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

Kristina Maselli, Hyunbin Park, Margo S. Breilyn, Raanan Arens

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)2507-2513
Number of pages7
JournalJournal of Clinical Sleep Medicine
Volume18
Issue number10
DOIs
StatePublished - Oct 1 2022

Keywords

  • abnormal respiratory rhythm
  • central sleep apnea
  • IHPRF1
  • NALCN

ASJC Scopus subject areas

  • Medicine(all)

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