Fig. 1: Trial design and ADNP allele-specific expression. | Translational Psychiatry

Fig. 1: Trial design and ADNP allele-specific expression.

From: Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome

Fig. 1

A Clinical trial workflow and data collected across the time course. A total of 10 pediatric participants were enrolled in the trial and were screened within 28 days of the trial onset. Post-infusion represents the same day as intravenous ketamine treatment (0.5 mg/kg, over 40 min), while Day 1 is the following day. B Pathogenic variants represented by the study cohort and their locations along the ADNP gene locus. Two patients had recurrent p.Tyr719* mutations. ADNP RNA-seq read pileups were queried for each mutation (57.66 ± 22.35 read coverage). The percent of ADNP reference (healthy) allele at baseline (or at 4 weeks, if baseline measurements were not available) are in gray, while the percent of ADNP mutant allele is in red.

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