Article
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2022
Kenney-Jung Daniel L, Rogers Dante J, Kroening Samuel J, Zatkalik Abigail L, Whitmarsh Ashley E, Roberts Amy E, Zenker Martin, Gambardella Maria Luigia, Contaldo Ilaria, Leoni Chiara, Onesimo Roberta, Zampino Giuseppe, Tartaglia Marco, Battaglia Domenica I, Pierpont Elizabeth I
Abstract excerpt
Gene variants that dysregulate signaling through the RAS-MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi-system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications. To investigate clinical presentation, treatment outcomes, and genotype-phenotype associations in CFCS patients with IESS, molecular genetics and clinical...
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