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Volume 14 No. 08
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Accepted Papers

Case Reports

Case Report of Pediatric Channelopathies With UNC80 and KCNJ11 Mutations Having Abnormal Respiratory Control Treated With Positive Airway Pressure Therapy

Hanna Hong, MD1; Rory Kamerman-Kretzmer, MD1; Roberta Kato, MD1; Tena Rosser, MD2; Michele VanHirtum-Das, MD2; Sally L. Davidson Ward, MD1
1Division of Pediatric Pulmonology and Sleep Medicine, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California; 2Division of Pediatric Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California

There have been no published reports of central respiratory control abnormalities in pediatric patients with UNC80 or KCNJ11 mutations which cause neurologic channelopathies. We describe an 8-year-old male with a pathogenic UNC80 mutation, intellectual disability, hypotonia and epilepsy with severe central sleep apnea (213.5 events/h) on polysomnography (PSG). We also describe a 20-month-old female with a KCNJ11 mutation, neonatal diabetes and developmental delay who had severe central sleep apnea (131.1 events/h). Both patients had irregular respiratory patterns during sleep and wakefulness and were placed on empiric bilevel positive airway pressure therapy, which was well tolerated with resolution of abnormal respiratory control and hypercapnia. Patients with UNC80 and KCNJ11 gene mutations may have abnormal respiratory rhythm during sleep and wakefulness, mirroring animal models. We recommend routine PSG tests and further investigation into the respiratory control of patients with pediatric channelopathies involved in chemoreceptor function or central integration of respiratory control.


Hong H, Kamerman-Kretzmer R, Kato R, Rosser T, VanHirtum-Das M, Davidson Ward SL. Case report of pediatric channelopathies with UNC80 and KCNJ11 mutations having abnormal respiratory control treated with positive airway pressure therapy. J Clin Sleep Med. 2018;14(8):1419–1425.

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