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. 2021 Jul 12;12:4251. doi: 10.1038/s41467-021-24524-8

Table 1.

Baseline demographic and clinical characteristics of the 7 subjects.

Characteristic Subject 1 Subject 2 Subject 3 Subject 4 Subject 5 Subject 6 Subject 7
Age (y), sex 9.0, F 8.0, F 5.9, M 5.1, M 6.7, F 6.2, F 4.5, M
Motor development
  Head control No Partial No No Partial No No
  Reach/grasp No No No No Yes No No
  Sit independently No No No No No No No
Symptoms
  OGC ++ ++ ++ ++ ++ ++ ++
  Irritability ++ + + ++ + + +
  Insomnia ++ ++ ++ + - ++ +
DDC genotypea c.714+4A > T; c.714+4A > T; c.714+4A > T;

c.19C > T

p. (Arg7X);

 c.714+4A > T; c.714+4A > T; c.782-3T > A;

c.364C > T

p.(Phe122Leu)

c.179T > C

p.(Val60Ala)

c.1233dupT

p.(Arg412Trp_fs)

c.304G > A

p. (Gly102Ser)

c.1312T > C

p.(Cys438Arg)

 c.714+4A > T

c.1217T > A

p.(Leu406Gln)
 Follow-up duration 38 months 34 months 30 months 22 months 20 months 7 months 7 monthsb

M male, F female, OGC oculogyric crises, ++ severe, + mild or moderate, - absent.

aDDC reference sequence: NM_001082971.1(DDC).

bSubject 7 died 7 months after the procedure.