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Article

[Analysis of SYNE1 gene variant in an infant featuring epilepsy and developmental disorders].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2019

Zhang Xinli, Shen Xueping, Pan Liming, Qi Fengfeng, Shen Guosong

Abstract excerpt

OBJECTIVE: To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders. METHODS: Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing. RESULTS: The child developed generalized spasm at 3 months and...

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Identifiers

PMID: 31703138
DOI: 10.3760/cma.j.issn.1003-9406.2019.11.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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