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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Autors principals:	Xiaomin Sun, Xuefei Zhong, Tingsong Li
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2019-09-01
Col·lecció:	Molecular Genetics & Genomic Medicine
Matèries:	compound heterozygous mutations developmental and epileptic encephalopathy seizure threshold 2 gene sequencing whole‐exome
Accés en línia:	https://doi.org/10.1002/mgg3.926
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