Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Broadening our analysis to nominally significant ( P < 0.05) FRASER2 outliers showed that individuals with the dominant disorder have a significantly greater number of nominally significant splicing outliers in blood than controls (mean splicing outliers, 7,072 vs 5,267; two-tailed Mann–Whitney U -test P = 0.0112), whereas individuals with candidate biallelic variants did not (mean, 5,722 vs 5,266; P = 0.695) (Fig. 5a ).

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