Article
Case Report of Pediatric Channelopathies With UNC80 and KCNJ11 Mutations Having Abnormal Respiratory Control Treated With Positive Airway Pressure Therapy.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine - 15 Aug 2018
Hong Hanna, Kamerman-Kretzmer Rory, Kato Roberta, Rosser Tena, VanHirtum-Das Michele, Davidson Ward Sally L
Abstract excerpt
ABSTRACT: 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...
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