Article
Electroclinical Features of Epilepsy in Kleefstra Syndrome.
Neuropediatrics - 1 Dec 2023
Giacomini Thea, Cordani Ramona, Bagnasco Irene, Vercellino Fabiana, Giordano Lucio, Milito Giuseppe, Ferrero Giovanni Battista, Mandrile Giorgia, Scala Marcello, Meli Mariaclaudia, Falsaperla Raffaele, Luria Gianvittorio, De Grandis Elisa, Canale Edoardo, Amadori Elisabetta, Striano Pasquale, Nobili Lino, Siri Laura
Abstract excerpt
BACKGROUND: Kleefstra syndrome (KS) or 9q34.3 microdeletion syndrome (OMIM #610253) is a rare genetic condition featuring intellectual disability, hypotonia, and dysmorphic facial features. Autism spectrum disorder, severe language impairment, and sleep disorders have also been described. The syndrome can be either caused by a microdeletion in 9q34.3 or by pathogenic variants in the euchromatin histone...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.