Abstract
BackgroundN-methyl-d-aspartate receptors (NMDARs) are ligand-gated ion channels that mediate excitatory synaptic transmission and brain development in the central nervous system. Mutations in GRIN2D encoding the NMDAR subunit GluN2D are associated with a wide spectrum of neurodevelopmental disorders. MethodsWe report a novel de novo GRIN2D variant (NM_000836.2: c.2024C > T, p.Ala675Val) in an infant with severe developmental and epileptic encephalopathy. Clinical characteristics and treatment outcomes of patients with GRIN2D-related developmental and epileptic encephalopathy were summarized by reviewing the literature. ResultsIn silico analysis suggested this p.Ala675Val variant residing in the highly conserved M3 helix of GluN2D would interfere with channel gating. Therapeutic options including multiple anticonvulsants, oral corticosteroid therapy, and ketogenic diet failed to achieve seizure control. Eventually, adjunctive therapy with perampanel led to marked electroclinical improvement. ConclusionsPerampanel can be beneficial adjuvant therapy for patients with GRIN2D-related intractable epilepsy. Mechanistic understanding and case-per-se analysis are required to enable more individualized treatment for the patients.
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