TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD.

Using RT–qPCR primers that distinguish wild type (WT) and KCNQ2 ∆E5 , we found a highly significant difference, with KCNQ2 ∆E5 detected exclusively in patient samples ( P < 0.0001 adjusting for age, sex and RNA integrity number (RIN); Supplementary Table 2 ), while the levels of WT KCNQ2 transcript were not different ( P = 0.9947 adjusting for age, sex and RIN; Supplementary Table 2 ) (Fig. 2f,g ).

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