This website provides information on patients with pathogenic variants in KCNA2, including clinical data, molecular data, management and research options.

KCNA2-related disorder is associated with early-onset developmental and epileptic encephalopathy, developmental delay/intellectual disability (DD/ID), and movement disorders resulting from cerebellar dysfunction. Some individuals can have a less severe phenotype comprising a milder course of epilepsy, complicated hereditary spastic paraplegia, and episodic ataxia.

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 pathogenic variants in KCNA2.

Johannes Lemke, MD, Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany, Johannes.Lemke@medizin.uni-leipzig.de

Steffen Syrbe, MD, Children’s Hospital, University of Heidelberg, Heidelberg, Germany, steffen.syrbe@med.uni-heidelberg.de

Holger Lerche, MD, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany, holger.lerche@uni-tuebingen.de