Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

Cécile Saint-Martin  1 , Grégory Gauvain, Georgeta Teodorescu, Isabelle Gourfinkel-An, Estelle Fedirko, Yvonne G Weber, Snezana Maljevic, Jan-Peter Ernst, Jennie Garcia-Olivares, Christoph Fahlke, Rima Nabbout, Eric LeGuern, Holger Lerche, Jean Christophe Poncer, Christel Depienne

Hum Mutat. 2009 Mar;30(3):397-405.