This website provides information on patients with pathogenic variants in the KCNN2 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the KCNN2 gene is an autosomal dominant, variable disorder characterized by:
• Developmental delay
• Intellectual disability of variable severity
• Behavioral disturbances (autism spectrum disorder or autistic traits) or psychiatric features
• Movement disorders: tremor, cerebellar ataxia, extrapyramidal symptoms (dyskinesia, bradykinesia/parkinsonism, myoclonus-dystonia, motor tics)
• Seizures may be present in some individuals.
Not all individuals with a mutation in the KCNN2 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 KCNN2 gene.
We invite groups who have identified a mutation in KCNN2 in a patient to submit their data to the database.
Christel Depienne, PhD, Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany, email@example.com
Fanny Mochel, Associate professor, MD, PhD, Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière, Paris, France, firstname.lastname@example.org