Developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation : 4 cases report and literature review
Objective: To summarize the clinical phenotype of patients with developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation. Methods: The clinical data of 4 patients with epileptic encephalopathy caused by SMC1A gene truncating variation from August 2016 to June 2020 were...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 60(2022), 6 vom: 02. Juni, Seite 583-587
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| 1. Verfasser: |
Ye, Y Z
(VerfasserIn) |
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| Weitere Verfasser: |
Duan, J,
Hu, Z Q,
Cao, D Z,
Liao, J X,
Chen, L |
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| Format: | Online-Aufsatz
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| Sprache: | Chinese |
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| Veröffentlicht: |
2022
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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| Schlagworte: | Case Reports
Journal Article
Review |
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