Bi-allelic variants in HCRT cause autosomal recessive narcolepsy.

doi:10.1007/s10048-024-00744-0

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Bi-allelic variants in HCRT cause autosomal recessive narcolepsy.

Neurogenetics - 1 Apr 2024

Hakami Wejdan, Thabet Farah, Alhashem Amal, Alghamdi Abdulaziz, Alshahwan Saad, Alkuraya Fowzan S, Tabarki Brahim

Abstract excerpt

Narcolepsy with cataplexy is a complex disease with both genetic and environmental risk factors. To gain further insight into the homozygous HCRT-related narcolepsy, we present a case series of five patients from two consanguineous families, each harboring a novel homozygous variant of HCRT c.17_18del. All affected individuals exhibited severe cataplexy accompanied by narcolepsy symptoms during infancy....

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