ATP6V1A variants are associated with childhood epilepsy with favorable outcome

The ATPase H+ transporting V1 subunit A gene (ATP6V1A; MIM: 607027), which resides on chromosomal locus 3q13.31, is predominantly expressed in the brain especially in frontal cortex, hypothalamus, and hippocampus (https://www.gtexportal.org/home/gene/ATP6V1A). It encodes a 69 kDa V-type proton ATPase catalytic subunit A (ATP6V1A) that is primarily distributed at cytoplasm membrane, cytoplasmic vesicles, and lysosomes [1–4]. The ATP6V1A protein is the A-subunit of the V1 domain of the vacuolar-ATPase (V-ATPase), which plays a critical role in pH homeostasis, intracellular signaling pathways, neurotransmitter release, neurite development, and synaptic connectivity [5–8].

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