A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy

Abstrakt

We read with interest the report by Kanani et al. describing the causality of de novo YWHAG missense variants in developmental and epileptic encephalopathies (DEE). This study presents an overview of the patient's phenotype and summarizes so far published findings in association with neurological conditions.

In our study, we describe a patient with a novel variant in the YWHAG gene that has a very similar phenotype, but co-presenting with attention deficit hyperactivity disorder (ADHD) syndrome, which we believe has not been reported previously. Therefore, our observations extend further the list of causal variants.

Klíčová slova

• de novo YWHAG
• epileptic encephalopathy