Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

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, treat...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825647/
https://www.ncbi.nlm.nih.gov/pubmed/36448195
http://dx.doi.org/10.1002/ajmg.c.32022

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