Role of Circadian Rhythm-Related Genes in Nocturnal Epilepsy

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Background: Epileptic seizures have been observed to have a multitude of cyclic patterns.In particular, several studies have investigated circadian rhythms (i.e., the biological changes that follow a 24hour cycle) in people with epilepsy.A few studies have identified genetic variants associated with nocturnal frontal lobe epilepsy, suggesting a genetic link between epilepsy and circadian rhythm-related genes.Methods: We created a panel of 40 circadian rhythm-related genes and analyzed the coding sequences of these genes in patients who reported predominant nighttime seizures (nocturnal epilepsy) and those without such seizures.We also collected and analyzed demographic data, clinical characteristics, and questionnaires related to sleep quality and other measures.Results: A total of 45 patients with epilepsy were enrolled, including 19 patients with nocturnal epilepsy.No variants were significantly associated with nocturnal epilepsy.In a ClinVar search, one of the patients with nocturnal epilepsy had a missense variant of uncertain significance in the cholinergic receptor nicotinic beta 2 subunit gene.Conclusions: Nocturnal frontal lobe epilepsy has recently been renamed sleep-related hypermotor epilepsy because patients exhibit non-nocturnal sleep-related seizures and seizures arise from regions other than the frontal lobe.These negative results indicate that the polygenic nature of genetic influences on nocturnal epilepsy or sleep-related mechanisms predominates, rather than circadian rhythmic-related pathobiology.

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