CTNND2 gene mutations in a familial cortical myoclonic tremor with epilepsy family / 中风与神经疾病杂志

ABSTRACT

@#Objective　We examined mutations of Catenin Delta 2 gene（CTNND2），as the candidate gene in a Familial cortical myoclonic tremor with epilepsy（FCMTE） family. Methods　Using PCR（polymerase chain reaction，PCR） and PCR product sequencing method，we detected mutations in CTNND2 gene for members of the sick including the proband. Results　In seven patients of the family，CTNND2 gene mutation was analyzed by direct sequencing. No mutation was found in CTNND2 gene. Conclusion　CTNND2 mutations in the familial cortical myoclonic tremor with epilepsy family has not been discovered.