R. Badv

Identification of a Novel SLC18A2 Splicing Variant in a Case of Infantile Parkinsonism–Dystonia Type 2

The first genetically confirmed Iranian patient, an 18‐month‐old boy presenting with profound developmental delay, axial hypotonia, limb hypertonia, dystonia, oculogyric crises, ptosis, and autonomic dysfunction is reported, expanding the mutational spectrum of SLC18A2‐related disease and highlighting the importance of early genetic diagnosis.