Disordered breathing in a mouse model of Dravet syndrome.

ABSTRACT: Dravet syndrome (DS) is a form of epilepsy with a high incidence of sudden unexpected death in epilepsy (SUDEP). Respiratory failure is a leading cause of SUDEP, and DS patients' frequently exhibit disordered breathing. Despite this, mechanisms underlying respiratory dysfunction in DS are unknown. We found that mice expressing a DS-associated Scn1a missense mutation (A1783V) conditionally in inhibitory neurons (Slc32a1^cre/+::Scn1a^{A1783V fl/+}; defined as Scn1a^ΔE26) exhibit spontaneous seizures, die prematurely and present a respiratory phenotype including hypoventilation, apnea, and a diminished ventilatory response to CO₂. At the cellular level in the retrotrapezoid nucleus (RTN), we found inhibitory neurons expressing

SUBMITTER: Kuo FS 

PROVIDER: S-EPMC6506208 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature