This website provides information on patients with mutations in the PRRT2 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the PRRT2 gene is a multisystem disorder characterized by a combination of a benign familial infantile seizure syndrome (BFIS), paroxysmal kinesigenic dyskinesia (PKD) and hemiplegic migraine.
Not all individuals with a mutation in the PRRT2 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 PRRT2 gene.
Yvonne Weber, MD, Prof., Section of Epileptology, Dpt. of Neurology, RWTH University Aachen, Aachen, Germany, yweber@ukaachen.de
Stefan Wolking, MD, Dr., Section of Epileptology, Dpt. of Neurology, RWTH University Aachen, Aachen, Germany, swolking@ukaachen.de