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

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 cent...

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Bibliographic Details
Published in:Journal of clinical sleep medicine 2022-10, Vol.18 (10), p.2507-2513
Main Authors: Maselli, Kristina, Park, Hyunbin, Breilyn, Margo Sheck, Arens, Raanan
Format: Article
Language:English
Subjects:
Case Reports
Child
Child, Preschool
Humans
Ion Channels
Male
Membrane Proteins - genetics
Muscle Hypotonia - genetics
Sleep Apnea, Central - genetics
Sodium - metabolism
Sodium Channels - genetics
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Summary: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. Maselli K, Park H, Breilyn MS, Arens R. Severe central sleep apnea in a child with biallelic variants in . . 2022;18(10):2507-2513.
ISSN:1550-9389
1550-9397
DOI:10.5664/jcsm.10146