{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T17:50:54Z","timestamp":1790013054087,"version":"4.0.1"},"reference-count":19,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T00:00:00Z","timestamp":1733788800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,12,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Familial hemiplegic migraine type 2 results from pathogenic variants in the ATP1A2 gene, which encodes for a catalytic subunit of sodium\/potassium ATPase. This extremely rare autosomal dominant disorder manifests with a spectrum of symptoms, most commonly pure hemiplegic phenotype, epilepsy, and\/or intellectual disability. In this study, we detail the clinical features and genetic analysis of nine patients from a large family spanning four generations, with all carrying a previously unreported likely pathogenic variant, p.Gly615Glu, in ATP1A2, compatible with a diagnosis of familial hemiplegic migraine type 2, fully penetrant with variable expressivity. This newly identified likely pathogenic variant primarily presented with psychiatric disturbances and a non-hemiplegic phenotype. Only one patient presented hemiplegic attacks, while seven were diagnosed with migraine with aura, including visual, sensory, and speech\/language aura, and one with migraine without aura. The identification of the genes responsible for the more common forms of migraine, both with and without aura, remains a significant challenge in migraine genetics and is critical for advancing personalized medicine.<\/jats:p>","DOI":"10.1093\/braincomms\/fcae447","type":"journal-article","created":{"date-parts":[[2024,12,11]],"date-time":"2024-12-11T04:05:17Z","timestamp":1733889917000},"source":"Crossref","is-referenced-by-count":3,"title":["Clinical characterization of a novel <i>ATP1A2<\/i> p.Gly615Glu mutation in nine family members with familial hemiplegic migraine"],"prefix":"10.1093","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6016-3141","authenticated-orcid":false,"given":"Marina","family":"Romozzi","sequence":"first","affiliation":[{"name":"Dipartimento Universitario di Neuroscienze, Universit\u00e0 Cattolica del Sacro Cuore , 00168 Roma ,","place":["Italy"]},{"name":"Neurologia, Dipartimento di neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS , 00168 Rome ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Spartano","sequence":"additional","affiliation":[{"name":"Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart and Complex Unit of Medical Genetics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS , 00168 Rome ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica Francesca","family":"L\u2019Erario","sequence":"additional","affiliation":[{"name":"Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart and Complex Unit of Medical Genetics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS , 00168 Rome ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi Francesco","family":"Iannone","sequence":"additional","affiliation":[{"name":"Section of Clinical Pharmacology and Oncology, Department of Health Sciences, University of Florence , 50134 Florence ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Trigila","sequence":"additional","affiliation":[{"name":"Dipartimento Universitario di Neuroscienze, Universit\u00e0 Cattolica del Sacro Cuore , 00168 Roma ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Gentile","sequence":"additional","affiliation":[{"name":"Dipartimento Universitario di Neuroscienze, Universit\u00e0 Cattolica del Sacro Cuore , 00168 Roma ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Sanginario","sequence":"additional","affiliation":[{"name":"Dipartimento Universitario di Neuroscienze, Universit\u00e0 Cattolica del Sacro Cuore , 00168 Roma 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