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AAN 2014:癫痫疾病诊断与治疗的总体趋势

2014-05-07 复旦大学附属华山医院 医学论坛网

本次AAN指出,在未来的癫痫诊断与治疗当中均有以基因作为基础的整体趋势。 Toronto大学的一项研究报道了染色体22q11.2位点缺失综合征,患者常出现反复的非诱发性癫痫发作、学习困难、先天发育畸形、腭咽肌功能缺陷、先天性心脏病与精神分裂症等,并且首次发现此类综合征患者存在特殊的结构异常即所谓的海马旋转不良(HIMAL),表现为单侧海马旋转不完全、内部结构显像模糊但海马体积及信号强度均在正常范

本次AAN指出,在未来的癫痫诊断与治疗当中均有以基因作为基础的整体趋势。

Toronto大学的一项研究报道了染色体22q11.2位点缺失综合征,患者常出现反复的非诱发性癫痫发作、学习困难、先天发育畸形、腭咽肌功能缺陷、先天性心脏病与精神分裂症等,并且首次发现此类综合征患者存在特殊的结构异常即所谓的海马旋转不良(HIMAL),表现为单侧海马旋转不完全、内部结构显像模糊但海马体积及信号强度均在正常范畴,结果提示出现这种HIMAL异常与22q11.2位点缺失相关。

Georgia州理工学院的一项研究总结了SCN1A相关癫痫综合征,包括多种癫痫发作表现及综合征类型,如单纯性热惊、GEFS+热性惊厥附加症、Dravet综合征、难治性儿童全面强直阵挛性发作等,发病机制可能均与SCN1A基因突变及人类NAV1.1钠通道蛋白结构及功能异常相关,这也为开发抗癫痫治疗策略提供了新靶点。

另有研究报道了KCNT1基因突变与ADNFLE(常染色体显性遗传夜间额叶癫痫)以及EIMFS(婴儿迁移性局灶性发作)两种综合征类型的发生相关,这种由KCNT1突变引起的癫痫发作表型可为奎尼丁治疗所逆转;另外一种SLC52A2基因杂合子突变、可能引起包括突发性斜视性眼阵挛、共济失调、波动性上肢远端无力和癫痫发作在内的临床综合征表现,部分患者由于出现呼吸功能衰竭而发生早期死亡,上述由SLC52A2基因错义突变引起的临床症状可能可以通过补充核黄素(VitB2)来获得改善。


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    2015-10-23 dean

    认识不断提高,深入。

    0

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    2014-08-11 cjyisheng

    认识不断提高,深入。

    0

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    2014-05-09 bluefate123

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