Childhood-related neural genotype–phenotype in ATP1A3 mutations: comprehensive analysis

OY Muthaffar, A Alqarni, JA Shafei, SY Bahowarth… - Genes & Genomics, 2024 - Springer
Background ATP1A3 is a gene that encodes the ATPase Na+/K+ transporting subunit alpha-
3 isoenzyme that is widely expressed in GABAergic neurons. It maintains metabolic balance …