Article
Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!
Biochemical and biophysical research communications - 9 Apr 2010
Marlin Sandrine, Feldmann Delphine, Nguyen Yann, Rouillon Isabelle, Loundon Natalie, Jonard Laurence, Bonnet Crystel, Couderc Remy, Garabedian Eréa Noel, Petit Christine, Denoyelle Françoise
Abstract excerpt
Transient deafness associated with an increase in core body temperature is a rare and puzzling disorder. Temperature-dependent deafness has been previously observed in patients suffering from auditory neuropathy. Auditory neuropathy is a clinical entity of sensorineural deafness characterized by absent auditory brainstem response and normal otoacoustic emissions. Mutations in OTOF, which encodes otoferlin, have...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
