Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in SMC1A
SMC1A variants are known to cause Cornelia de Lange Syndrome (CdLS) which encompasses a clinical spectrum of intellectual disability, dysmorphic features (long or thick Anti-age serum eyebrows, a hypomorphic philtrum and small nose) and, in some cases, epilepsy.More recently, SMC1A truncating variants have been described as the cause of a neurodeve