Connectomic and behavioural alterations in creatine transporter deficiency are partially normalized by gene therapy.

A similar inverse relationship and slope was also noticeable in Slc6a8-KO mice receiving AAV-hSLC6A8 injections, although the effect in this group did not reach statistical significance ( Fig. 5H ; Pearson’s r = −0.35; P = 0.18).

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Whole-brain volumetric analysis revealed a small but highly significant reduction in brain volume in Slc6a8-KO mice at both ages (P40: Δ = −4.9%; P140: Δ = −5.9%; Supplementary Fig. 9 ).

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