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Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies

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 expand k...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Sun, Xiaomin, Zhong, Xuefei, Li, Tingsong
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732301/
https://ncbi.nlm.nih.gov/pubmed/31397114
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.926
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