Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy

OBJECTIVE: STXBP1 mutations are associated with early onset epileptic encephalopathy (EOEE). Our aim was to explore the phenotype spectrum, clinical treatment and prognosis of STXBP1-related encephalopathy (STXBP1-E). METHODS: Clinical and genetic data were collected from 10 patients with STXBP1 mut...

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Detalles Bibliográficos
Autores principales: Dong, Meng, Zhang, Tianyu, Hu, Ruimei, Li, Meng, Wang, Guan, Liu, Xinjie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9695404/
https://www.ncbi.nlm.nih.gov/pubmed/36440324
http://dx.doi.org/10.3389/fped.2022.1010886

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9695404/
https://www.ncbi.nlm.nih.gov/pubmed/36440324
http://dx.doi.org/10.3389/fped.2022.1010886

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