The objective of this study is to estimate the prevalence of epilepsy and febrile seizures and their association with genotype, i.e., 15q11-q13 deletions, uniparental chromosome 15 disomy and other mutations, in the population with Prader-Willi syndrome (PWS).
A systematic search of Medline, Scopus, Web of Science and the Cochrane Library is conducted. Meta-analyses of the prevalence of epilepsy and febrile seizures and their association with genotype are performed. Fifteen studies are included. The prevalence of epilepsy is 0.11 (0.07, 0.15), similar to the prevalence of febrile seizures, with a prevalence of 0.09 (0.05, 0.13).
The prevalence of seizure disorders in Prader-Willi syndrome is higher than in the general population. In addition, deletions in 15q11-q13 may be associated with a higher risk of seizure disorders. Therefore, active screening for seizure disorders in PWS should improve the lives of these people. In addition, genotype could be used to stratify risk, even for epilepsy, although more studies or larger sample sizes are needed. Read the full article here.