Fig. 1

Augmented local field potential activity in 16pdel syndrome differentiated neuronal culture

(A) Local Field Potential (LFP) summary analyzed by log2 fold change between control and 16pdel patient differentiated neurons. MEA activity was recorded over 30 min starting in media, followed by physiological and high potassium chloride (KCl) solution. Data was summarized and pooled from 3 experiments. Control n = 9 (media), n = 17 (Physiological Solution), n = 13 (High KCl Solution). 16pdel n = 35 (media), n = 76 (Physiological Solution), n = 35 (High KCl Solution). Violin plot group analysis: Control - 16pdel two-way ANOVA. ∗p ≤ 0.05. Technical experimental replicates n = 3.

(B) Increased sex specific activity in female 16pdel probands drives overall increased LFPs, compared to unaffected controls. Media unaffected neurons (Control) male (♂) n = 3, Control female (♀) n = 6,16pdel neurons (Proband) ♂ n = 21, Proband ♀ n = 14, Physiological Solution Control ♂ n = 7, Control ♀ n = 10, Proband ♂ n = 38, Proband ♀ n = 38, High KCl Solution Control ♂ n = 6, Control ♀ n = 7, Proband ♂ n = 18, Proband ♀ n = 17. Violin plot analysis: male versus female ttest. ∗∗∗∗p ≤ 0.0001.

(C) Increased sex specific female electrogenic burst frequency analyzed by log2 fold change between 16pdel male and female Media ♂ n = 21, ♀ n = 14, Physiological Solution ♂ n = 38, ♀ n = 38, High KCl Solution ♂ = 18, ♀ n = 17. Violin plot analysis: male versus female ttest. ∗p ≤ 0.05. Technical experimental replicates n = 3.