Characterizing epilepsy phenotypes in in patients with intellectual disability, autism spectrum disorder, developmental delay, congenital abnormalities and chromosomes 15q11.2, 15q13.3 and 16p13.11 microdeletions.
Abstract number :
3.325
Submission category :
12. Genetics / 11A. Human Studies
Year :
2016
Submission ID :
195827
Source :
www.aesnet.org
Presentation date :
12/5/2016 12:00:00 AM
Published date :
Nov 21, 2016, 18:00 PM
Authors :
Fabio A Nascimento, Toronto Western Hospital, University of Toronto, Canada; Richard Wennberg, Toronto Western Hospital, University of Toronto; Danah Aljaafari, Toronto Western Hospital, University of Toronto; Abdullah Tahiri, Toronto Western Hospital, Un
Rationale: Microdeletions at 15q11.2, 15q13.3 and 16p13.11 have been consistently associated with a variety of epilepsy syndromes. However, most studies were performed using cohorts of patients with epilepsy. Methods: The objective of this study was to investigate the spectrum of epilepsy and EEG characteristics in patients with microdeletions at 15q11.2, 15q13.3 and 16p13.11 who were referred to chromosomal microarray for developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD), dysmorphism and/or congenital abnormalities. Data was collected through chart review. Results: We examined a cohort of 15,850 patients. Ninety microdeletions at 15q11.2, 28 at 15q13.3, and 22 at 16p13.11 were identified; phenotypic information was available in 20, 8 and 6 patients, respectively. Among these subjects, 12 had epilepsy: 15q11.2 (n=9/20;45%), 15q13.3 (n=2/8;25%), 16p13.11 (n=1/6;16.7%). Electroencephalographically, 15q11.2 patients had normal studies, localization-related or genetic generalized epilepsy (GGE), 15q13.3 patients had either GGE or symptomatic generalized epilepsy (SGE), and 16p13.11 had SGE. Conclusions: This study shows that microdeletions at 15q11.2, 15q13.3 and 16p13.11 lead to the same epilepsy phenotype both in patients from large epilepsy cohorts and in patients with a mixed phenotype (DD, ID, ASD, dysmorphism and congenital abnormalities). This work also reveals a new association between 15q13.3 microdeletion and SGE. Funding: None.
Genetics