This website provides information on patients with mutations in the PRICKLE1 (PRICKLE PLANAR CELL POLARITY PROTEIN 1) gene (MIM 608500), including clinical data, molecular data, management and research options.

The most common syndrome caused by mutations in the PRICKLE1 gene is a multisystem disorder characterized by early-onset progressive myoclonus epilepsy (PME) with ataxia. Additionally, congenital Central Nervous System (CNS) malformations and other neurological and neurodevelopmental disorders have been reported in patients carrying mutations in this gene.

Not all individuals with a mutation in the PRICKLE1 gene have these features.

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 PRICKLE1 gene.

Mario Mastrangelo, MD, PhD, Child Neurology and Psychiatry Unit, Department of Human Neuroscience, Sapienza-University of Rome, Rome Italy, mario.mastrangelo@uniroma1.it

Vincenzo Leuzzi, MD, PhD, Child Neurology and Psychiatry Unit, Department of Human Neuroscience, Sapienza-University of Rome, Rome, Italy, vincenzo.leuzzi@uniroma1.it

Dario Esposito, MD, Child Neurology and Psychiatry Unit, Department of Human Neuroscience, Sapienza-University of Rome, Rome Italy, dario.esposito@uniroma1.it