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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… Click to show full 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 to an inward cation leak current analogous to leak currents seen in other hypoPP cases.
Keywords:
atp1a2 mutation;
periodic paralysis;
novel atp1a2;
hypokalaemic periodic
Journal Title: Brain
Year Published: 2018
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Journal Title: Brain
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!