{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T04:54:55Z","timestamp":1783400095696,"version":"3.54.6"},"reference-count":33,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T00:00:00Z","timestamp":1715040000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Polish National Science Centre","award":["2015\/17\/B\/NZ4\/02669"],"award-info":[{"award-number":["2015\/17\/B\/NZ4\/02669"]}]},{"name":"Polish National Science Centre","award":["800\/N-ESF-EuroEPINOMICS\/102011\/0"],"award-info":[{"award-number":["800\/N-ESF-EuroEPINOMICS\/102011\/0"]}]},{"name":"Polish National Science Centre","award":["NN407054439"],"award-info":[{"award-number":["NN407054439"]}]},{"name":"Polish Minister of Education and Science","award":["2015\/17\/B\/NZ4\/02669"],"award-info":[{"award-number":["2015\/17\/B\/NZ4\/02669"]}]},{"name":"Polish Minister of Education and Science","award":["800\/N-ESF-EuroEPINOMICS\/102011\/0"],"award-info":[{"award-number":["800\/N-ESF-EuroEPINOMICS\/102011\/0"]}]},{"name":"Polish Minister of Education and Science","award":["NN407054439"],"award-info":[{"award-number":["NN407054439"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CIMB"],"abstract":"<jats:p>The aim of this study was to characterize the genotype and phenotype heterogeneity of patients with SCN1A gene mutations in the Polish population, fulfilling the criteria for the diagnosis of Dravet syndrome (DRVT). Particularly important was the analysis of the clinical course, the type of epileptic seizures and the co-occurrence of additional features such as intellectual disability, autism or neurological symptoms such as ataxia or gait disturbances. Based on their results and the available literature, the authors discuss potential predictors for DRVT. Identifying these early symptoms has important clinical significance, affecting the course and disease prognosis. 50 patients of the Pediatric Neurology Clinic of the Institute of Mother and Child in Warsaw clinically diagnosed with DRVT and carriers of SCN1A pathogenic variants were included. Clinical data were retrospectively collected from caregivers and available medical records. Patients in the study group did not differ significantly in parameters such as type of first seizure and typical epileptic seizures from those described in other studies. The age of onset of the first epileptic seizure was 2\u20139 months. The co-occurrence of intellectual disability was confirmed in 71% of patients and autism in 18%. The study did not show a correlation between genotype and phenotype, considering the severity of the disease course, clinical symptoms, response to treatment, the presence of intellectual disability, autism symptoms or ataxia. From the clinical course, a significant problem was the differentiation between complex febrile convulsions and symptoms of DRVT. The authors suggest that parameters such as the age of the first seizure, less than one year of age, the onset of a seizure up to 72 h after vaccination and the presence of more than two features of complex febrile seizures are more typical of DRVT, which should translate into adequate diagnostic and clinical management. The substantial decrease in the age of genetic verification of the diagnosis, as well as the decline in the use of sodium channel inhibitors, underscores the growing attention of pediatric neurologists in Poland to the diagnosis of DRVT.<\/jats:p>","DOI":"10.3390\/cimb46050269","type":"journal-article","created":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T03:23:19Z","timestamp":1715138599000},"page":"4437-4451","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["SCN1A\u2014Characterization of the Gene\u2019s Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience"],"prefix":"10.3390","volume":"46","author":[{"given":"El\u017cbieta","family":"Stawicka","sequence":"first","affiliation":[{"name":"Clinic of Paediatric Neurology, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Zieli\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0816-6411","authenticated-orcid":false,"given":"Paulina","family":"G\u00f3rka-Skoczylas","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolina","family":"Kanabus","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Tataj","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomasz","family":"Mazurczak","sequence":"additional","affiliation":[{"name":"Clinic of Paediatric Neurology, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7367-512X","authenticated-orcid":false,"given":"Dorota","family":"Hoffman-Zacharska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/74159","article-title":"Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2","volume":"24","author":"Escayg","year":"2000","journal-title":"Nat. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"5153","DOI":"10.1093\/brain\/awad245","article-title":"SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes","volume":"146","author":"Lewerissa","year":"2023","journal-title":"Brain"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1173460","DOI":"10.3389\/fneur.2023.1173460","article-title":"SCN1A channelopathies: Navigating from genotype to neural circuit dysfunction","volume":"14","author":"Bryso","year":"2023","journal-title":"Front Neurol."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Barbieri, R., Nizzari, M., Zanardi, I., Pusch, M., and Gavazzo, P. (2023). Voltage-Gated Sodium Channel Dysfunctions in Neurological Disorders. Life, 13.","DOI":"10.3390\/life13051191"},{"key":"ref_5","first-page":"S17","article-title":"SCN1A-related phenotypes: Epilepsy and beyond","volume":"3","author":"Scheffer","year":"2019","journal-title":"Epilepsia"},{"key":"ref_6","unstructured":"Szlendak, R. (2023). Developmental and Epileptic Encephalopathies as a Synaptpathies-assesment of the Role of NMDA Receptor in the Ethiopathogenesis of the Disease. [Ph.D. Desideration, Institute of Mother and Child\/Institute de Genomique Functionelle]."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1300952","DOI":"10.3389\/fgene.2023.1300952","article-title":"Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications","volume":"14","author":"Krygier","year":"2024","journal-title":"Front. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Sullivan, J., Ben\u00edtez, A., Roth, J., Andrews, J.S., Shah, D., Butcher, E., Jones, A., and Cross, J.H. (2024). A systematic literature review on the global epidemiology of Dravet syndrome and Lennox-Gastaut syndrome: Prevalence, incidence, diagnosis, and mortality. Epilepsia, 22.","DOI":"10.1111\/epi.17866"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"e5006","DOI":"10.1111\/j.1469-8749.2011.03964.x","article-title":"Dravet syndrome history","volume":"53","author":"Dravet","year":"2011","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1111\/epi.17882","article-title":"Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies","volume":"65","author":"Gallagher","year":"2024","journal-title":"Epilepsia"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1111\/epi.17239","article-title":"ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions","volume":"63","author":"Sameer","year":"2022","journal-title":"Epilepsia"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1636","DOI":"10.1111\/j.1528-1167.2006.00643.x","article-title":"Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy","volume":"47","author":"Ohmori","year":"2006","journal-title":"Epilepsia"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1669","DOI":"10.1111\/j.1528-1167.2010.02645.x","article-title":"Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: Associated with loss of function of Na(v) 1.1","volume":"51","author":"Liao","year":"2010","journal-title":"Epilepsia"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"E747","DOI":"10.1002\/humu.21041","article-title":"A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: Common mechanism in Nav1.1 related epilepsies?","volume":"30","author":"Rusconi","year":"2009","journal-title":"Hum. Mutat."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"10288","DOI":"10.1038\/s41598-020-67215-y","article-title":"A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients","volume":"10","author":"Kluckova","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Witkowski, G., Szulczyk, B., Nurowska, E., Jurek, M., Pasierski, M., Lipiec, A., Charzewska, A., Dawidziuk, M., Milewski, M., and Owsiak, S. (2024). Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms25031745"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/j.braindev.2009.01.001","article-title":"Dravet syndrome or genetic (generalized) epilepsy with febrile seiz.ures plus?","volume":"31","author":"Scheffer","year":"2009","journal-title":"Brain Dev."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"801321","DOI":"10.3389\/fped.2021.801321","article-title":"A Review of Febrile Seizures: Recent Advances in Understanding of Febrile Seizure Pathophysiology and Commonly Implicated Viral Triggers","volume":"9","author":"Sawires","year":"2022","journal-title":"Front. Pediatr."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1212\/WNL.0000000000003716","article-title":"Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations","volume":"14","author":"Cetica","year":"2017","journal-title":"Neurology."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"2205","DOI":"10.1111\/epi.17015","article-title":"Defining Dravet syndrome: An essential pre-requisite for precision medicine trials","volume":"62","author":"Li","year":"2021","journal-title":"Epilepsia"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1016\/S1474-4422(06)70446-X","article-title":"De-novo mutations of the sodium channel gene SCN1A in alleged vacine encephalopathy: A retrospective study","volume":"5","author":"Berkovic","year":"2006","journal-title":"Lancet Neurol."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Charzewska, A., Terczy\u0144ska, I., Lipiec, A., Mazurczak, T., G\u00f3rka-Skoczylas, P., Szlendak, R., Kanabus, K., Tataj, R., Dawidziuk, M., and Wojta\u015b, B. (2023). Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24021117"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1111\/dmcn.15495","article-title":"Intellectual functioning and adaptive behaviour in children with Dravet syndrome: A population-based study","volume":"65","author":"Reilly","year":"2023","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"107079","DOI":"10.1016\/j.yebeh.2020.107079","article-title":"Intellectual functioning and behavior in Dravet syndrome: A systematic review","volume":"108","author":"Jansson","year":"2020","journal-title":"Epilepsy Behav."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1111\/epi.16456","article-title":"New insights into the early mechanisms of epileptogenesis in a zebrafish model of Dravet syndrome","volume":"61","author":"Tiraboschi","year":"2020","journal-title":"Epilepsia"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.yebeh.2015.04.057","article-title":"Autism and behavior in adult patients with Dravet syndrome (DS)","volume":"47","author":"Berkvens","year":"2015","journal-title":"Epilepsy Behav."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1002\/epi4.12281","article-title":"Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype","volume":"4","author":"Ouss","year":"2018","journal-title":"Epilepsia Open."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/j.1528-1167.2011.02994.x","article-title":"The core Dravet syndrome phenotype","volume":"52","author":"Dravet","year":"2011","journal-title":"Epilepsia"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1111\/epi.12532","article-title":"Long-term course of Dravet syndrome: A study from an epilepsy center in Japan","volume":"55","author":"Takayama","year":"2014","journal-title":"Epilepsia"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1016\/j.braindev.2013.10.004","article-title":"Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations","volume":"36","author":"Xu","year":"2014","journal-title":"Brain Dev."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.1542\/peds.2015-1807","article-title":"Incidence of Dravet Syndrome in a US Population","volume":"136","author":"Wu","year":"2015","journal-title":"Pediatrics"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1086\/320609","article-title":"De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy","volume":"68","author":"Claes","year":"2001","journal-title":"Am. J. Hum. Genet."}],"container-title":["Current Issues in Molecular Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1467-3045\/46\/5\/269\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:41:18Z","timestamp":1760107278000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1467-3045\/46\/5\/269"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,7]]},"references-count":33,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,5]]}},"alternative-id":["cimb46050269"],"URL":"https:\/\/doi.org\/10.3390\/cimb46050269","relation":{},"ISSN":["1467-3045"],"issn-type":[{"value":"1467-3045","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,7]]}}}