Article

The homozygous long variant of 5-HTT gene in congenital central hypoventilation syndrome is associated with a modified resting CO2 set point

2026-08-12

Abstract excerpt

Abstract Background Central respiratory chemoreceptors are not definitively identified, but the retrotrapezoid nucleus is the main center whose absence is characteristic of congenital central hypoventilation syndrome (CCHS). Intense chemosensory stimuli activate circuits that are wake- or attention-promoting, such as the raphe, which modulates chemoreflexes. The main objective of our study was to assess whether re...

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Literature Corpus work: a240bd03-8f85-5d2e-93af-c1b29ab35301
DOI: 10.1186/s13023-026-04544-7

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