Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review.

Hum Mutat · 2024 · PMC11919110 · PMID 40225911

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The role of V-ATPase in pH homeostasis and intracellular signalling pathways is ubiquitous, but it is highly significant in neurons where it plays additional role in neurotransmitter loading into synaptic vesicles and synaptic transmission [ 21 , 22 ].

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