GABRG2在全面性癫痫伴热性惊厥附加症中的研究

Genetic research of GABRG2 mutation of generalized epilepsy with febrile seizures

目的研究全面性癫痫伴热性惊厥附加症患者的GABRG2基因突变。方法对10个家系先症者的GABRG2基因进行体外扩增及测序分析。结果未发现相关突变。结论GABRG2基因突变在我国北方汉族人并不普遍。

Objective To find the relationship between mutation of GABRG2 and generalized epilepsy with febrile seizure plus. Methods We select probands of 10 families with GEFS＋, sequence the GABRG2 gene. Results Failure to find the mutations in GABRG2 gene. Conclusions The GABRG2 mutation is not common in Hans of northern China.