Abstract
The KCNQ2 gene, encoding for the Kv7.2 subunits of the Kv7 voltage potassium channel, is involved in the modulation of neuronal excitability and plays a crucial role in brain morphogenesis and maturation during embryonic life. De novo heterozygous mutations in KCNQ2 genes are associated with early-onset epileptic encephalopathy and neurodevelopmental disorders including developmental delay and intellectual disability. However, little is known about the socio-communicative phenotype of children affected by the KCNQ2 mutation, and a detailed behavioral characterization focused on autistic symptoms has not yet been conducted. This case report describes the clinical behavioral phenotype of a 6-year-old boy carrying a de novo heterozygous KCNQ2 mutation, affected by early-onset seizures and autism spectrum disorder (ASD). We performed a neuropsychiatric assessment of cognitive, adaptive, socio-communicative and autistic symptoms through the administration of standardized tools. The main contribution of this case report is to provide a detailed developmental and behavioral characterization focused on ASD symptoms in a child with [c.812 G > A; p. (Gly271Asp)]mutation in the KCNQ2 gene.