Disordered breathing in a Pitt-Hopkins syndrome model involves Phox2b-expressing parafacial neurons and aberrant Nav1.8 expression

Abstract

Disordered breathing is a hallmark of Pitt-Hopkins syndrome (PTHS), yet little is known regarding how loss of Tcf4 (gene associated with PTHS) affects development and function of respiratory neurons. Here, the authors show that parafacial respiratory neurons are selectively disrupted in a mouse model of PTHS, and central Nav1.8 channels can be targeted to improve PTHS-associated behavior abnormalities.