This website provides information on patients with pathogenic variants in the KCNC1 gene, including clinical data, molecular data and management.

Pathogenic variants in KCNC1 have been associated with diverse phenotypes including progressive myoclonus epilepsy with ataxia (MEAK-Syndrome; Myoclonus and Ataxia due to Potassium channel mutation), non-progressive myoclonus alone, intellectual disability, and developmental and epileptic encephalopathy with myoclonic, absence and generalized seizures.

This website was created to share and collect information about clinical features, management and research projects to gather more knowledge and provide better treatment of patients with pathogenic variants in KCNC1.

We invite clinicians who have identified a variant in KCNC1 in a patient to submit their data to the database.

Joohyun Park, MD, Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany, joohyun.park@med.uni-tuebingen.de

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

Tobias B. Haack, MD, Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany, tobias.haack@med.uni-tuebingen.de