Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies

Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies

Abstract Background The seizure threshold 2 (SZT2) gene encodes a large, highly conserved protein that lowers seizure threshold and may also enhance epileptogenesis. In this study, three patients diagnosed with SZT2‐related developmental and epileptic encephalopathies (DEEs) were reviewed aiming to...

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Bibliographic Details
Main Authors: Xiaomin Sun, Xuefei Zhong, Tingsong Li
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
compound heterozygous mutations
developmental and epileptic encephalopathy
seizure threshold 2 gene
sequencing
whole‐exome
Online Access:https://doi.org/10.1002/mgg3.926

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