Thea Giacomini, Ramona Cordani, Irene Bagnasco, Fabiana Vercellino, Lucio Giordano, Giuseppe Milito, Giovanni Battista Ferrero, Giorgia Mandrile, Marcello Scala, Mariaclaudia Meli, Raffaele Falsaperla, Gianvittorio Luria, Elisa De Grandis, Edoardo Canale, Elisabetta Amadori, Pasquale Striano, Lino Nobili, Laura Siri
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 methyltransferase 1 gene ( EHMT1 , *607001). Although epilepsy has been reported in 20 to 30% of subjects, a detailed description of epileptic features and underlying etiology is still lacking...
December 2023: Neuropediatrics