More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome

Figure 2

Schematic representation showing dysfunctional Na⁺/K⁺-ATPase pump activity due to ATP1A3 mutation in neurons affecting glutamatergic system activity. Mutation in ATP1A3 causes a decrease in Na⁺/K⁺-ATPase pump activity and an increase in intracellular Na⁺, which result in hyperexcitability that affects neuronal function. Flunarizine and topiramate are shown as treatment options for the conditions caused by this mutation.