{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T03:57:32Z","timestamp":1791950252509,"version":"4.3.4"},"reference-count":37,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2021,6,11]],"date-time":"2021-06-11T00:00:00Z","timestamp":1623369600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100010663","name":"European Research Council","doi-asserted-by":"publisher","award":["682345"],"award-info":[{"award-number":["682345"]}],"id":[{"id":"10.13039\/100010663","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Australian NHMRC Senior Research Fellowship","award":["1104718"],"award-info":[{"award-number":["1104718"]}]},{"name":"Channel Seven Children\u2019s Research Foundation"},{"name":"BOF-University of Antwerp","award":["FFB180053"],"award-info":[{"award-number":["FFB180053"]}]},{"name":"FWO-FKM","award":["1861419N"],"award-info":[{"award-number":["1861419N"]}]},{"DOI":"10.13039\/501100005941","name":"Dietmar-Hopp-Stiftung","doi-asserted-by":"crossref","award":["23011236"],"award-info":[{"award-number":["23011236"]}],"id":[{"id":"10.13039\/501100005941","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,12,31]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy to epilepsy of infancy with migrating focal seizures (EIMFS) and include developmental and epileptic encephalopathies. This study aims to provide a comprehensive overview of the phenotypic and genotypic spectrum of KCNT1 mutation-related epileptic disorders in 248 individuals, including 66 previously unpublished and 182 published cases, the largest cohort reported so far.<\/jats:p>\n               <jats:p>Four phenotypic groups emerged from our analysis: (i) EIMFS (152 individuals, 33 previously unpublished); (ii) developmental and epileptic encephalopathies other than EIMFS (non-EIMFS developmental and epileptic encephalopathies) (37 individuals, 17 unpublished); (iii) autosomal dominant or sporadic sleep-related hypermotor epilepsy (53 patients, 14 unpublished); and (iv) other phenotypes (six individuals, two unpublished). In our cohort of 66 new cases, the most common phenotypic features were: (i) in EIMFS, heterogeneity of seizure types, including epileptic spasms, epilepsy improvement over time, no epilepsy-related deaths; (ii) in non-EIMFS developmental and epileptic encephalopathies, possible onset with West syndrome, occurrence of atypical absences, possible evolution to developmental and epileptic encephalopathies with sleep-related hypermotor epilepsy features; one case of sudden unexplained death in epilepsy; (iii) in autosomal dominant or sporadic sleep-related hypermotor epilepsy, we observed a high prevalence of drug-resistance, although seizure frequency improved with age in some individuals, appearance of cognitive regression after seizure onset in all patients, no reported severe psychiatric disorders, although behavioural\/psychiatric comorbidities were reported in \u223c50% of the patients, sudden unexplained death in epilepsy in one individual; and (iv) other phenotypes in individuals with mutation of KCNT1 included temporal lobe epilepsy, and epilepsy with tonic-clonic seizures and cognitive regression.<\/jats:p>\n               <jats:p>Genotypic analysis of the whole cohort of 248 individuals showed only missense mutations and one inframe deletion in KCNT1. Although the KCNT1 mutations in affected individuals were seen to be distributed among the different domains of the KCNT1 protein, genotype\u2013phenotype considerations showed many of the autosomal dominant or sporadic sleep-related hypermotor epilepsy-associated mutations to be clustered around the RCK2 domain in the C terminus, distal to the NADP domain. Mutations associated with EIMFS\/non-EIMFS developmental and epileptic encephalopathies did not show a particular pattern of distribution in the KCNT1 protein. Recurrent KCNT1 mutations were seen to be associated with both severe and less severe phenotypes.<\/jats:p>\n               <jats:p>Our study further defines and broadens the phenotypic and genotypic spectrums of KCNT1-related epileptic conditions and emphasizes the increasingly important role of this gene in the pathogenesis of early onset developmental and epileptic encephalopathies as well as of focal epilepsies, namely autosomal dominant or sporadic sleep-related hypermotor epilepsy.<\/jats:p>","DOI":"10.1093\/brain\/awab219","type":"journal-article","created":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T19:20:23Z","timestamp":1623266423000},"page":"3635-3650","source":"Crossref","is-referenced-by-count":110,"title":["<i>KCNT1<\/i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum"],"prefix":"10.1093","volume":"144","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6266-3665","authenticated-orcid":false,"given":"Claudia M","family":"Bonardi","sequence":"first","affiliation":[{"name":"Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark"},{"name":"Department of Woman's and Child's Health, University Hospital of Padua, 35100 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrike O","family":"Heyne","sequence":"additional","affiliation":[{"name":"Finnish Institute for Molecular Medicine: FIMM, University of Helsinki, 00290 Helsinki, Finland"},{"name":"Program for Medical and Population Genetics, Broad Institute of MIT and Harvard, 02142 Cambridge, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Fiannacca","sequence":"additional","affiliation":[{"name":"Radiology Department, University of Genoa, 16126 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7121-0705","authenticated-orcid":false,"given":"Mark P","family":"Fitzgerald","sequence":"additional","affiliation":[{"name":"Division of Neurology, Departments of Neurology and Pediatrics, The Children\u2019s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7138-6022","authenticated-orcid":false,"given":"Elena","family":"Gardella","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark"},{"name":"Institute of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boudewijn","family":"Gunning","sequence":"additional","affiliation":[{"name":"Stichting Epilepsie Instellingen Nederland, Zwolle, 8025 BV, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kern","family":"Olofsson","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Danish Epilepsy Center, 4293 Dianalund, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ga\u00e9tan","family":"Lesca","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hospices Civils de Lyon, 69002 Bron, France"},{"name":"Institut NeuroMyoG\u00e8ne, CNRS UMR 5310 - INSERM U1217, Universit\u00e9 Claude Bernard Lyon 1, 69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nienke","family":"Verbeek","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center, 3584 CX Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Stamberger","sequence":"additional","affiliation":[{"name":"Neurogenetics Group, VIB-Center for Molecular Neurology, B-2610 Antwerp, Belgium"},{"name":"Department of Neurology, University Hospital, 2650 Antwerp, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"IRCCS \u2018G. Gaslini\u2019 Institute, University of Genoa, 16147 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"IRCCS \u2018G. Gaslini\u2019 Institute, University of Genoa, 16147 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria M","family":"Mancardi","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1272-0518","authenticated-orcid":false,"given":"Caroline","family":"Nava","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, APHP, GH Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen","family":"Syrbe","sequence":"additional","affiliation":[{"name":"Division of Pediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Buono","sequence":"additional","affiliation":[{"name":"Neurology Division, Hospital of National Relevance (AORN), Santobono Pausilipon, 80122 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Baulac","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau\u2014Paris Brain Institute\u2014ICM, Inserm, CNRS, F-75013, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonietta","family":"Coppola","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Reproductive and Odontostomatological Sciences, Federico II University, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Weckhuysen","sequence":"additional","affiliation":[{"name":"Neurogenetics Group, VIB-Center for Molecular Neurology, B-2610 Antwerp, 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