Table 1.
Description of the CLCNKB mutations observed in our cohort and their in silico pathogenicity prediction.
Table 2.
Clinical characteristics of the 30 patients in our cohort (expressed as number or mean ± SD).
Table 3.
Long-term prognosis and clinical characteristics of 15 patients with CLCNKB mutations after 17 [14–2,2]* years of follow-up (expressed as number or mean ± SD).