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Article

[Analysis of DCX gene mutation in a patient featuring X-linked subcortical laminar heterotopia and epilepsy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2013

Li Wen, Zhang Mei-pin, Hou Zhong-jun, Zeng Tao, Tang Bin, Liu Xiao-rong

Abstract excerpt

OBJECTIVE: To detect potential mutation of Doublecortin (DCX) gene in a patient featuring X-linked subcortical laminar heterotopia (X-SCLH) and epilepsy. METHODS: Mutation of the DCX gene was screened by PCR and direct sequencing. Pathogenicity of the mutation was analyzed with a PolyPhen-2 software. RESULTS: A de novo missense mutation c.971T>C (p.Phe324Ser) was discovered. CONCLUSION: A diagnostic method for...

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Identifiers

PMID: 23450485
DOI: 10.3760/cma.j.issn.1003-9406.2013.01.018

Genes

DCX

Variants

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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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