Several cases of autism spectrum disorder have been linked to mutations in the SHANK3 gene. Haploinsufficiency of the SHANK3 gene contributes to Phelan-McDermid syndrome, which often presents an autism spectrum disorder phenotype along with moderate to severe intellectual disability. A SHANK3 gene deletion in mice results in elevated excitation of cortical pyramidal neurons that alters signaling to other brain areas. Serotonin 1A receptors are highly expressed on layer 2 cortical neurons and are known to have inhibitory actions. Serotonin 1A receptor agonist treatment in autistic cases with SHANK3 mutations and possibly other cases may restore excitatory and inhibitory balance that attenuates core symptoms.

中文翻译：

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坦度螺酮是一种部分 5-HT1A 受体激动剂，全身给药或前扣带回给药可减轻 Shank3B 小鼠的重复行为。

一些自闭症谱系障碍病例与SHANK3基因的突变有关。SHANK3基因的单倍体不足导致 Phelan-McDermid 综合征，该综合征通常表现为自闭症谱系障碍表型以及中度至重度智力障碍。甲SHANK3基因缺失小鼠中的结果在皮层锥体神经元的激发升高该涂改信令其他脑区。血清素 1A 受体在第 2 层皮质神经元上高度表达，并且已知具有抑制作用。具有SHANK3突变的自闭症病例和可能的其他病例中的血清素 1A 受体激动剂治疗可能会恢复兴奋性和抑制性平衡，从而减轻核心症状。