A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms
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DOI: 10.1093/brain/awy283
Abstract: 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… read more here.
Keywords: atp1a2 mutation; periodic paralysis; novel atp1a2; hypokalaemic periodic ... See more keywords