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No Pain, No Gain of Function: Epilepsy-Associated Variants in SCN2A Defy Classification.

作者信息

Clatot Jérôme, Goldberg Ethan M

机构信息

Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia Epilepsy NeuroGenetics Initiative, The Children's Hospital of Philadelphia.

Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia Epilepsy NeuroGenetics Initiative, The Children's Hospital of Philadelphia Department of Neurology, The Perelman School of Medicine at The University of Pennsylvania Department of Neuroscience, The Perelman School of Medicine at The University of Pennsylvania.

出版信息

Epilepsy Curr. 2024 Jan 17;24(2):126-128. doi: 10.1177/15357597231225565. eCollection 2024 Mar-Apr.

DOI:10.1177/15357597231225565
PMID:39280051
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11394415/
Abstract
摘要

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本文引用的文献

1
Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.癫痫相关 SCN2A（Nav1.2）变体表现出多样且复杂的功能特性。
J Gen Physiol. 2023 Oct 2;155(10). doi: 10.1085/jgp.202313375. Epub 2023 Aug 14.
2
Epilepsy and developmental disorders: Next generation sequencing in the clinic.癫痫与发育障碍：临床中的新一代测序技术。
Eur J Paediatr Neurol. 2020 Jan;24:15-23. doi: 10.1016/j.ejpn.2019.12.008. Epub 2019 Dec 18.
3
Resurgent and Gating Pore Currents Induced by Epilepsy Mutations.癫痫基因突变诱导的复发性和门控孔电流。
eNeuro. 2019 Oct 16;6(5). doi: 10.1523/ENEURO.0141-19.2019. Print 2019 Sep/Oct.
4
High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.高通量功能评估 KCNQ1 可解密意义不明的变异体。
Circ Genom Precis Med. 2018 Nov;11(11):e002345. doi: 10.1161/CIRCGEN.118.002345.
5
Voltage-gated sodium channels assemble and gate as dimers.电压门控钠离子通道作为二聚体组装和门控。
Nat Commun. 2017 Dec 12;8(1):2077. doi: 10.1038/s41467-017-02262-0.
6
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.SCN2A 相关疾病存在遗传和表型异质性，提示治疗意义。
Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054.
7
Opposing Effects on Na1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.对Na1.2功能的相反作用是自闭症谱系障碍或婴儿癫痫患者中观察到的SCN2A变体之间差异的基础。
Biol Psychiatry. 2017 Aug 1;82(3):224-232. doi: 10.1016/j.biopsych.2017.01.009. Epub 2017 Jan 27.