Marina Trivisano, Angela De Dominicis, Fabrizia Stregapede, Chiara Quintavalle, Alessia Micalizzi, Simona Cappelletti, Maria Lisa Dentici, Lorenzo Sinibaldi, Costanza Calabrese, Alessandra Terracciano, Federico Vigevano, Antonio Novelli, Nicola Specchio
CSNK2B encodes a regulatory subunit of casein kinase II, which is highly expressed in the brain. Heterozygous pathogenic variants in CSNK2B are associated with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) (OMIM #618732), characterized by facial dysmorphisms, seizures, intellectual disability, and behavioral disturbances. We report ten new patients with CSNK2B-related Neurodevelopmental Syndrome associated with heterozygous variants of CSNK2B. In three patients, a pathogenic variant was inherited from an affected parent...
September 15, 2023: Epilepsy & Behavior: E&B