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 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.