Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.

The E Cl s in cells expressing the A191V mutant in individuals 1 and 2 (−45.2 ± 3.7 mV, n = 10) and in the cells expressing the S323P mutant in individual 3 (−47.8 ± 3.5 mV, n = 10) also seemed to be more positive than that in WT-expresing cells, but did not reach statistical significance ( Fig. 2C ).

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