{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T02:51:09Z","timestamp":1791859869037,"version":"4.3.4"},"reference-count":63,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T00:00:00Z","timestamp":1774483200000},"content-version":"am","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100012264","name":"NIH","doi-asserted-by":"publisher","award":["NS108874"],"award-info":[{"award-number":["NS108874"]}],"id":[{"id":"10.13039\/501100012264","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012264","name":"NIH","doi-asserted-by":"publisher","award":["OD034362"],"award-info":[{"award-number":["OD034362"]}],"id":[{"id":"10.13039\/501100012264","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014370","name":"Simons Foundation Autism Research Initiative","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014370","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Research Service","award":["F31NS141565"],"award-info":[{"award-number":["F31NS141565"]}]},{"DOI":"10.13039\/100001454","name":"American Epilepsy Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001454","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Predoctoral Research Fellowship"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Familial hemiplegic migraine (FHM) is a severe autosomal dominant subtype of migraine with aura, characterized by transient motor weakness during attacks. Known genes (CACNA1A, ATP1A2, SCN1A, PRRT2) account for fewer than 20% of genetically diagnosed cases.<\/jats:p>\n                  <jats:p>To identify novel genetic contributors to FHM, we performed whole-genome linkage analysis and partial exome sequencing in a four-generation pedigree. A candidate ion channel gene (SCN2A) was subsequently screened in six additional pedigrees with multiple affected members and in a cohort of 594 unrelated probands with familial or sporadic hemiplegic migraine without mutations in known FHM genes. Functional consequences of identified variants were assessed using heterologous expression and automated patch clamp recording. The neurophysiological impact of SCN2A dysfunction was investigated using computational neuron models.<\/jats:p>\n                  <jats:p>We identified a heterozygous missense mutation (c.4438A&amp;gt;G, p.Lys1480Glu) in SCN2A, encoding the neuronal voltage-gated sodium channel NaV1.2, which co-segregated with the FHM phenotype. Additional SCN2A variants (c.769T&amp;gt;A, p.Phe257Ile and c.3955C&amp;gt;G, p.Arg1319Gly) were found in a second family and a sporadic case, respectively. All variants were absent from the gnomAD database. All 10 individuals carrying a SCN2A variant experienced typical hemiplegic migraine attacks beginning in childhood. Two children heterozygous for p.Phe257Ile also had self-limited infantile seizures during the first year of life. None of the affected individuals exhibited permanent cerebellar ataxia, intellectual disability or recurrent febrile coma. Functional studies revealed altered voltage-dependent and kinetic properties in all three variants that elicited abnormal action potential firing in a computer model of a neuron, supporting their pathogenicity.<\/jats:p>\n                  <jats:p>These findings implicate SCN2A dysfunction in both familial and sporadic hemiplegic migraine, expanding the genetic landscape of migraine and the phenotypic spectrum associated with SCN2A variants.<\/jats:p>","DOI":"10.1093\/brain\/awag109","type":"journal-article","created":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T12:39:02Z","timestamp":1774355942000},"source":"Crossref","is-referenced-by-count":1,"title":["<i>SCN2A<\/i>\n                    variants are associated with familial and sporadic hemiplegic migraine"],"prefix":"10.1093","author":[{"given":"Florence","family":"Riant","sequence":"first","affiliation":[{"name":"Molecular Neurogenetics Unit, APHP\u2014Piti\u00e9-Salp\u00eatri\u00e8re Hospital , Paris 75013 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3713-630X","authenticated-orcid":false,"given":"Christopher H","family":"Thompson","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Northwestern University Feinberg School of Medicine , Chicago, IL 60611 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syed M A","family":"Wafa","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Northwestern University Feinberg School of Medicine , Chicago, IL 60611 ,","place":["USA"]},{"name":"Interdepartmental Neuroscience Program, Northwestern University , Chicago, IL 60611 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy A","family":"Fenton","sequence":"additional","affiliation":[{"name":"Department of Neurology, MIND Institute, University of California Davis School of Medicine , Sacramento, CA 95817 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Marc","family":"DeKeyser","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Northwestern University Feinberg School of Medicine , Chicago, IL 60611 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana V","family":"Abramova","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Northwestern University Feinberg School of Medicine , Chicago, IL 60611 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reshma R","family":"Desai","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Northwestern University Feinberg School of Medicine , Chicago, IL 60611 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Gazal","sequence":"additional","affiliation":[{"name":"Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California , Los Angeles, CA 90033 ,","place":["USA"]},{"name":"Center for Genetic Epidemiology, Keck School of Medicine, University of Southern California , Los Angeles, CA 90033 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Moulin","sequence":"additional","affiliation":[{"name":"Department of Neurology, CHU de Besan\u00e7on , Besan\u00e7on 25030 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denys","family":"Chaigne","sequence":"additional","affiliation":[{"name":"Neurology Consultation, Rh\u00e9na Clinic , Strasbourg 67000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lotfi","family":"Kort","sequence":"additional","affiliation":[{"name":"Neurology Practice , Evreux 27000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaelle","family":"Corpechot","sequence":"additional","affiliation":[{"name":"Department of Genetics, APHP\u2014Bichat Claude-Bernard Hospital , Paris 75018 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Tournier-Lasserve","sequence":"additional","affiliation":[{"name":"GenoVasc Team, INSERM U1127, Paris Brain Institute, Paris-Cit\u00e9 University , Paris 75013 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roy","family":"Ben-Shalom","sequence":"additional","affiliation":[{"name":"Department of Neurology, MIND Institute, University of California Davis School of Medicine , Sacramento, CA 95817 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3993-966X","authenticated-orcid":false,"suffix":"Jr","given":"Alfred L","family":"George","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Northwestern University Feinberg School of Medicine , Chicago, IL 60611 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5560-5013","authenticated-orcid":false,"given":"Anne","family":"Ducros","sequence":"additional","affiliation":[{"name":"Department of Neurology, CHU de Montpellier , Montpellier 34090 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,3,26]]},"reference":[{"key":"2026101222361439100_awag109-B1","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1056\/NEJM200107053450103","article-title":"The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel","volume":"345","author":"Ducros","year":"2001","journal-title":"N Engl J 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The international classification of headache disorders, 3rd edition","volume":"38","year":"2018","journal-title":"Cephalalgia"},{"key":"2026101222361439100_awag109-B3","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1038\/s41572-021-00328-4","article-title":"Migraine","volume":"8","author":"Ferrari","year":"2022","journal-title":"Nat Rev Dis Primers"},{"key":"2026101222361439100_awag109-B4","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/S1474-4422(11)70048-5","article-title":"Sporadic and familial hemiplegic migraine: Pathophysiological mechanisms, clinical characteristics, diagnosis, and management","volume":"10","author":"Russell","year":"2011","journal-title":"Lancet Neurol"},{"key":"2026101222361439100_awag109-B5","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/s10194-023-01547-8","article-title":"Genetics of migraine: Where are we now?","volume":"24","author":"Grangeon","year":"2023","journal-title":"J Headache 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