Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.

Of the 66 germline de novo variants assessed, 64 (97.0%) resulted in loss of function ( Figure 2 E), and the remaining two showed a trend toward reduced GABA uptake (−20.2% for c.1096C>G [p.Leu366Val], −41.7% for c.1484G>T [p.Trp495Leu]).

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