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Winkelmann, J. ; Schormair, B.

The genetics of restless legs syndrome.

In: Encyclopedia of Sleep and Circadian Rhythms: Volume 1-6, Second Edition. 2023. 591-600 (Encyclopedia of Sleep and Circadian Rhythms: Volume 1-6, Second Edition)

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Restless legs syndrome is a sleep-related movement disorder with an age-dependent prevalence of up to 10% in populations of European descent. Familial aggregation, twin studies and linkage studies in families with autosomal-dominant inheritance patterns were early indicators of a significant genetic contribution to disease susceptibility. Genome-wide association studies of common variants were the first studies to identify genetic risk factors for RLS. To date, 23 risk variants in 22 genomic risk loci have been discovered. The impact of these common small effect variants indicates that RLS is a complex disorder with genetic and environmental predisposing factors acting in concert.

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