Phenotype study of SCN2A gene related epilepsy
Objective: To summarize the phenotype of epileptic children with SCN2A mutations. Methods: Epileptic patients who were treated in the Pediatric Department of Peking University First Hospital from September 2006 to October 2017 and detected with SCN2A mutations by targeted next-generation sequencing...
Ausführliche Beschreibung
Bibliographische Detailangaben
Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 7 vom: 02. Juli, Seite 518-523
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1. Verfasser: |
Zeng, Q
(VerfasserIn) |
Weitere Verfasser: |
Zhang, Y H,
Yang, X L,
Zhang, J,
Liu, A J,
Liu, X Y,
Jiang, Y W,
Wu, X R |
Format: | Online-Aufsatz
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Sprache: | Chinese |
Veröffentlicht: |
2018
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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
Epilepsy
Genes, SCN2A
Infant
Infant newborn
Mutation
NAV1.2 Voltage-Gated Sodium Channel
SCN2A protein, human |