Williams syndrome and epilepsy: a retrospective analysis of 592 patients
Abstract number :
1.377
Submission category :
12. Genetics / 12A. Human Studies
Year :
2017
Submission ID :
345577
Source :
www.aesnet.org
Presentation date :
12/2/2017 5:02:24 PM
Published date :
Nov 20, 2017, 11:02 AM
Authors :
Hiltrud Muhle, Department for Neuropediatrics, University Hospital of Schleswig-Holstein (Kiel), Germany; Harry Nuss, Department for Neuropediatrics, University Hospital of Schleswig-Holstein (Kiel), Germany; Rainer Pankau, Department for Pediatrics, Osts
Rationale: Williams-Beuren-Syndrome (WBS) belongs to the group of contiguous gene syndromes (CGS) with a typical 1.6 Mb deletion in the 7q11.23 region. Leading symptoms are cardiovascular malformations, developmental delays, and specific dysmorphic features. The incidence of WBS is estimated to be 1 in 7,000. Data on epilepsy and seizures in WBS is rare. The objective of this study was to assess the frequency and types of seizures and epilepsy syndromes in WBS. In particular, we paid attention to MAGI2, a gene which was described to be associated with Infantile Spasms in WBS patients. Methods: A cohort of 592 patients with WBS was analyzed retrospectively. Data on clinical course, epilepsy and its therapy were reviewed and analyzed according to the classifications of the International League Against Epilepsy. Results: Six in 592 patients (1.0 %) had a confirmed diagnosis of epilepsy. 4 patients (0.7 %; 2 w, 2 m) were diagnosed with non-lesional Infantile Spasms (IS, West syndrome). Two patients developed focal epilepsies that were thought to be lesional due to hypoxic brain injury and head trauma, respectively.The age of onset in patients with West syndrome was between 3 ½ and 7 ½ months. All four patients with West syndrome eventually became seizure-free. Long-term antiepileptic therapy (ACTH, cortisone, nitrazepam, topiramate) was terminated at the age of 8, 15, 18 and 24 months, respectively. EEG features included typical hypsarrhythmia in three patients and multifocal discharges in one patient. Only one out of four patients carried a deletion that encompassed MAGI2 in addition to the typical WBS deletion. Conclusions: Compared to population data, the incidence of epilepsy is not increased in patients with WBS. West syndrome is the most frequent epilepsy syndrome in patients with WBS and usually has a good prognosis. There is no definite phenotype-genotype correlation with respect to MAGI2 and West syndrome. Funding: This study was supported by the medical faculty of the Christian-Albrechts-University of Kiel.
Genetics