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GRIN-related epileptic encephalopathy can present early in life with intellectual disability, continuous spike-and-wave during sleep syndrome (CSWS), or epilepsy-aphasia spectrum phenotypes such as in Landau-Kleffner syndrome. Efficacy of IVIG treatment was recently reported in a patient with LKS related to GRIN2A mutation.
We describe our experience with IVIG therapy in 5 patients (4 males, age range 6 months-13 years) with confirmed GRIN-related epileptic encephalopathy (4 with GRIN2A mutations presenting with epilepsy-aphasia spectrum/epileptic encephalopathy with CSWS and verbal, communicative and
behavioural regression, and one patient with GRIN2D mutation who presented with early infantile developmental-epileptic encephalopathy). All patients had global developmental delay/ intellectual disability in various degrees and were resistant to anticonvulsants. None of the patients had clinical seizures as a hallmark. All patients received monthly infusion of IVIG 2 g/ kg for 6 months; 2 patients were also treated with high-dose corticosteroids. No seizures were observed during the treatment
period in any of these patients. Marked electrographical improvement was noted in 4/5 patients, with complete normalization of the EEG in 2 patients. Expressive and receptive verbal abilities, communication skills and behaviour (hyperactivity, impulsivity and attention disorders) improved. However, visuospatial perceptual/spatial abilities, as well as executive functions and attention span remained significantly impaired.
Conclusion: IVIG should be considered in the treatment of GRIN-related epileptic encephalopathy and may lead to EEG normalization. Early treatment is advocated to rescue developmental milestones and improve developmental potential. Autoimmune mechanism in GRIN-related diseases should be further investigated.