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variants associated with epilepsies and/or febrile seizures and the individualized genotype-phenotype correlation.

作者信息

Luo Junxia, Li Yun, Lv Yong, Li Xin, Qin Bing, Cheng Chuanfang, Liu Xiaorong, Liao Weiping, Wang Jie, Gao Zaifen

机构信息

Department of Epilepsy Center, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China.

Department of Epilepsy Center, Jinan Children's Hospital, Jinan, Shandong 250022, China.

出版信息

Genes Dis. 2023 Jul 13;11(3):101032. doi: 10.1016/j.gendis.2023.06.006. eCollection 2024 May.

DOI:10.1016/j.gendis.2023.06.006
PMID:38292201
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10825275/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3a3/10825275/e33a40dbff1c/figs1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3a3/10825275/68a4a4db4f51/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3a3/10825275/e33a40dbff1c/figs1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3a3/10825275/68a4a4db4f51/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3a3/10825275/e33a40dbff1c/figs1.jpg

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本文引用的文献

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DAPLE and MPDZ bind to each other and cooperate to promote apical cell constriction.DAPLE 和 MPDZ 相互结合并协同作用以促进顶端细胞缢缩。
Mol Biol Cell. 2019 Jul 22;30(16):1900-1910. doi: 10.1091/mbc.E19-02-0091. Epub 2019 Jul 3.
2
Epilepsy-associated genes.癫痫相关基因
Seizure. 2017 Jan;44:11-20. doi: 10.1016/j.seizure.2016.11.030. Epub 2016 Dec 6.
3
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.与SYNGAP1相关的智力障碍和癫痫的遗传及神经发育谱系
J Med Genet. 2016 Aug;53(8):511-22. doi: 10.1136/jmedgenet-2015-103451. Epub 2016 Mar 17.
4
SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation.突触结合蛋白GAP-多PDZ结构域蛋白1-钙/钙调蛋白依赖性蛋白激酶II突触复合物调节p38丝裂原活化蛋白激酶活性以及N-甲基-D-天冬氨酸受体依赖性突触α-氨基-3-羟基-5-甲基-4-异恶唑丙酸受体增强。
Neuron. 2004 Aug 19;43(4):563-74. doi: 10.1016/j.neuron.2004.08.003.
5
Interaction of serotonin 5-hydroxytryptamine type 2C receptors with PDZ10 of the multi-PDZ domain protein MUPP1.血清素5-羟色胺2C型受体与多PDZ结构域蛋白MUPP1的PDZ10之间的相互作用。
J Biol Chem. 2001 Apr 20;276(16):12974-82. doi: 10.1074/jbc.M008089200. Epub 2001 Jan 9.