Hostname: page-component-cb9f654ff-pvkqz Total loading time: 0 Render date: 2025-08-28T07:33:30.988Z Has data issue: false hasContentIssue false

P.052 SYNGAP-1 developmental and epileptic encephalopathy: utility of corpus callosotomy and neuromodulation

Published online by Cambridge University Press:  10 July 2025

SM DeGasperis
Affiliation:
(Hamilton)*
R Whitney
Affiliation:
(Hamilton)
Rights & Permissions [Opens in a new window]

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

Background: Pathogenic variants in SYNGAP1causedevelopmental and epileptic encephalopathy (DEE) and intellectual disability. Seizures are medically refractory and there is limited evidence on the use of corpus callosotomy (CC) and vagal nerve stimulation (VNS). Methods: A retrospective study was completed examining the effectiveness of VNS and CC in children with SYNGAP1-DEE using the SynGAP Research Database and an additional child followed at our centre. Results: Fifteen patients from the SynGAP Database were included. Of those who had VNS (n=11), 7 children had an >50% reduction in seizure frequency (n=7/11, 64%), 2 had worsening (n=2/11, 18%), 1 had no change (n=1/11, 9%), and 1 had an unknown response (n=1/11, 9%). Two children had CC only, 1 had complete seizure freedom, and 1 had a >50% reduction. Two children underwent VNS and CC, 1 had a >50% reduction in seizure frequency and the other had no change. One child followed at our centre experienced a sustained >80% reduction in seizure frequency following CC (i.e., after 1.5 years). Conclusions: We provide the first in-depth description of the response to VNS and CC in children with SYNGAP1-DEE, and provide insight into the use of of palliative surgical procedures in this population.

Information

Type
Abstracts
Copyright
© The Author(s), 2025. Published by Cambridge University Press on behalf of Canadian Neurological Sciences Federation