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Background  N-methyl-D-aspartate (NMDA) receptors are ligand-gated ion channels that mediate excitatory synaptic transmission in the central nervous system. The functional NMDA receptors are heterotetramers consisting mainly of two GluN1 and two GluN2 subunits. GluN2 is encoded by the  GRIN2D  gene. A few case series have shown that  GRIN2D  variants are linked to developmental and epileptic encephalopathy. In this article, we report a novel  GRIN2D  variant, namely c.2021C > A (p.T674K) in a neonate with intractable epileptic encephalopathy.    Case presentation  A 12-day-old boy who had stiffness of the lower and upper extremities since birth was transferred from a local hospital to our department. On admission, the patient presented with head tilting backwards, staring, apnea and hypertonia of limbs. Video electroencephalogram showed continuous, generalized or multi-focal spike-wave and spike-and-slow wave discharges and hypsarrhythmia. A treatment regimen composed of phenobarbital, midazolam, levetiracetam and clonazepam was administered, which however led to only partial control of the seizure. Whole-exome sequencing identified c.2021C > A (p.T674K) in  GRIN2D  in the patient while such a mutation was not detected in the parents. The patient was hospitalized for 1 month and died of sudden cardio-respiratory arrest 2 weeks after discharge.    Conclusions  A novel variant of  GRIN2D  was identified in a neonate with epileptic encephalopathy. Epilepsy associated with this  GRIN2D  mutation is refractory to conventional anti-epileptic medications.

Identification of a novel GRIN2D variant in a neonate with intractable epileptic encephalopathy-a case report