ATP1A3 E815K Disrupts Sodium Homeostasis and Excitability in Human Alternating Hemiplegia of Childhood Neurons
Mazen Makke, ChungKu Lee, Elinor Lazarov, HongJun Rhee, Andreas Ohlenbusch, Lukas Cyganek, Maria-Patapia Zafeiriou, Jutta Gaertner, JeongSeop Rhee, Hendrik Rosewich
This study investigates the impact of the ATP1A3 E815K mutation on human neurons, showing disrupted sodium homeostasis and altered excitability.
bioRxiv · Oct 11, 2026 · PreprintNeuroscience