We describe the clinical and molecular findings of a 6-year-old boy carrying a novel missense 964C>T mutation on the MECP2 gene. The patient shows moderate mental retardation with autistic features and epilepsy. His mother is heterozygous for the same mutation.
Department of Neurorehabilitation 2 Psychopathological Disturbances in Childhood and Adolescence, Scientific Institute Eugenio Medea for Research, Hospitalization and Healthcare, Regional Branch of Ostuni (BR), Italy.
