Non-Convulsive Status Epilepticus and Mild Neurodevelopmental Phenotype in a Female with a Novel p.Thr657Ala Variant in the GRIA3 Gene

<b>Background:</b> The <i>GRIA3</i> gene encodes the GluA3 subunit of AMPA-type glutamate receptors, which are crucial for excitatory neurotransmission in the central nervous system. Pathogenic <i>GRIA3</i> variants cause X-linked neurodevelopmental disorders of varying severity, including developmental delay, behavioral abnormalities, and epilepsy. <b>Case Summary:</b> Here, we present the case of a seven-year-old female patient presenting with developmental delay, spastic gait, and non-convulsive status epilepticus (NCSE), who was found to carry a novel de novo <i>GRIA3</i> missense variant (c.1969A > G; p.Thr657Ala). The EEG revealed high-amplitude diffuse rhythmic theta/delta activity consistent with NCSE. A brain MRI showed transient cortical and thalamic T2-FLAIR hyperintensities, likely postictal. Metabolic investigations were unremarkable. Following intensive treatment with levetiracetam and midazolam, the patient gradually recovered to her baseline neurological status. <b>Genetic Finding:</b> Whole-exome sequencing (WES) identified a novel de novo variant in <i>GRIA3</i>, c.1969A > G; p.Thr657Ala, involving the replacement of threonine with alanine at position 657 within the coding region. <b>Significance:</b> This case expands the clinical and molecular spectrum of <i>GRIA3</i>-related disorders, demonstrating that females with de novo variants may experience severe epilepsy. This is the first reported case of NCSE in a female patient with a <i>GRIA3</i> variant.