Severe central sleep apnea in a child with biallelic variants in .

Kristina Maselli, Hyunbin Park, Margo Sheck Breilyn, Raanan Arens

Journal: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2022;18(10):2507-2513

PMID: 35808948

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Abstract

UNLABELLED

The sodium leak channel, nonselective (NALCN), is necessary for the proper function of the neurons that play an important role in the sleep-wake cycle and regulation of breathing patterns during wakefulness and sleep. We report a 38-month-old male with developmental delay, hypotonia, and severe central sleep apnea with periodic breathing requiring noninvasive ventilation during sleep, who was found to have novel biallelic pathogenic variants in . A review of the literature illustrates 17 additional children with biallelic variants in the gene. The clinical and sleep manifestations of these children are discussed.

CITATION

Maselli K, Park H, Breilyn MS, Arens R. Severe central sleep apnea in a child with biallelic variants in . . 2022;18(10):2507-2513.

Address: Sleep Wake Disorders Center, Department of Neurology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York.; Division of Pediatric Respiratory and Sleep Medicine, Department of Pediatrics, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York.; Genetics and Genomics, Department of Pediatrics, The Mount Sinai Hospital, New York, New York.

DOI: 10.5664/jcsm.10146

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MeSH Terms: Child, Child, Preschool, Humans, Ion Channels, Male, Membrane Proteins, Muscle Hypotonia, Sleep Apnea, Central, Sodium, Sodium Channels