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[Analysis of SCN1A gene variants among patients with Dravet syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2021

Li Li, Zhu Dandan

Abstract excerpt

OBJECTIVE: To analyze the clinical features and genetic variants in two patients with Dravet syndrome (DS). METHODS: Peripheral blood samples of the children and their parents were collected for the extraction of genomic DNA and high-throughput sequencing. Suspected variants were confirmed by Sanger sequencing. RESULTS: By high-throughput sequencing, the two children were found to respectively harbor a c.2135delC...

Topics

Epilepsies, Myoclonic
Genomics
Humans
Infant
Mutation
NAV1.1 Voltage-Gated Sodium Channel
Pedigree
Spasms, Infantile

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 33565071
DOI: 10.3760/cma.j.cn511374-20200120-00041

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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