This website provides information on patients with mutations in the PI4KA gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the PI4KA gene is a multisystem disorder ranging from severe global neurodevelopmental delay with hypomyelination and developmental brain abnormalities to pure spastic paraplegia. Some patients present immunological deficits, gastrointestinal problems (inflammatory bowel disease, multiple intestinal atresia) or genitourinary abnormalities.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the PI4KA gene.
Aurora Pujol, MD, PhD, Hospital Duran i Reynals, L’Hospitalet de Llobregat, Spain, firstname.lastname@example.org
Agusti Rodriguez-Palmero, MD, Germans Trias i Pujol University Hospital, Badalona, Spain, email@example.com