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Review
. 2022 Oct 1;18(10):2507-2513.
doi: 10.5664/jcsm.10146.

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

Kristina Maselli  1 , Hyunbin Park  2 , Margo Sheck Breilyn  3 , Raanan Arens  2
Affiliations
Review

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

Kristina Maselli et al. J Clin Sleep Med. .

Abstract

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 NALCN. A review of the literature illustrates 17 additional children with biallelic variants in the NALCN 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 NALCN. J Clin Sleep Med. 2022;18(10):2507-2513.

Keywords: IHPRF1; NALCN; abnormal respiratory rhythm; central sleep apnea.

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Conflict of interest statement

The authors have seen and approved of the final version of this manuscript. The authors report no conflicts of interest.

Figures

Figure 1
Figure 1. Excerpt from patient’s initial polysomnography.
Evidence of central apneas with arousals. At the bottom, a hypnogram shows fragmented sleep and variations in oxygen and carbon dioxide levels.
Figure 2
Figure 2. 38-month-old male with NALCN variation and central sleep apnea.
NALCN = sodium leak channel, nonselective.
See this image and copyright information in PMC

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