Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report

Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Case Report Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report Thiago Gonçalves Guimarães, Paulo Ribeiro Nóbrega, Fernando Freua, and 4 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-3809158/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 4 You are reading this latest preprint version Abstract Background: Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics. Case Report: We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures. Discussion: Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7. Myoclonus Epilepsy KCN1 Movement disorders Case report Figures Figure 1 Background The Progressive Myoclonus Epilepsies (PMEs) are a group of rare and severe conditions characterized by action myoclonus, refractory epilepsy, ataxia and dementia. Most diseases in this group have an autosomal recessive pattern of inheritance 1 , 2 . PMEs usually present in late childhood or adolescence. Patients commonly become wheelchair-bound and have a reduced life expectancy. The PME type 7, also known as myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), is associated with KCN1 variants and stands out for not having severe cognitive impairment and due to relatively easily treatable epilepsy, as well as autosomal dominant inheritance associated with de novo variants 1 , 2 . Case Report A 29-year-old woman presented at the age of 10 with upper limb abnormal jerky movements, elicited by action and worsening in the morning. Two months later, she started focal epileptic seizures with left limb tonic postures, sometimes with generalization. Seizures were controlled with valproic acid. Gait and balance became progressively impaired thereafter. Interestingly, involuntary movements worsened during the menstrual period and improved after seizures (Video). She became wheelchair-bound at the age of 21. Her medical history was remarkable for insulin-dependent diabetes mellitus. Family history was unremarkable. Neurological examination revealed severe generalized action myoclonus, global ataxia, and dysarthria (Video). Brain MRI showed mild cerebellar atrophy (Fig. 1 ). Electroencephalogram disclosed generalized spike and spike-wave paroxysms. Whole exome sequencing identified a previously described monoallelic pathogenic variant (p.Arg320His ENST00000265969) in KCNC1 gene 3 , 4 , confirming the diagnosis of progressive myoclonic epilepsy type 7 (OMIM#616187). Discussion The potassium channel subfamily Kv3 consists of four subunits which are encoded by KCN1, KCN2, KCN3 , and KCN4 . Pathogenic variants in KCN3 are associated with spinocerebellar ataxia type 13, whereas KCN2 and KCN4 have not been associated with human disease up to this moment 5 . Regarding KCN1 , a study conducted in 2016 found that 16 out of 84 clinically confirmed Progressive Myoclonic Epilepsy (PME) cases without clear genetic etiology had a monoallelic missense variant in the KCN1 gene, c.959G > A (p.Arg320His), 13 of whom were unrelated 6 . The authors suggested the name MEAK (Myoclonus Epilepsy and Ataxia due to potassium channel mutation) for the condition, corresponding to the PME type 7. The phenotype described in PME type 7 consists of normal early development with myoclonus as the first symptom (onset at 6 to 14 years), which becomes progressively worse affecting the gait and resulting in patients being wheelchair-bound by adolescence or early adulthood in most cases. Tonic-clonic seizures may be present but are not frequent. Mild cognitive decline occurs in some cases after seizure onset. Magnetic resonance may be normal or show cerebellar atrophy 6 , 7 . Exacerbation during menses was reported 4 . Compared to other types of PME, the type 7 has a somewhat similar presentation to Unverricht-Lundborg disease (PME type 1), but with more severe disease progression 2 , 7 . To the best of our knowledge, there are no reports describing improvement of myoclonus after seizures in this condition. This case illustrates a novel interesting clinical phenomenon: myoclonus improvement after seizures in a rare form of progressive myoclonic epilepsy. Declarations Ethics approval and consent to participate Patient provided verbal and written informed consent for this publication but because this article is a case report no Institutional Review Board (IRB) approval was necessary. Consent for publication Patient provided verbal and written informed consent for this publication. Availability of data and materials All data available is contained in the manuscript and additional information. Competing interests The authors declare no competing interests Funding No external funding was provided for this research Author’s contributions TGG, PRN and FF were responsible for the conceptualization of this report. All authors were engaged in data collection, literature review and early manuscript draft. PBN, ARBP and FK were responsible for manuscript revision. The final version of the article was written by TGG, PRN and PLGSBL. References Malek N, Stewart W, Greene J. The progressive myoclonic epilepsies. Pract Neurol. 2015;15(3):164–71. Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, et al. The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy. Seizure. 2019 Oct 1;71:247–57. Barot N, Margiotta M, Nei M, Skidmore C. Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature. Epileptic Disord. 2020 Oct 1;22(5):654–8. Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, et al. Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. Ann Neurol. 2017 May 1;81(5):677–89. Park J, Koko M, Hedrich UBS, Hermann A, Cremer K, Haberlandt E, et al. KCNC1-related disorders: new de novo variants expand the phenotypic spectrum. Ann Clin Transl Neurol. 2019 Jul 1;6(7):1319–26. Nascimento FA, Andrade DM. Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations. Epileptic Disord. 2016;18(S2):S135–8. Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, et al. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet. 2015 Jan 1;47(1):39–46. Additional Declarations No competing interests reported. Supplementary Files Video1.mp4 Video legends Video 1. Myoclonus at baseline and improvement after a seizure. Cite Share Download PDF Status: Under Review Version 1 posted Editorial decision: Revision requested 27 Dec, 2023 Submission checks completed at journal 26 Dec, 2023 Editor assigned by journal 26 Dec, 2023 First submitted to journal 26 Dec, 2023 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-3809158","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":263776460,"identity":"144684a4-b4b6-450b-b0cb-bdefcdcb997d","order_by":0,"name":"Thiago Gonçalves Guimarães","email":"data:image/png;base64,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","orcid":"","institution":"University of Sao Paulo","correspondingAuthor":true,"prefix":"","firstName":"Thiago","middleName":"Gonçalves","lastName":"Guimarães","suffix":""},{"id":263776461,"identity":"2c959c3f-24c9-4f25-8026-dd7b75be4db8","order_by":1,"name":"Paulo Ribeiro Nóbrega","email":"","orcid":"","institution":"Federal University of Ceara","correspondingAuthor":false,"prefix":"","firstName":"Paulo","middleName":"Ribeiro","lastName":"Nóbrega","suffix":""},{"id":263776464,"identity":"84fa4b9d-e0eb-46e1-8113-f0a22e6ac9fa","order_by":2,"name":"Fernando Freua","email":"","orcid":"","institution":"University of Sao Paulo","correspondingAuthor":false,"prefix":"","firstName":"Fernando","middleName":"","lastName":"Freua","suffix":""},{"id":263776465,"identity":"59a2a0f7-f90d-4bdf-b7b7-98b89e32f24c","order_by":3,"name":"Pedro Lucas Grangeiro de Sá Barreto Lima","email":"","orcid":"","institution":"Federal University of Ceara","correspondingAuthor":false,"prefix":"","firstName":"Pedro","middleName":"Lucas Grangeiro de Sá Barreto","lastName":"Lima","suffix":""},{"id":263776467,"identity":"3aceb2db-0a5f-435d-b530-603157be4b22","order_by":4,"name":"Pedro Braga-Neto","email":"","orcid":"","institution":"Federal University of Ceara","correspondingAuthor":false,"prefix":"","firstName":"Pedro","middleName":"","lastName":"Braga-Neto","suffix":""},{"id":263776468,"identity":"64509ea8-9ee6-42c9-934d-1cc415257573","order_by":5,"name":"Anderson Rodrigues Brandão Paiva","email":"","orcid":"","institution":"University of Sao Paulo","correspondingAuthor":false,"prefix":"","firstName":"Anderson","middleName":"Rodrigues Brandão","lastName":"Paiva","suffix":""},{"id":263776469,"identity":"6259592a-85a9-483e-92f3-e53d141fd42d","order_by":6,"name":"Fernando Kok","email":"","orcid":"","institution":"Federal University of Ceara","correspondingAuthor":false,"prefix":"","firstName":"Fernando","middleName":"","lastName":"Kok","suffix":""}],"badges":[],"createdAt":"2023-12-26 18:14:15","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-3809158/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-3809158/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":49078599,"identity":"e4cdc9e6-92c2-4d27-aa26-92df3abd36ff","added_by":"auto","created_at":"2024-01-02 19:18:16","extension":"jpg","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":167601,"visible":true,"origin":"","legend":"\u003cp\u003eFamily pedigree (A): the patient´s parents were unaffected first-degree cousins. Brain MRI (B) showed mild cerebellar atrophy.\u003c/p\u003e","description":"","filename":"Figure1.jpg","url":"https://assets-eu.researchsquare.com/files/rs-3809158/v1/08d121848e329cc3cede27b7.jpg"},{"id":49078753,"identity":"b3bc8e94-d678-4c55-af55-fa56aa63d554","added_by":"auto","created_at":"2024-01-02 19:26:15","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":286674,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-3809158/v1/54dbdf07-23d6-480d-84b2-e00bdf67532c.pdf"},{"id":49078600,"identity":"60fab96f-1e1d-4948-bf58-0566ed4a3438","added_by":"auto","created_at":"2024-01-02 19:18:21","extension":"mp4","order_by":1,"title":"","display":"","copyAsset":false,"role":"supplement","size":106716989,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eVideo legends\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eVideo 1\u003c/strong\u003e. Myoclonus at baseline and improvement after a seizure.\u003c/p\u003e","description":"","filename":"Video1.mp4","url":"https://assets-eu.researchsquare.com/files/rs-3809158/v1/8710599502fa9dc611b432f9.mp4"}],"financialInterests":"No competing interests reported.","formattedTitle":"Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report","fulltext":[{"header":"Background","content":"\u003cp\u003eThe Progressive Myoclonus Epilepsies (PMEs) are a group of rare and severe conditions characterized by action myoclonus, refractory epilepsy, ataxia and dementia. Most diseases in this group have an autosomal recessive pattern of inheritance\u003csup\u003e\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e,\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e\u003c/sup\u003e. PMEs usually present in late childhood or adolescence. Patients commonly become wheelchair-bound and have a reduced life expectancy. The PME type 7, also known as myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), is associated with \u003cem\u003eKCN1\u003c/em\u003e variants and stands out for not having severe cognitive impairment and due to relatively easily treatable epilepsy, as well as autosomal dominant inheritance associated with \u003cem\u003ede novo\u003c/em\u003e variants\u003csup\u003e\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e,\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e\u003c/sup\u003e.\u003c/p\u003e"},{"header":"Case Report","content":"\u003cp\u003eA 29-year-old woman presented at the age of 10 with upper limb abnormal jerky movements, elicited by action and worsening in the morning. Two months later, she started focal epileptic seizures with left limb tonic postures, sometimes with generalization. Seizures were controlled with valproic acid. Gait and balance became progressively impaired thereafter. Interestingly, involuntary movements worsened during the menstrual period and improved after seizures (Video). She became wheelchair-bound at the age of 21. Her medical history was remarkable for insulin-dependent diabetes mellitus. Family history was unremarkable. Neurological examination revealed severe generalized action myoclonus, global ataxia, and dysarthria (Video). Brain MRI showed mild cerebellar atrophy (Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e). Electroencephalogram disclosed generalized spike and spike-wave paroxysms. Whole exome sequencing identified a previously described monoallelic pathogenic variant (p.Arg320His ENST00000265969) in \u003cem\u003eKCNC1\u003c/em\u003e gene\u003csup\u003e\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e,\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e\u003c/sup\u003e, confirming the diagnosis of progressive myoclonic epilepsy type 7 (OMIM#616187).\u003c/p\u003e \u003cp\u003e \u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eThe potassium channel subfamily Kv3 consists of four subunits which are encoded by \u003cem\u003eKCN1, KCN2, KCN3\u003c/em\u003e, and \u003cem\u003eKCN4\u003c/em\u003e. Pathogenic variants in \u003cem\u003eKCN3\u003c/em\u003e are associated with spinocerebellar ataxia type 13, whereas \u003cem\u003eKCN2\u003c/em\u003e and \u003cem\u003eKCN4\u003c/em\u003e have not been associated with human disease up to this moment\u003csup\u003e\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e\u003c/sup\u003e. Regarding \u003cem\u003eKCN1\u003c/em\u003e, a study conducted in 2016 found that 16 out of 84 clinically confirmed Progressive Myoclonic Epilepsy (PME) cases without clear genetic etiology had a monoallelic missense variant in the \u003cem\u003eKCN1\u003c/em\u003e gene, c.959G\u0026thinsp;\u0026gt;\u0026thinsp;A (p.Arg320His), 13 of whom were unrelated\u003csup\u003e\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e\u003c/sup\u003e. The authors suggested the name MEAK (Myoclonus Epilepsy and Ataxia due to potassium channel mutation) for the condition, corresponding to the PME type 7.\u003c/p\u003e \u003cp\u003eThe phenotype described in PME type 7 consists of normal early development with myoclonus as the first symptom (onset at 6 to 14 years), which becomes progressively worse affecting the gait and resulting in patients being wheelchair-bound by adolescence or early adulthood in most cases. Tonic-clonic seizures may be present but are not frequent. Mild cognitive decline occurs in some cases after seizure onset. Magnetic resonance may be normal or show cerebellar atrophy\u003csup\u003e\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e,\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e\u003c/sup\u003e. Exacerbation during menses was reported\u003csup\u003e\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e\u003c/sup\u003e. Compared to other types of PME, the type 7 has a somewhat similar presentation to Unverricht-Lundborg disease (PME type 1), but with more severe disease progression\u003csup\u003e\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e,\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e\u003c/sup\u003e. To the best of our knowledge, there are no reports describing improvement of myoclonus after seizures in this condition.\u003c/p\u003e \u003cp\u003eThis case illustrates a novel interesting clinical phenomenon: myoclonus improvement after seizures in a rare form of progressive myoclonic epilepsy.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eEthics approval and consent to participate\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003ePatient provided verbal and written informed consent for this publication but because this article is a case report no Institutional Review Board (IRB) approval was necessary.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent for publication\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003ePatient provided verbal and written informed consent for this publication.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAvailability of data and materials\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAll data available is contained in the manuscript and additional information.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting interests\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare no competing interests\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNo external funding was provided for this research\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthor\u0026rsquo;s contributions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eTGG, PRN and FF were responsible for the conceptualization of this report. All authors were engaged in data collection, literature review and early manuscript draft. PBN, ARBP and FK were responsible for manuscript revision. The final version of the article was written by TGG, PRN and PLGSBL.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n\u003cli\u003eMalek N, Stewart W, Greene J. The progressive myoclonic epilepsies. Pract Neurol. 2015;15(3):164\u0026ndash;71. \u003c/li\u003e\n\u003cli\u003eOrsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, et al. The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy. Seizure. 2019 Oct 1;71:247\u0026ndash;57. \u003c/li\u003e\n\u003cli\u003eBarot N, Margiotta M, Nei M, Skidmore C. Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature. Epileptic Disord. 2020 Oct 1;22(5):654\u0026ndash;8.\u003c/li\u003e\n\u003cli\u003eOliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, et al. Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. Ann Neurol. 2017 May 1;81(5):677\u0026ndash;89.\u003c/li\u003e\n\u003cli\u003ePark J, Koko M, Hedrich UBS, Hermann A, Cremer K, Haberlandt E, et al. KCNC1-related disorders: new de novo variants expand the phenotypic spectrum. Ann Clin Transl Neurol. 2019 Jul 1;6(7):1319\u0026ndash;26. \u003c/li\u003e\n\u003cli\u003eNascimento FA, Andrade DM. Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations. Epileptic Disord. 2016;18(S2):S135\u0026ndash;8. \u003c/li\u003e\n\u003cli\u003eMuona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, et al. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet. 2015 Jan 1;47(1):39\u0026ndash;46. \u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"bmc-neurology","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"nurl","sideBox":"Learn more about [BMC Neurology](http://bmcneurol.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/nurl","title":"BMC Neurology","twitterHandle":"BMC_series","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"em","reportingPortfolio":"BMC Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"Myoclonus, Epilepsy, KCN1, Movement disorders, Case report","lastPublishedDoi":"10.21203/rs.3.rs-3809158/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-3809158/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cstrong\u003eBackground: \u003c/strong\u003eProgressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCase Report: \u003c/strong\u003eWe report a case of PME type 7 due to a pathogenic variant in \u003cem\u003eKCNC1\u003c/em\u003e with myoclonus improvement after epileptic seizures.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eDiscussion: \u003c/strong\u003eMyoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.\u003c/p\u003e","manuscriptTitle":"Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2024-01-02 19:18:11","doi":"10.21203/rs.3.rs-3809158/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2023-12-27T17:56:36+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2023-12-26T19:29:30+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2023-12-26T19:29:30+00:00","index":"","fulltext":""},{"type":"submitted","content":"BMC Neurology","date":"2023-12-26T18:11:49+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"bmc-neurology","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"nurl","sideBox":"Learn more about [BMC Neurology](http://bmcneurol.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/nurl","title":"BMC Neurology","twitterHandle":"BMC_series","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"em","reportingPortfolio":"BMC Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"4f82acc6-adcb-4a3d-8a1b-9abf0ad390ad","owner":[],"postedDate":"January 2nd, 2024","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"under-review","subjectAreas":[],"tags":[],"updatedAt":"2024-04-05T09:14:44+00:00","versionOfRecord":[],"versionCreatedAt":"2024-01-02 19:18:11","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-3809158","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-3809158","identity":"rs-3809158","version":["v1"]},"buildId":"qtupq5eGEP_6zYnWcrvyt","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}