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Updated: Jun 30, 2025

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异位 HCN4 为mTOR病变的遗传谱提供了目标生物标志物

Matthew Coleman1, Paulo Pinares-Garcia1, Sarah E Stephenson1

  • 1From the Murdoch Children's Research Institute (M.C., S.E.S., W.S.L., D.K., K.B.H., R.J.L., P.J.L.); Department of Paediatrics (M.C., S.E.S., D.K., K.B.H., R.J.L., P.J.L.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (P.P.-G., C.A.R.), Parkville; Alfred Hospital (C.A.M.), Prahran; Department of Neurology (K.B.H., R.J.L.), The Royal Children's Hospital, Parkville; and Epilepsy Research Centre (C.A.R.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victory, Australia.

Neurology. Genetics
|March 18, 2024
PubMed
概括

超极化激活的循环核酸通道4 (HCN4) 在mTOR病变中升高,这是耐药性的原因. 这一发现表明HCN4是这些大脑形的潜在生物标志物和治疗标.

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