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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Veröffentlicht in:	Journal of clinical sleep medicine 2022-10, Vol.18 (10), p.2507-2513
Hauptverfasser:	Maselli, Kristina, Park, Hyunbin, Breilyn, Margo Sheck, Arens, Raanan
Format:	Artikel
Sprache:	eng
Schlagworte:	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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container_title	Journal of clinical sleep medicine
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creator	Maselli, Kristina Park, Hyunbin Breilyn, Margo Sheck Arens, Raanan
description	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.
doi_str_mv	10.5664/jcsm.10146
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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
title	Severe central sleep apnea in a child with biallelic variants in NALCN
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