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N-甲基-D-天冬氨酸受体GRIN2A基因变异与癫痫研究进展

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N-甲基-D-天冬氨酸受体GRIN2A基因变异与癫痫研究进展

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_wanfang_journals_xdsjjbzz202302003

N-甲基-D-天冬氨酸受体GRIN2A基因变异与癫痫研究进展

About this item

Full title

N-甲基-D-天冬氨酸受体GRIN2A基因变异与癫痫研究进展

Author / Creator

唐薇婷 and 肖波

Publisher

410008 长沙,中南大学湘雅医院神经内科

Journal title

中国现代神经疾病杂志, 2023-02, Vol.23 (2), p.89-93

Language

Chinese

Formats

Articles

Publication information

Publisher

410008 长沙,中南大学湘雅医院神经内科

More information

Scope and Contents

Contents

随着基因检测技术的发展,癫痫相关致病基因相继被发现,编码神经递质N-甲基-D-天冬氨酸受体(NMDAR)的GRIN2A基因变异与癫痫的发生密切相关,该基因变异导致的临床表型复杂多样,药物治疗效果不同.本文综述GRIN2A基因变异致NMDAR结构和功能改变与癫痫临床表型的关系,以为癫痫精准诊断与治疗提供依据.

Alternative Titles

Full title

N-甲基-D-天冬氨酸受体GRIN2A基因变异与癫痫研究进展

Authors, Artists and Contributors

Author / Creator

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Primary Identifiers

Record Identifier

TN_cdi_wanfang_journals_xdsjjbzz202302003

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_wanfang_journals_xdsjjbzz202302003

Other Identifiers

ISSN

1672-6731

DOI

10.3969/j.issn.1672-6731.2023.02.003

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