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Table 2 Clinical features of 52 patients with KCNQ2-related disorder

From: Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder

Patient Gender Age at onset (day) Follow-up time (months) Development Variants Location Type of variants GnomAD/1000gnome Clinvar/HGMD Reference Familial targeted variantion study
1 M 2 26 C NM_172107:exon15:c.1632 T > G(p.C544W) C-terminal region missense 0/0 / / De novo
2 M 2 28 C NM_172107:exon8:c.1064A > T(p.D355V) C-terminal region missense 0/0 / / De novo
3 F 10 26 C NM_172107:exon1:c.205del(p.K69Qfs*51) N-terminal region frameshift 0/0 Pathogenic/DM PMID 14985406 Paternal
4 M 13 21 D NM_172107:exon4:c.638G > A(p.R213Q) voltage-sensor
helix /S4
missense 0/0 Pathogenic/DM PMID 22275249 /
5 F 4 25 B NM_172107:exon14:c.1609A > T(p.K537X) C-terminal region stop_gained 0/0 Pathogenic/DM PMID 24375629 De novo
6 M 4 16 A NM_172107:exon4:c.553G > A(p.A185T) S3 missense 0/0 / / De novo
7 M 13 30 C NM_172107:exon15:c.1657C > T(p.R553W) C-terminal region missense 0/0 Pathogenic/DM PMID 23621294 /
8 F 1 12 A NM_172107:exon17:c.2127del(p.V710Cfs*155) C-terminal region frameshift 0/0 Pathogenic/DM PMID 29655203 /
9 F 3 39 A NM_172107:exon13:c.1342C > T(p.R448X) C-terminal region stop_gained 0/0 Pathogenic/DM PMID 11690625 /
10 F 2 18 D NM_172107:exon4:c.638G > A(p.R213Q) S4 missense 0/0 Pathogenic/DM PMID 22275249 De novo
11 F 4 24 A NM_172107:exon14:c.1631 + 1G > A C-terminal region splice_region 0/0 Pathogenic/DM PMID 25982755 /
12 F 3 40 A NM_172107:exon14:c.1601del(p.P534Rfs*31) C-terminal region frameshift 0/0 Likely Benign/NA / De novo
13 F 3 39 B NM_172107:exon8:c.1040A > G(p.Y347C) C-terminal region missense 0/0 / / De novo
14 F 3 50 A NM_172107:exon13:c.1452G > A(p.W484X) C-terminal region stop_gained 0/0 / / De novo
15 F 4 30 A NM_172107:exon8:c.1027G > T(p.A343S) C-terminal region missense 0/0 / / Maternal
16 F 1 18 A NM_172107:exon2:c.365C > T(p.S122L) the extracellular domain between the S1 segment and the S2 segment missense 0/0 Pathogenic/DM PMID 16916607 /
17 F 7 38 A NM_172107:exon11:c.1230del(p.P411Rfs*29) C-terminal region frameshift 0/0 NA/DM / Paternal
18 M 9 12 A NM_172107:exon4:c.668C > T(p.S223F) Cytoplasmic between S4 segment and S5 segment missense 0/0 / / De novo
19 F 3 13 A NM_172107:exon4:c.620G > A(p.R207Q) S4 missense 0/0 Pathogenic/DM PMID 17872363 De novo
20 M 3 16 A NM_172107:exon1:c.242 T > C(p.L81P) N missense 0/0 NA/DM PMID 29215089 /
21 M 3 42 A NM_172107:exon5:c.816 + 1G > A Pore loop/H5 splice_region 0/0 Likely pathogenic/NA / De novo
22 M 2 14 D NM_172107:exon5:c.794C > T(p.A265V) H5 missense 0/0 Pathogenic/DM PMID 22926866 /
23 F 1 15 D NM_172107:exon5:c.796G > C(p.D266H) H5 missense 0/0 / / De novo
24 M 2 5(deceased) D NM_172107:exon5:c.793G > A(p.A265T) H5 missense 0/0 Pathogenic/DM PMID 23692823 /
25 M 12 16 D NM_172107:exon4:c.617 T > G(p.L206R) S4 missense 0/0 / / De novo
26 M 4 49 B NM_172107:exon4:c.587C > T(p.A196V) S4 missense 0/0 Pathogenic/DM PMID 17475800 De novo
27 M 2 36 C NM_172107:exon4:c.637C > T(p.R213W) S4 missense 0/0 Pathogenic/DM PMID 18353052 De novo
28 M 2 7 (deceased) D NM_172107:exon4:c.629G > A(p.R210H) S4 missense 0/0 Pathogenic/DM PMID 24107868 /
29 F 4 28 D NM_172107:exon4:c.632 T > G(p.M211R) S4 missense 0/0 / / De novo
30 F 2 24 A NM_172107:exon7:c.997C > T(p.R333W) C-terminal region missense 0/0 NA/DM PMID 16039833 De novo
31 M 13 24 D NM_172107:exon5:c.715G > C(p.G239R) Pore domain/S5 missense 0/0 Pathogenic/DM PMID 23692823 De novo
32 M 1 12 C NM_172107:exon5:c.749 T > G(p.V250G) S5 missense 0/0 Pathogenic/DM PMID 11690625 De novo
33 M 3 14 C NM_172107:exon5:c.794C > T(p.A265V) H5 missense 0/0 Pathogenic/DM PMID 22926866 De novo
34 M 24 12 D NM_172107:exon4:c.568A > T(p.N190Y) the extracellular domains between the S3 segment and the S4 segment missense 0/0 / / De novo
35 F 1 52 D NM_172107:exon5:c.781 T > A(p.F261I) Pore loop missense 0/0 / / De novo
36 F 3 14 D NM_172107:exon15:c.1678C > T(p.R560W) C-terminal region missense 0/0 Pathogenic/DM PMID 22275249 De novo
37 F 2 25 C NM_172107:exon15:c.1678C > T(p.R560W) C-terminal region missense 0/0 Pathogenic/DM PMID 22275249 /
38 F 3 22 D NM_172107:exon15:c.1687G > A(p.D563N) C-terminal region missense 0/0 Pathogenic/DM PMID 26007637 De novo
39 F 1 40 C NM_172107:exon17:c.2331del(p.E778Rfs*152) C-terminal region frameshift 0/0 Likely benign-related/NA / De novo
40 M 2 50 D NM_172107:exon8:c.1049A > T(p.N350I) C-terminal region missense 0/0 Likely pathogenic/NA / De novo
41 M 11 12 C NM_172107:exon15:c.1687G > A(p.D563N) C-terminal region missense 0/0 Pathogenic/DM PMID 26007637 De novo
42 M 3 12 A NM_172107:exon3:c.484_485delAA(p.K162Vfs*10) Cytoplasmic between S2 segment and S3 segment frameshift 0/0 / / Paternal
43 M 2 12 C NM_172107:exon6:c.821C > T(p.T274M) H5 missense 0/0 Pathogenic /DM PMID 22275249 /
44 M 1 16 A NM_172107:exon4:c.650C > T(p.T217I) S4 missense 0/0 Likely pathogenic/NA / De novo
45 M 2 12 C NM_172107:exon5:c.807G > T(p.W269C) H5 missense 0/0 NA/DM-related PMID 14534157 De novo
46 F 1 54 C NM_172107:exon5: c.794C > T(p.A265V) H5 missense 0/0 Pathogenic/DM PMID 22926866 De novo
47 M 7 37 C NM_172107:exon5:c.715G > C(p.G239R) S5 missense 0/0 Pathogenic/DM PMID 23692823 De novo
48 F 2 46 C NM_172107:exon4:c.602G > A(p.R201H) S4 missense 0/0 Pathogenic/DM PMID 23708187 De novo
49 M 2 63 C NM_172107: exon4: c.637C > T(p.R213W) S4 missense 0/0 Pathogenic/DM PMID 18353052 De novo
50 M 3 12 C NM_172107:exon15:c.1678C > T(p.R560W) C-terminal region missense 0/0 Pathogenic/DM PMID 22275249 De novo
51 F 1 24 C NM_172107:exon5:c.740C > T(p.S247L) Pore domain/S5 missense 0/0 Pathogenic/Likely pathogenic​/DM-related PMID 16916607 De novo
52 M 2 12 C NM_172107:exon6:c.822_831delinsC(p.L275_T277del) H5 Microsatellite 0/0 NA/DM-related / De novo
  1. M = male; F = female; A = normal group; B = mild impairment group; C = encephalopathy group, including patients deceased; NA or /= no relevant information