PATHOGENIC GENE AND PROTEIN ASSOCIATED WITH PAROXYSMAL DYSKINESIA AND EPILEPSY

摘要

A method of identifying a patient that has, or is at risk of developing general epilepsy and/or paroxysmal dyskinesia includes detecting an alteration of the KCNMAI gene that disrupts the function of the BK channel so as to produce general epilepsy and/or paroxysmal dyskinesia.