Apparent efficacy of NMDAR antagonist use as a targeted therapy for status epilepticus in an infant with ATP1A2-related developmental epileptic encephalopathy

Tekin Orgun et al. (2025) used Genomize-SEQ to identify a rare ATP1A2 gene mutation in an infant with life-threatening, treatment-resistant seizures, showing that memantine — a drug that blocks overactivated brain receptors — stopped the seizures entirely when all standard therapies had failed.