PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
Hormos Salimi DafsariJoshua G PembertonElizabeth A FerrerTony YammineChantal FarraMohammad Hasan MohammadiEhsan Ghayoor KarimianiNarges HashemiMirna SouaidSandra SabbaghParia Najarzadeh TorbatiSuliman KhanEmmanuel RozeAndrés Moreno De LucaAida M Bertoli-AvellaHenry HouldenTamas BallaReza MaroofianPublished in: Annals of clinical and translational neurology (2022)
Our study establishes the genotype-phenotype spectrum of PI4K-associated NDD and highlights several commonalities with other innate errors of intracellular trafficking.