NPJ genomic medicine · 2026
Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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Arkush Leo, Karandasheva Kristina, Ouellet Frédérique, D'Gama Alissa M, Rosen Sheidley Beth, Liang Nicole S Y, Chau Vann, Costain Gregory, Smith Lacey, Alwis Anoushka, Eltze Christin, Poduri Annapurna, D'Arco Felice, Adams Josh, Lee Kristen, Singh Jaspal, Brown Alexander P Y, Nagendran Arjuna, Pode-Shakked Ben, Tzadok Michal, Ben Zeev Bruria, McTague Amy
Аннотация
Fibroblast growth factor-12 (FGF12) variants have been associated with developmental and epileptic encephalopathy (DEE) with evidence of modulation of voltage-gated sodium channels Nav1.2 and Nav1.6. We aim to expand the phenotypic spectrum of FGF12-related epilepsy with emphasis on precision therapy. We describe 12 patients: eight with neonatal onset seizures with the recurrent p.Arg52His (c.155 G > A) variant, two with a previously unreported p.Glu153Gly (c.458 A > G) variant, one with a p.Gly50Ser (c.148 G > A) 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's MRIs showed progressive cerebellar atrophy, and one patient's 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 FGF12-related epilepsy and discuss the role of early precision therapy in developmental and epilepsy outcomes.