CTNND2 gene mutations in a familial cortical myoclonic tremor with epilepsy family / 中风与神经疾病杂志
Journal of Apoplexy and Nervous Diseases
; (12): 28-30, 2020.
Artículo
en Chino
| WPRIM (Pacífico Occidental)
| ID: wpr-1039818
Biblioteca responsable:
WPRO
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.
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Base de datos:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Journal of Apoplexy and Nervous Diseases
Año:
2020
Tipo del documento:
Artículo