Guillermo F. Spitzmaul

This study examines how KCNQ4 deficiency affects the development and organization of cochlear efferent synapses in mice, showing delayed maturation and structural changes in the medial olivocochlear system.

This study shows KCNQ4 deficiency causes cochlear dysfunction by disrupting protein localization, OHC organization, and cell survival, with noise not worsening hair cell damage in the model.

The paper reports genetic variants in LQTS-associated genes from Argentinian patients, identifying a novel exon deletion in KCNQ1 and correlating these with clinical diagnoses.

The paper investigates the role of KCNQ4-mediated M-current in regulating circadian rhythms in mesopontine cholinergic neurons and identifies its impact on neuronal synchronization and sleep-wakefulness cycles.

This study shows that inner hair cell and neuron degeneration occur later and faster than outer hair cell loss in Kcnq4-/- mice, mimicking DFNA2 hearing loss.