The team led by Prof Dr Johannes Lemke analysed data from more than one hundred people with variants in the GRIN2A gene. The researchers found that those affected often fall ill at an early age and sometimes only show psychiatric symptoms. This clear assignment to a single gene is unusual, as GRIN2A is otherwise better known for neurological abnormalities such as epilepsy. The first indications of therapeutic opportunities are particularly exciting. Treatment with L-serine, which activates the NMDA receptor and thus influences the disturbed signalling flow in the brain, led to significant improvements in some patients. The team has been working on disorders of this receptor system for many years and has built up an international register, which has now led to a decisive breakthrough.
Press release from "Universitätsklinikum Leipzig" dated 14 November 2025