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Chunk #21 — Results/Discussion

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Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
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Furthermore, we find that different patients showed candidate mutations in different ASD candidate genes, confirming that recessive autism genes are likely to be highly heterogeneous. On the other hand, several of the genes we identified represent new neuronal depolarization-dependent genes, further supporting a role of defective synaptic transmission and neuronal plasticity in the pathogenesis of ASD.