Developmental progression of respiratory dysfunction in a mouse model of Dravet syndrome.

ABSTRACT: Dravet syndrome (DS) is an early-onset epilepsy caused by loss-of-function mutations in the SCN1A gene, which encodes Nav1.1 channels that preferentially regulate activity of inhibitory neurons early in development. DS is associated with a high incidence of sudden unexpected death in epilepsy (SUDEP) by a mechanism that may involve respiratory failure. Evidence also shows that loss of Scn1a impaired activity of neurons in the retrotrapezoid nucleus (RTN) that regulate breathing in response to CO2/H+, suggesting breathing problems precede seizures and serve as a biomarker of SUDEP. Consistent with this, we showed that Scn1a+/- mice exhibited a blunted ventilatory response to CO2/H+ prior to overt seizure activity that worsened with disease progression. Later in development, some Scn1a+/- mi

SUBMITTER: Milla BM 

PROVIDER: S-EPMC12581664 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature