Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy
ObjectiveSTXBP1 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).MethodsClinical and genetic data were collected from 10 patients with STXBP1 mutation...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-11-01
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| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.1010886/full |