https://www.selleckchem.com/pr....oducts/gs-441524.htm
Abnormalities in the ( ) gene often lead to obesity, but are rarely associated with other conditions such as epilepsy and sleep disorder. Here, we present a case of a male obese child with a heterozygous variant in (c.494GA, p.Arg165Gln) inherited from his father, who presented with disordered sleep and abnormal facial movements. Examination through melatonin rhythm testing and electroencephalography led to a diagnosis of sleep disorder and epilepsy, as his melatonin rhythm was markedly distorted and the electroencephalography rev