Identification of a novel homozygous intron 3 splice site (A>T) mutation in the ARG1 gene in cerebral palsy pediatric cases from Odisha, India.

The study reported the identification of a novel ARG1 mutation in two different unrelated pediatric cases from Odisha, India associated with hyperarginemia. The pathogenicity of the mutation was robustly supported by the clinical phenotype, complete co-segregation with the disease, and biochemical observations.