Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature.
Yashu SharmaArushi Gahlot SainiRajdeep KaurVikas BhatiaGunjan DidwalPawan KumarRevathi UppalaPublished in: Neuropediatrics (2022)
-related encephalopathy presents with infantile-onset neurodegeneration, progressive microcephaly, and epilepsy. Progressive brain atrophy and diffusion restriction in the white matter tracts are important radiological clues.