: eissn: 1664-2295 dateEnd: 20250131 omitProxy: true ssIdentifier: ssj0000399363 issn: 1664-2295 databaseCode: M48 dateStart: 20101101 isFulltext: true titleUrlDefault: http://journals.scholarsportal.info providerName: Scholars Portal |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwhV1bj5NAFJ6su8m6LxuvK6s2Y-KThpUCA4OJMbXuZmPspok2WZ_IXLUJgQqt2r_hL_acgRIbq77CAAPn8p1zZvgOIU-1UVZJsG_LZIalG-ZzxTNf20iGqRJaulL25Cq5nMXvrtn1Htm0t-o-YLMztcN-UrO6OPvxdf0aDP4VZpyAty8sUj9CqhcOzxL0yMkNcgBAlWEnh0kX7TvHjGDseqsNkyT2sZF1u865-y5H5BBOOCe_BVqO239XQPrnvsqbq3Ih1t9FUfwGWhe3yHEXbdJRqx63yZ4p75DDSbeefpf8nJoaGRdLU9C2vGAaOq5qV-Cmk3WliqpcNVSUmr7t2HiXazov6RT3deEW2m9mM26u6PkCnMyigez7JR3RMSAkxfKbae8g6IeeN5q2ixK0shRCUPq-Z3e-R2YX5x_Hl37XpcFXYL9LHzxtwLgONAe010oG2iobDUViM6Yt8t3rBDRFihj_WtXDzHCMsgAUmTHgUKL7ZL-sSvOAUGOZEDGgdqp4HMtUWB2mTIRGWMVsrD0SbMSQq47CHDtpFDmkMijE3AkxRyHmrRA98qy_ZNHyd_xr8BuUbT8Qqbfdgar-nHeWnPMg1BHngiOxPYuM5NawQEexUmlgJEzyyUYzcjBVXH8BKVarJnfZXJYCBnnkpNWU_lEbTfNIuqVDW3PZPlPOvzg6cJhQDGGjR5732vb_Vz396wwekiMch_vswvgR2V_WK_MYAq-lHLiCxcAZ1YAczK6mo0-_ADzyLzI |
| linkProvider | Scholars Portal |
| linkToUnpaywall | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1Lj9MwELagKwEX3gvhJSNxAqWbJnHicCtlVytEV5Wg0nKK_BQVURK1Caj8DH4xM3EabWEFQhyb2okf45lvxuPPhLzQRlklYX1bJjMM3TCfK5752kYyTJXQsgtlz8-S02X87pydXzgLg2mVFo_u40XQq9IxBfcpYrjCwaPKjixyPYJvF07GCarg5KjW9io5SBjg8RE5WJ4tpp_Q00qS2Mf7qt125uV19wxSx9t_Gdj8PWfyelvWYvtNFMUFg3Ryi6hdV1weypdx28ix-v4Ly-P_9fU2udnjVTp1Fe6QK6a8S67N-x35e-THwqyRs7E0BXUBCrOhs2rdhcjpfFupoirbDRWlpm97Pt9mS1clXWBmGCbhfjW7citFj2tQU_UG_PfXdEpnYGMpBvCMe4OgHwbmaeq2NWhlKYBY-n7gh75PlifHH2enfn_Pg69AAzQ-6OqAcR1oDnhBKxloq2w0EYnNmLbImK8TkDUpYjz3qieZ4YjTwKwyY0AlRYdkVFaleUiosUyIGOx-qngcy1RYHaZMhEZYxWysPRLsJjtXPQk63sVR5OAM4Xjn3XjnON65G2-PvByq1I4B5E-F36AEDQWRvLt7AHOb93Ob8yDUEeeCIzU-i4zk1rBAR7FSaWAkNPL5Tv5yWOy4gwOzWLWbvPMHsxSsmEceOHkcPgUN6gCJR9I9Sd1ry_4_5epzRygODYoBeHrk1SDTf-_qo38q_ZjcwF-YvRfGT8ioWbfmKcC5Rj7r1-tPrgxNyA |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Perampanel+Improves+Cortical+Myoclonus+and+Disability+in+Progressive+Myoclonic+Epilepsies%3A+A+Case+Series+and+a+Systematic+Review+of+the+Literature&rft.jtitle=Frontiers+in+neurology&rft.au=Assenza%2C+Giovanni&rft.au=Nocerino%2C+Cristofaro&rft.au=Tombini%2C+Mario&rft.au=Di+Gennaro%2C+Giancarlo&rft.date=2021-03-24&rft.issn=1664-2295&rft.eissn=1664-2295&rft.volume=12&rft.spage=630366&rft_id=info:doi/10.3389%2Ffneur.2021.630366&rft_id=info%3Apmid%2F33841303&rft.externalDocID=33841303 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1664-2295&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1664-2295&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1664-2295&client=summon |