This website provides information on patients with mutations in the KCNQ2 gene, including clinical data, molecular data, management, and research options.
KCNQ2-related disorders are caused by pathogenic variants in the KCNQ2 gene and are mainly characterised by neonatal seizures with or without developmental delay.
Not all individuals with a mutation in the KCNQ2 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 KCNQ2 gene.
Sarah Weckhuysen, MD, PhD, Applied & Translational Neurogenomics Group, VIB-Center for Molecular Neurology, VIB, Dept. of Neurology, University Hospital, Antwerp, Belgium, Sarah.firstname.lastname@example.org
Maurizio Taglialatela, MD, PhD, University of Naples Federico II, Naples, Italy, email@example.com