Heterozygous SLC1A2 mutation in a child with early infantile seizures and global developmental delay

Seizures are a major neurologic disorder in infants and children. It can affect children at any age, from birth through adolescence. Early onset of seizures or the first few months life cause severe cerebral dysfunction. Also, recurrent persistent lead to cognitive behavioral impairment Hence, control is crucial for optimal neurodevelopment. Genetic aetiology suspected early below one year refractory multiple anticonvulsants. testing with therapy resistant provides clue aetiology, helps treatment, has prognostic value. also estimate risk seizure recurrence avoid unnecessary investigations. We hereby report case global developmental delay. Next generation sequencing revealed heterozygous missense mutation SLC1A2 gene which identified as an epileptic encephalopathy (EE) associated gene.