Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review
Abstract Background SYNGAP1 is a significant genetic risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy. De novo loss-of-function variants in this gene cause a neurodevelopmental disorder, for example, early-onset and drug-refractory seizures. We repor...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2023-02-01
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Series: | Acta Epileptologica |
Subjects: | |
Online Access: | https://doi.org/10.1186/s42494-022-00114-z |