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Med."],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Fibroblast growth factor-12 (\n                    <jats:italic>FGF12<\/jats:italic>\n                    ) variants have been associated with developmental and epileptic encephalopathy (DEE) with evidence of modulation of voltage-gated sodium channels Na\n                    <jats:sub>v<\/jats:sub>\n                    1.2 and Na\n                    <jats:sub>v<\/jats:sub>\n                    1.6. We aim to expand the phenotypic spectrum of\n                    <jats:italic>FGF12-<\/jats:italic>\n                    related epilepsy with emphasis on precision therapy. We describe 12 patients: eight with neonatal onset seizures with the recurrent p.Arg52His (c.155\u2009G\u2009&gt;\u2009A) variant, two with a previously unreported p.Glu153Gly (c.458\u2009A\u2009&gt;\u2009G) variant, one with a p.Gly50Ser (c.148\u2009G\u2009&gt;\u2009A) variant, and one with a de novo whole-gene duplication. Atypical absence seizures were present in 5\/12 patients. Brain MRI was normal in 10\/12; one patient\u2019s MRIs showed progressive cerebellar atrophy, and one patient\u2019s MRI showed a hemispheric infarct. 8 patients promptly started on sodium channel blockers became seizure-free with good developmental outcomes while 4 developed DEE. In summary, we expand the phenotypic spectrum of\n                    <jats:italic>FGF12-<\/jats:italic>\n                    related epilepsy and discuss the role of early precision therapy in developmental and epilepsy outcomes.\n                  <\/jats:p>","DOI":"10.1038\/s41525-026-00581-0","type":"journal-article","created":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T16:07:05Z","timestamp":1779725225000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the phenotypic spectrum of FGF12-epilepsy\u2014does prompt precision therapy affect outcomes?"],"prefix":"10.1038","volume":"11","author":[{"given":"Leo","family":"Arkush","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Karandasheva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9rique","family":"Ouellet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alissa M.","family":"D\u2019Gama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth","family":"Rosen Sheidley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole S. 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