Associated Papers
Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia.
Maroofian R et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
Dafsari HS et al.
Annals of Clinical and Translational Neurology, 2022
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.
Mohamed M et al.
Journal of Inherited Metabolic Disease, 2020
PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.
Alkhater RA et al.
Annals of Clinical and Translational Neurology, 2018
Select a paper to view details