Article
Epilepsy in a cohort of children with Noonan syndrome and related disorders.
European journal of pediatrics - 1 Aug 2022
Davico Chiara, D'Alessandro Rossella, Borgogno Marta, Campagna Filippa, Torta Francesca, Ricci Federica, Amianto Federico, Vittorini Roberta, Carli Diana, Mussa Alessandro, Vitiello Benedetto, Ferrero Giovanni Battista
Abstract excerpt
Noonan syndrome (NS) and related disorders encompass a phenotypically heterogeneous group of conditions due to mutations in the Ras/Mitogen-activated protein kinase pathway. The main objective of this study was to assess the presence and characteristics of epilepsy in children and adolescents affected by NS and related disorders. The study included all the patients aged 5-21 years who had been diagnosed with NS...
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