Article
Electroclinical phenotype in Rubinstein-Taybi syndrome.
Brain & development - 1 Jun 2016
Giacobbe Antonella, Ajmone Paola Francesca, Milani Donatella, Avignone Sabrina, Triulzi Fabio, Gervasini Cristina, Menni Francesca, Monti Federico, Biffi Daniela, Canavesi Katia, Costantino Maria Antonella
Abstract excerpt
OBJECTIVE: Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder (1:125.000) characterized by growth retardation, psychomotor developmental delay, microcephaly and dysmorphic features. In 25% of patients seizures have been described, and in about 66% a wide range of EEG abnormalities, but studies on neurological features are scant and dated. The aim of this study is to describe the electroclinical...
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