READ THE FULL PAPER: bit.ly/2BEyXo1
Sampedro Castaneda et al. describe a boy with hypokalaemic periodic paralysis (hypoPP) and epilepsy without mutations in known risk genes. They show that a de novo mutation in ATP1A2, encoding a Na+/K+-ATPase subunit, gives rise to an inward cation leak current analogous to leak currents seen in other hypoPP cases.