Homozygous Mutation in the QARS1 Gene Causing Developmental Epileptic Encephalopathy in Siblings in the Southeast Asian Region: An Interesting Case Report and Discussion.

Developmental epileptic encephalopathy (DEE) refers to conditions where cognitive functions are impacted both by seizures as well as interictal epileptiform activities and the neurobiological processes involved. They lead to early onset refractory epilepsy causing progressive decline in cerebral function, developmental delay, and significant EEG changes. Glutaminyl-tRNA synthetase (QARS) is encoded by the gene and its mutation has been implicated as one of the causes of DEE.