iarjmcrIARJMCRIARJMCR2709-3220https://doi.org/10.47310/iarjmcr.2022.v03i02.006GABRB3 Gene Mutation with Early Infantile Epileptic Encephalopathy with Co-existent Biotinidase and G6PD DeficiencyPrachiBiranganeAnushkaPrabhudesaiMurtujaShaikhPoonamWadeNair Hospital, Mumbai, IndiaGABRB3 gene mutations are known to cause early infantile epileptic encephalopathy (EIEE). We report a male infant who presented at 2 months of age with feeding difficulties, intractable seizures and developmental regression. Genetic testing revealed a likely pathogenic GABRB3 (c.860C>T; p.Thr287Ile) mutation along with biotinidase deficiency and G6PD deficiency. Despite multiple antiepileptic drugs, seizures remained frequent until biotin supplementation was started, after which seizure frequency decreased and skin/hair changes improved. This case highlights the importance of genetic and metabolic evaluation in infants with early-onset refractory epilepsy.