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全面性癫癎伴热性惊厥附加症的分子遗传学研究进展

Study Advancement on Molecular and Genetic of Generalized Epilepsy with Febrile Seizures Plus
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摘要 全面性癫癎伴热性惊厥附加症(GEFS+)是一种常见的全面性癫癎综合征,该综合征由离子通道基因突变所引起。目前,发现与GEFS+相关的离子通道有2个,其中1个是电压门控钠通道,它编码SCN1B、SCN1A和SCN2A基因;另1个是配体门控γ-氨基丁酸(GABA)的受体,它编码GABRG2和GABRD基因。研究GEFS+的分子遗传学特点有助于癫癎的基因诊断及开发新的抗癫癎药物。
作者 席妹景 黄希顺 郑红
机构地区 郑州大学第一附属医院神经内科 郑州大学医学院细胞生物学遗传学教研室
出处 《实用儿科临床杂志》 CAS CSCD 北大核心 2007年第6期460-462,共3页 Journal of Applied Clinical Pediatrics
基金 国家自然科学基金项目资助(30370502)
关键词 全面性癫痫伴热性惊厥附加症 离子通道 突变
分类号 R720.597 [医药卫生—急诊医学]
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参考文献32

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二级参考文献25

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实用儿科临床杂志
2007年 第6期

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