Early infantile epileptic encephalopathy caused by PACS2 gene variation : three cases report and literature review
Objective: To explore the clinical features of three early-onset infantile epileptic encephalopathy (EIEE) patients with variations in phosphofurin acidic cluster sorting protein 2 (PACS2) gene and to review related literature. Methods: The clinical data and genetic features of three early infantile...
Ausführliche Beschreibung
Bibliographische Detailangaben
Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 59(2021), 7 vom: 02. Juli, Seite 594-599
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1. Verfasser: |
Wu, M J
(VerfasserIn) |
Weitere Verfasser: |
Hu, C H,
Ma, J H,
Hu, J S,
Liu, Z S,
Sun, D |
Format: | Online-Aufsatz
|
Sprache: | Chinese |
Veröffentlicht: |
2021
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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
PACS2 protein, human
Vesicular Transport Proteins |