{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T01:45:00Z","timestamp":1773020700587,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T00:00:00Z","timestamp":1709510400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic variants in <jats:italic>SCN8A<\/jats:italic> are associated with a broad phenotypic spectrum, including Self\u2010Limiting Familial Infantile Epilepsy (SeLFIE), characterized by infancy\u2010onset age\u2010related seizures with normal development and cognition. Movement disorders, particularly paroxysmal kinesigenic dyskinesia typically arising after puberty, may represent another core symptom. We present the case of a 1\u2010year\u2010old girl with a familial disposition to self\u2010limiting focal seizures from the maternal side and early\u2010onset orofacial movement disorders associated with <jats:italic>SCN8A<\/jats:italic>\u2010SeLFIE. Brain MRI was normal. Genetic testing revealed a maternally inherited <jats:italic>SCN8A<\/jats:italic> variant [c.4447G\u2009&gt;\u2009A; p.(Glu1483Lys)]. After the introduction of valproic acid, she promptly achieved seizure control as well as complete remission of strabismus and a significant decrease in episodes of tongue deviation. Family history, genetic findings, and epilepsy phenotype are consistent with <jats:italic>SCN8A<\/jats:italic>\u2010SeLFIE. Movement disorders are an important part of the <jats:italic>SCN8A<\/jats:italic> phenotypic spectrum, and this case highlights the novel early\u2010onset orofacial movement disorders associated with this condition. The episodes of tongue deviation and protrusion suggest focal oromandibular (lingual) dystonia. Additionally, while infantile strabismus or esophoria is a common finding in healthy individuals, our case raises the possibility of an ictal origin of the strabismus. This study underscores the importance of recognizing and addressing movement disorders in <jats:italic>SCN8A<\/jats:italic>\u2010SeLFIE patients, particularly the rare early\u2010onset orofacial manifestations. It adds to the growing body of knowledge regarding the diverse clinical presentations of <jats:italic>SCN8A<\/jats:italic>\u2010associated disorders and suggests potential avenues for clinical management and further research.<\/jats:p>","DOI":"10.1002\/epd2.20203","type":"journal-article","created":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T11:31:24Z","timestamp":1709551884000},"page":"219-224","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Emergence of lingual dystonia and strabismus in <scp>early\u2010onset <i>SCN8A<\/i> self\u2010limiting<\/scp> familial infantile epilepsy"],"prefix":"10.1002","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2242-6929","authenticated-orcid":false,"given":"Caterina","family":"Ancora","sequence":"first","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Treatment Danish Epilepsy Centre  Dianalund Denmark"},{"name":"Pediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health Padova University Hospital  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Dario","family":"Ortigoza\u2010Escobar","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit Institut de Recerca Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"U\u2010703 Centre for Biomedical Research on Rare Diseases (CIBER\u2010ER) Instituto de Salud Carlos III  Barcelona Spain"},{"name":"European Reference Network for Rare Neurological Diseases (ERN\u2010RND)  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margherita Aluffi","family":"Valletti","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Treatment Danish Epilepsy Centre  Dianalund Denmark"},{"name":"University of Genova  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4893-9768","authenticated-orcid":false,"given":"Francesca","family":"Furia","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Treatment Danish Epilepsy Centre  Dianalund Denmark"},{"name":"Department of Regional Health Research University of Southern Denmark  Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jens Erik Klint","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Pediatrics Department Zealand University Hospital  Roskilde Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9664-1448","authenticated-orcid":false,"given":"Rikke S.","family":"M\u00f8ller","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Treatment Danish Epilepsy Centre  Dianalund Denmark"},{"name":"Department of Regional Health Research University of Southern Denmark  Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7138-6022","authenticated-orcid":false,"given":"Elena","family":"Gardella","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Treatment Danish Epilepsy Centre  Dianalund Denmark"},{"name":"Department of Regional Health Research University of Southern Denmark  Odense Denmark"},{"name":"Pediatrics Department Zealand University Hospital  Roskilde Denmark"},{"name":"Department of Clinical Neurophysiology Danish Epilepsy Centre  Dianalund Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,3,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.16319"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24580"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17239"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab321"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv317"},{"key":"e_1_2_9_7_1","first-page":"4","volume-title":"14th European epilepsy congress July 09\u201313","author":"Aluffi Valletti 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