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  • Title: [Analysis of DCX gene mutation in a patient featuring X-linked subcortical laminar heterotopia and epilepsy].
    Author: Li W, Zhang MP, Hou ZJ, Zeng T, Tang B, Liu XR.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Feb; 30(1):74-8. PubMed ID: 23450485.
    Abstract:
    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 X-SCLH has been established, which may facilitate diagnosis and genetic counseling of patients featuring this disease.
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