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

J Clin Sleep Med. 2022 Oct 1;18(10):2507-2513. doi: 10.5664/jcsm.10146.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child
  • Child, Preschool
  • Humans
  • Ion Channels
  • Male
  • Membrane Proteins / genetics
  • Muscle Hypotonia / genetics
  • Sleep Apnea, Central* / genetics
  • Sodium / metabolism
  • Sodium Channels / genetics

Substances

  • Ion Channels
  • Membrane Proteins
  • NALCN protein, human
  • Sodium Channels
  • Sodium