ReviewRespiratory physiology & neurobiology2010
Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation.
Review in Respiratory physiology & neurobiology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 78 citations in OpenAlex.
- Retrotrapezoid nucleus chemoreception: mechanisms of function and contributions to disordered breathing in disease.Trends in neurosciences · 2025Review
- The cerebellum in epilepsy.Epilepsia · 2025Review
- Neuroanatomical and neurochemical organization of brainstem and forebrain circuits involved in breathing regulation.Journal of neurophysiology · 2025Review
- The Enigma That Is ROHHAD Syndrome: Challenges and Future Strategies.Brain sciences · 2024Review
- Loss-of-function of chemoreceptor neurons in the retrotrapezoid nucleus: What have we learned from it?Respiratory physiology & neurobiology · 2024Article
- Alternative low-populated conformations prompt phase transitions in polyalanine repeat expansions.Nature communications · 2024Article
- [Two children with late-onset congenital central hypoventilation syndrome].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2023Article
- Hypoxic White Matter Injury and Recovery After Reoxygenation in Adult Mice: Magnetic Resonance Imaging Findings and Histological Studies.Cellular and molecular neurobiology · 2023Article
- Criteria for central respiratory chemoreceptors: experimental evidence supporting current candidate cell groups.Frontiers in physiology · 2023Review
- Article
- Lesions causing central sleep apnea localize to one common brain network.Frontiers in neuroanatomy · 2022Article
- Neuromodulatory Support for Breathing and Cardiovascular Action During Development.Frontiers in pediatrics · 2021Review
- Distinct Patterns of Brain Metabolism in Patients at Risk of Sudden Unexpected Death in Epilepsy.Frontiers in neurology · 2021Article
- ROHHAD (Rapid-onset Obesity with Hypoventilation, Hypothalamic Dysfunction, Autonomic Dysregulation) Syndrome-What Every Pediatrician Should Know About the Etiopathogenesis, Diagnosis and Treatment: A Review.International journal of general medicine · 2021Review
- Long Term Non-invasive Ventilation in Children With Central Hypoventilation.Frontiers in pediatrics · 2020Review
- Combined fractional anisotropy and subcortical volumetric abnormalities in healthy immigrants to high altitude: A longitudinal study.Human brain mapping · 2019Article
- More than meets the eye: infant presenting with hypoxic ischaemic encephalopathy.BMJ case reports · 2018Article
- Inhalational Anesthetics Induce Neuronal Protein Aggregation and Affect ER Trafficking.Scientific reports · 2018Article
- Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a NovelJournal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2017Article
- Defining the transcriptomic landscape of the developing enteric nervous system and its cellular environment.BMC genomics · 2017Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
The paired-like homeobox 2B gene (PHOX2B) is the disease-defining gene for congenital central hypoventilation syndrome (CCHS). Individuals with CCHS typically present in the newborn period with alveolar hypoventilation during sleep and often during wakefulness, altered respiratory control including reduced or absent ventilatory responses to hypercarbia and hypoxemia, and autonomic nervous system (ANS) dysregulation; however, a subset of individuals present well into adulthood. Thermoregulation is altered and perception of shortness of breath is absent, but voluntary breathing is retained. Structural and functional magnetic resonance imaging (MRI) and limited post-mortem studies in subjects with CCHS reveal abnormalities in both forebrain and brainstem. MRI changes appear in the hypothalamus (responsible for thermal drive to breathing), posterior thalamus and midbrain (mediating O(2) and oscillatory motor patterns), caudal raphé and locus coeruleus (regulating serotonergic and noradrenergic systems), the lateral medulla, parabrachial pons, and cerebellum (coordinating chemoreceptor and somatic afferent activity with breathing), and insular and cingulate cortices (mediating shortness of breath perception). Structural and functional alterations in these sites may result from PHOX2B mutations or be secondary to hypoxia/perfusion alterations from suboptimal management/compliance. The study of CCHS, with collaboration between physician-scientists and basic scientists, offers a rare opportunity to investigate control of breathing within the complex physiological network of the ANS.
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