| Literature DB >> 23824702 |
Eri Takeshita1, Nobuyuki Murakami, Ryoichi Sakuta, Toshiro Nagai.
Abstract
Prader-Willi syndrome (PWS) has not been widely regarded as a disorder with a risk factor for seizures. We retrospectively investigated the frequency and characteristics of seizures and examined genotype-phenotype correlations with respect to seizures in PWS. We analyzed 142 patients with PWS and identified 31 (22%) with seizures. The most common seizure type was febrile convulsion (12%, 17/142). Epilepsy occurred in 6% of the patients in our cohort (9/142). The frequencies of febrile seizure and epilepsy in PWS were higher than those in the general population. Our study suggested that the frequency of seizures was not associated with genotypes of PWS (P = 0.35). In our study patients with PWS, 68% of the patients with seizures experienced initial episodes before they were 2 years old, and the seizures were relatively easier to manage.Entities:
Keywords: Prader-Willi syndrome; deletion; epilepsy; seizure; uniparental disomy
Mesh:
Year: 2013 PMID: 23824702 DOI: 10.1002/ajmg.a.36015
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802