Clinical and genetic characteristics of children with STXBP1 encephalopathy
Objective: To investigate the clinical and genetic characteristics of developmental and epileptic encephalopathy (DEE) caused by syntaxin-binding protein 1 (STXBP1) gene mutation. Methods: The clinical data, gene variation and treatment outcome of 15 children with STXBP1 encephalopathy admitted to C...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 58(2020), 6 vom: 02. Juni, Seite 493-498
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| 1. Verfasser: |
Cao, J J
(VerfasserIn) |
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| Weitere Verfasser: |
Ji, X N,
Mao, Y Y,
Zhang, P P,
Liu, W T,
Zhang, H Z,
Ding, N,
Chen, Q |
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| Format: | Online-Aufsatz
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| Sprache: | Chinese |
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| Veröffentlicht: |
2020
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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| Schlagworte: | Journal Article
Developmental delay
Epilepsy
Genes
Mutation
Munc18 Proteins
STXBP1 protein, human |
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