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Updated: Jun 5, 2025

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ILAE遗传素养系列:焦点皮层发育不良症

Emma Macdonald-Laurs1,2,3, Richard J Leventer1,2,3,

  • 1Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.

Epileptic disorders : international epilepsy journal with videotape
|December 6, 2024
PubMed
概括

焦点皮层发育不良 (FCD) 导致难以治疗的. 基因检测揭示了FCD类型II的mTOR通路变异和MOGHE的SLC35A2基因作用,指导治疗.

关键词:
在 GATOR1 的位置上.的底部发育不良症这是家族焦点.焦点遗传学 焦点遗传学在mTOROR中使用mTOR.

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