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Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders
Dr. Fanny Mochel, (Sorbonne University/Inserm/AP-HP/CNRS) and Prof. Christel Depienne (Institute of Human Genetics at Essen University Hospital, Germany) have identified a new syndrome associated with SK2 channel mutations. Working in collaboration with ePHYS, the teams have demonstrated the deleterious role of mutations on SK2 channel function using the patch-clamp technique. For more information click here or here.