Annals of Indian Academy of Neurology
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Year : 2020  |  Volume : 23  |  Issue : 5  |  Page : 696-699

Identification of a novel mutation in GRIN2A gene with global developmental delay and refractory epilepsy

1 Department of Pediatric Neurology, Faculty of Medicine, Mersin University, Mersin, Turkey
2 Department of Medical Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey

Correspondence Address:
Esra Sarigecili
Mersin University, Faculty of Medicine, Department of Pediatric Neurology, Mersin
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_365_18

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We report a 2.5-year-old Turkish boy who first presented with nystagmus, lack of eye contact, and hypotonia at 2 months of age and developed refractory seizures when 6 months old. Extensive metabolic tests and imaging being noncontributory, whole-exome sequencing was carried out which revealed a heterozygote NM_001134407.2:C.3299A>G (p.Glu1100Gly) novel mutation in GRIN2A gene. Topiramate was started and seizures were rapidly brought under control. GRIN2A mutations may result in altered GluN2A membrane trafficking and response to glutamate. This report illustrates the clinical variability of GRIN2A mutations according to the age of onset of symptoms and suggests considering mutations in this gene in cases of global developmental delay, refractory epilepsy, and nystagmus.

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