具有SCN1A基因错义突变(R1596C)的遗传性GEFS+家系1例报道  

THE REPORT OF ONE GENETIC GEFS+ FAMILY WITH SCN1A GENE MISSENCE MUTATION(R1596C)

作　　者：于美娟[1] 陈俐[1] 高玫梅[1] 廖卫平[1] 

机构地区：[1]广州医学院第二附属医院,广东广州510260

出　　处：《现代医院》2009年第12期3-5,共3页Modern Hospitals

基　　金：广州医学院第二附属医院博士科研启动基金(编号:2007-5)

摘　　要：目的总结一个全面性癫痫伴热性惊厥附加症(generalized epilepsy with febrile seizures plus,GEFS+)家系的钠通道α1基因(voltage-gated sodium channelα1-subunit,SCN1A)及其临床特性。方法总结该家系患者的临床特征,应用变性高效液相色谱(denaturing high performance liquid chromatography,DHPLC)技术筛查SCN1A全部26个外显子,对发现有异常洗脱峰者再进行直接测序。结果该家系中三位患者均具有典型GEFS+的临床特点,她们在SCN1A基因第25号外显子发现有相同的杂合突变(c.4876C>T),并导致编码的氨基酸改变(R1596C)。结论GEFS+是呈常染色体显性方式遗传的一种癫痫综合征,可由SCN1A基因错义突变导致。Objective To study the SCN1A gene in one family diagnosed as GEFS ＋ and its characteristic of clinical manifestations. Methods The clinical features of this GEFS ＋ family were summarized. All 26 exons of SCN1A gene were screened with denaturing high performance liquid chromatography （ DHPLC）, and direct sequence analysis was performed on those with abnormal elution peak. Results In this family, three patients showed typical clinical features of GEFS ＋. The same heterozygous mutations on exon 25 which caused the related amino acid change were found among them （ c. 4876C 〉 T, R1596C）. Conclusion GEFS ＋ is one epilepsy syndrome with autosomal dominant inheritance, which can be caused by SCN1A missence mutation.

关 键 词：全面性癫痫伴热性惊厥附加症 色谱法 钠通道 

分 类 号：R587.1[医药卫生—内分泌] R742.1[医药卫生—内科学]