Investigates SLC12A5 variants affecting KCC2 functions in early neural development, highlighting potential therapeutic targets.
These data demonstrate that SLC12A5-related DEE can result from combined impairment of KCC2-dependent chloride homeostasis and disruption of chloride-independent KCC2 functions critical for early neuronal development. This work expands the mutational and mechanistic spectrum of SLC12A5-DEE and highlights the importance of KCC2 regulatory roles in early brain development, providing new knowledge and tools for basic research and potential avenues for targeted precision therapies.
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Hamze et al. (2026) studied this question.
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