{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T15:29:31Z","timestamp":1776439771648,"version":"3.51.2"},"reference-count":36,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2023,7,20]],"date-time":"2023-07-20T00:00:00Z","timestamp":1689811200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"ANIA Foundation","award":["21.31"],"award-info":[{"award-number":["21.31"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Peripheral facial palsy rarely occurs as part of Melkersson\u2013Rosenthal syndrome (MRS), which is characterized by the classical triad of tongue cheilitis, recurrent episodes of orofacial swelling, and palsy. MRS is a disorder with variable expressivity and clinical as well as genetic heterogeneity; however, the causative gene remains to be identified. Migraine is a common neurological disorder, presenting with or without aura, which may be associated with neurological symptoms. The classical example of monogenic migraine is familial hemiplegic migraine (FHM), which has phenotypic variability in carriers of variants in the same gene or even carriers of the same variant. We present a family in which two sisters displayed recurrent migraines, one of which presented recurrent facial palsy and had clinical diagnosis of MRS. We performed WES and Sanger sequencing for segregation analysis in the available family members. We identified a c.3521C&gt;G missense heterozygous variant in SCN1A carried only by the affected sister. Variants in the SCN1A gene can cause a spectrum of early-onset epileptic encephalopathies, in addition to FHM; therefore, our finding reasonably explains the proband phenotype, in which the main symptom was recurrent facial palsy. This report also adds knowledge to the clinical spectrum of SCN1A alterations and suggests a potential overlap between MRS and FHM.<\/jats:p>","DOI":"10.3390\/genes14071482","type":"journal-article","created":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T01:52:35Z","timestamp":1689904355000},"page":"1482","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Melkersson\u2013Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3639-6687","authenticated-orcid":false,"given":"Alessia","family":"Azzar\u00e0","sequence":"first","affiliation":[{"name":"Research Unit of Medical Genetics, Department of Medicine and Surgery, Universit\u00e0 Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9424-4249","authenticated-orcid":false,"given":"Ilaria","family":"Cassano","sequence":"additional","affiliation":[{"name":"Research Unit of Medical Genetics, Department of Medicine and Surgery, Universit\u00e0 Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1209-8554","authenticated-orcid":false,"given":"Carla","family":"Lintas","sequence":"additional","affiliation":[{"name":"Research Unit of Medical Genetics, Department of Medicine and Surgery, Universit\u00e0 Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy"},{"name":"Operative Research Unit of Medical Genetics, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo 200, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7248-3916","authenticated-orcid":false,"given":"Fabio","family":"Pilato","sequence":"additional","affiliation":[{"name":"Research Unit of Neurology, Neurophysiology, Neurobiology and Psichiatry, Department of Medicine and Surgery, Universit\u00e0 Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy"},{"name":"Operative Research Unit of Neurology, Neurophysiology, Neurobiology and Psichiatry, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo 200, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fioravante","family":"Capone","sequence":"additional","affiliation":[{"name":"Research Unit of Neurology, Neurophysiology, Neurobiology and Psichiatry, Department of Medicine and Surgery, Universit\u00e0 Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy"},{"name":"Operative Research Unit of Neurology, Neurophysiology, Neurobiology and Psichiatry, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo 200, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9113-5925","authenticated-orcid":false,"given":"Vincenzo","family":"Di Lazzaro","sequence":"additional","affiliation":[{"name":"Research Unit of Neurology, Neurophysiology, Neurobiology and Psichiatry, Department of Medicine and Surgery, Universit\u00e0 Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy"},{"name":"Operative Research Unit of Neurology, Neurophysiology, Neurobiology and Psichiatry, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo 200, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6775-5972","authenticated-orcid":false,"given":"Fiorella","family":"Gurrieri","sequence":"additional","affiliation":[{"name":"Research Unit of Medical Genetics, Department of Medicine and Surgery, Universit\u00e0 Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy"},{"name":"Operative Research Unit of Medical Genetics, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo 200, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,7,20]]},"reference":[{"key":"ref_1","first-page":"68","article-title":"Recurrences of Bell\u2019s Palsy","volume":"7","author":"Cirpaciu","year":"2014","journal-title":"J. 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