Year: 2025
Type: article
Study design: Case Report
Abstract: Objectives: -negative CCHS. Methods: We conducted a 10-year follow-up, including a clinical evaluation, polysomnography, brain MRI, analyses of blood and CSF, electrodiagnostic testing, and comprehensive genetic analyses including trio-whole exome sequencing (trio-WES). Results: Ter133), likely resulting in a complete loss of DBX1. Additional symptoms included central hypotonia, global developmental delay, seizures, and marked autoaggressive behavior. Discussion: gene. Surprisingly, over time, our patient gradually achieved the capability of ventilator-independent respiration, although with an irregular rhythm and only during the wake state. These findings suggest that DBX1-deficient individuals are able to install alternative neuronal circuits that maintain inspiratory drive during the wake state.
Source: Neurology Genetics
Authors: Amelie T. van der Ven, Maja Hempel, Claas Kruse, Martin Blohm, Benjamin Grolle, Christian Kubisch, Davor Lessel
Language: English
Subfield: Endocrine and Autonomic Systems
Field: Neuroscience
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,300
OpenAlex ID: W4414401756