Associated Papers
Feeding-Triggered Seizures in a Newborn with AP1S1-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare Disease.
Cavalli A et al.
Journal of Clinical Medicine, 2025
Clinical and Genetic Functional Validation of a Novel AP1S1 Mutation Causing MEDNIK Syndrome.
Duan L et al.
International Journal of Genomics, 2025
IDEDNIK syndrome: a newly recognized rare genetic disorder caused by AP1S1 and AP1B1 mutations.
Wu R et al.
Frontiers in Neurology, 2025
Select a paper to view details