Targeted phenotype/gene/disorder under study:
PI4K2A (MIM*609763), Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities (MIM#620732).
Abstract
PI4K2A encodes phosphatidylinositol 4-kinase type 2 alpha, a key enzyme in intracellular vesicular trafficking and phosphoinositide signaling. To date, four patients have been described, all presenting with global developmental delay, failure to thrive, epilepsy, and dysmorphic features. Neuroimaging findings frequently include corpus callosum dysgenesis, white matter volume loss, hypoplastic pons, and cerebellar anomalies. A prominent clinical hallmark is a severe movement disorder—particularly orolingual dyskinesias—often accompanied by dystonia and choreoathetoid movements. Treatment has proven difficult, with only partial or intermittent responses to multiple anti-seizure medications. We are seeking collaborations to further delineate the full phenotypic spectrum and to explore functional studies that could improve management strategies for PI4K2A-related disorders.
Coordinating clinician
Dr. Reza Maroofian, PhD – r.maroofian@ucl.ac.uk
Dr. Juan Darío Ortigoza Escobar, MD, PhD – juandario.ortigoza@sjd.es
Institution
UCL Institute of Neurology, Queen Square, London
Hospital Sant Joan de Déu, Barcelona
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No