{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T11:26:59Z","timestamp":1788348419383,"version":"build-2803163510"},"reference-count":39,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,7,2]],"date-time":"2024-07-02T00:00:00Z","timestamp":1719878400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2024,9]]},"abstract":"Abstract<\/jats:title>Objective<\/jats:title>\nDYNC1H1<\/jats:italic> variants are involved on a disease spectrum from neuromuscular disorders to neurodevelopmental disorders. DYNC1H1<\/jats:italic>\u2010related epilepsy has been reported in small cohorts. We dissect the electroclinical features of 34 patients harboring de novo DYNC1H1<\/jats:italic> pathogenic variants, identify subphenotypes on the DYNC1H1<\/jats:italic>\u2010related epilepsy spectrum, and compare the genotype\u2013phenotype correlations observed in our cohort with the literature.<\/jats:p><\/jats:sec>Methods<\/jats:title>Patients harboring de novo DYNC1H1<\/jats:italic> pathogenic variants were recruited through international collaborations. Clinical data were retrospectively collected. Latent class analysis was performed to identify subphenotypes. Multivariable binary logistic regression analysis was applied to investigate the association with DYNC1H1 protein domains.<\/jats:p><\/jats:sec>Results<\/jats:title>\nDYNC1H1<\/jats:italic>\u2010related epilepsy presented with infantile epileptic spasms syndrome (IESS) in 17 subjects (50%), and in 25% of these individuals the epileptic phenotype evolved into Lennox\u2013Gastaut syndrome (LGS). In 12 patients (35%), focal onset epilepsy was defined. In two patients, the epileptic phenotype consisted of generalized myoclonic epilepsy, with a progressive phenotype in one individual harboring a frameshift variant. In approximately 60% of our cohort, seizures were drug\u2010resistant. Malformations of cortical development were noticed in 79% of our patients, mostly on the lissencephaly\u2013pachygyria spectrum, particularly with posterior predominance in a half of them. Midline and infratentorial abnormalities were additionally reported in 45% and 27% of subjects. We have identified three main classes of subphenotypes on the DYNC1H1<\/jats:italic>\u2010related epilepsy spectrum.<\/jats:p><\/jats:sec>Significance<\/jats:title>We propose a classification in which pathogenic de novo DYNC1H1<\/jats:italic> variants feature drug\u2010resistant IESS in half of cases with potential evolution to LGS (Class 1), developmental and epileptic encephalopathy other than IESS and LGS (Class 2), or less severe focal or genetic generalized epilepsy including a progressive phenotype (Class 3). We observed an association between stalk domain variants and Class 1 phenotypes. The variants p.Arg309His and p.Arg1962His were common and associated with Class 1 subphenotype in our cohort. These findings may aid genetic counseling of patients with DYNC1H1\u2010<\/jats:italic>related epilepsy.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.18054","type":"journal-article","created":{"date-parts":[[2024,7,2]],"date-time":"2024-07-02T18:27:05Z","timestamp":1719944825000},"page":"2728-2750","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Clinical features and genotype\u2013phenotype correlations in epilepsy patients with de novo DYNC1H1<\/i><\/scp> variants"],"prefix":"10.1111","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5118-5103","authenticated-orcid":false,"given":"Claudia","family":"Cuccurullo","sequence":"first","affiliation":[{"name":"Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences Federico II University of Naples Naples Italy"},{"name":"Neurology and Stroke Unit Ospedale del Mare Hospital Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3906-555X","authenticated-orcid":false,"given":"Emanuele","family":"Cerulli\u00a0Irelli","sequence":"additional","affiliation":[{"name":"Department of Human Neurosciences Sapienza University of Rome Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Ugga","sequence":"additional","affiliation":[{"name":"Department of Advanced Biomedical Sciences University Federico II Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9152-5571","authenticated-orcid":false,"given":"Antonella","family":"Riva","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa Genoa Italy"},{"name":"Medical Genetic Unit Istituti di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"D'Amico","sequence":"additional","affiliation":[{"name":"Department of Radiology \u201cTortorella\u201d private hospital Salerno Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Cabet","sequence":"additional","affiliation":[{"name":"Pediatric and Fetal Imaging, H\u00f4pital Femme\u2010M\u00e8re\u2010Enfant, Hospices Civils de Lyon Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7691-9492","authenticated-orcid":false,"given":"Gaetan","family":"Lesca","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Hospices Civils de Lyon Bron France"},{"name":"Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217 Universit\u00e9 Claude Bernard Lyon 1 Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonilda","family":"Bilo","sequence":"additional","affiliation":[{"name":"Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences Federico II University of Naples Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa Genoa Italy"},{"name":"Medical Genetic Unit Istituti di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catrinel","family":"Iliescu","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences \u201cCarol Davila\u201d University of Medicine and Pharmacy Bucharest Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Barca","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Expertise Center for Rare Diseases in Pediatric Neurology, member of the EpiCARE European Reference Network, \u201cProf. Dr. Alex. 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