Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation

Pathogenic variants in Paired-Like Homeobox 2B (PHOX2B) gene cause congenital central hypoventilation syndrome (CCHS), a rare disorder of the nervous system characterized by absent or reduced ventilatory response to hypoxia and hypercapnia. The focus of management in CCHS is optimizing ventilation....

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Bibliographic Details
Published in:J Clin Sleep Med
Main Authors: Schirwani, Schaida, Pysden, Karen, Chetcuti, Philip, Blyth, Moira
Format: Artigo
Language:Inglês
Published: American Academy of Sleep Medicine 2017
Subjects:
Case Reports
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5656487/
https://ncbi.nlm.nih.gov/pubmed/28992836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5664/jcsm.6818
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