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Select item 107660911.

Familial KCNQ2 mutation: a psychiatric perspective

Anton Iftimovici, Angeline Charmet, Béatrice Desnous, Ana Ory, Richard Delorme, Charles Coutton, Françoise Devillard, Mathieu Milh, Anna Maruani

Psychiatr Genet. 2024 Feb; 34(1): 24–27. Published online 2023 Dec 13. doi: 10.1097/YPG.0000000000000360

PMCID:: PMC10766091

Abstract Article PDF–391K

Select item 105871512.

Ligand activation mechanisms of human KCNQ2 channel

Demin Ma, Yueming Zheng, Xiaoxiao Li, Xiaoyu Zhou, Zhenni Yang, Yan Zhang, Long Wang, Wenbo Zhang, Jiajia Fang, Guohua Zhao, Panpan Hou, Fajun Nan, Wei Yang, Nannan Su, Zhaobing Gao, Jiangtao Guo

Nat Commun. 2023; 14: 6632. Published online 2023 Oct 19. doi: 10.1038/s41467-023-42416-x

PMCID:: PMC10587151

Abstract Article PDF–3.1M

Select item 99713303.

Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants

Suphalak Chokvithaya, Natarin Caengprasath, Aayalida Buasong, Supavadee Jantasuwan, Kanokwan Santawong, Netchanok Leela-adisorn, Siraprapa Tongkobpetch, Chupong Ittiwut, Vitchayaporn Emarach Saengow, Wuttichart Kamolvisit, Ponghatai Boonsimma, Saknan Bongsebandhu-phubhakdi, Vorasuk Shotelersuk

Sci Rep. 2023; 13: 3328. Published online 2023 Feb 27. doi: 10.1038/s41598-023-29924-y

PMCID:: PMC9971330

Abstract Article PDF–2.8M

Select item 93641544.

A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early-onset epileptic encephalopathy in a female infant

Hai-Feng Liu, Ting-Yun Yuan, Jia-Wu Yang, Feng Li, Fan Wang, Hong-Min Fu

Mol Med Rep. 2022 Sep; 26(3): 282. Published online 2022 Jul 19. doi: 10.3892/mmr.2022.12797

PMCID:: PMC9364154

Abstract Article PDF–984K

Select item 93485765.

Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease

Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel

Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205

PMCID:: PMC9348576

Abstract Article PDF–3.0M

Select item 92626146.

A dual-activity topoisomerase complex regulates mRNA translation and turnover

Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang

Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538

PMCID:: PMC9262614

Abstract Article PDF–3.6M

Select item 92543407.

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van-Gils, Cyril Goizet, Marjolein H. Willemsen, Tjitske Kleefstra, Rikke S Møller, Allan Bayat, Orrin Devinsky, Tristan Sands, G. Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva Brilstra, Gaetan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen

eBioMedicine. 2022 Jul; 81: 104130. Published online 2022 Jun 30. doi: 10.1016/j.ebiom.2022.104130

PMCID:: PMC9254340

Abstract Article PDF–2.1M

Select item 91973978.

Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels

Michaela A Edmond, Andy Hinojo-Perez, Xiaoan Wu, Marta E Perez Rodriguez, Rene Barro-Soria

eLife. 2022; 11: e77030. Published online 2022 Jun 1. doi: 10.7554/eLife.77030

PMCID:: PMC9197397

Abstract Article PDF–4.8M

Select item 89831449.

High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji, Sneha Adusumilli, Nirvani Jairam, Nora Ghabra, Nishtha Joshi, Eryn Fitch, Katherine L. Helbig, Dianalee McKnight, Amanda S. Lindy, Fanggeng Zou, Ingo Helbig, Edward C. Cooper, Alfred L. George, Jr.

JCI Insight. 2022 Mar 8; 7(5): e156314. Published online 2022 Mar 8. doi: 10.1172/jci.insight.156314

PMCID:: PMC8983144

Abstract Article PDF–3.1M

Select item 890957110.

KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders

Inn-Chi Lee, Jiann-Jou Yang, Ying-Ming Liou, Swee-Hee Wong

Cells. 2022 Mar; 11(5): 894. Published online 2022 Mar 5. doi: 10.3390/cells11050894

PMCID:: PMC8909571

Abstract Article PDF–4.8M

Select item 861748611.

Posttranscriptional modulation of KCNQ2 gene expression by the miR-106b microRNA family

Kwon-Woo Kim, Keetae Kim, Hee-Jin Kim, Byeol-I Kim, Myungin Baek, Byung-Chang Suh

Proc Natl Acad Sci U S A. 2021 Nov 23; 118(47): e2110200118. Published online 2021 Nov 16. doi: 10.1073/pnas.2110200118

PMCID:: PMC8617486

Abstract Article PDF–2.4M

Select item 855507812.

Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder

Yan Xu, Ya-lan Dou, Xiang Chen, Xin-ran Dong, Xin-hua Wang, Bing-bing Wu, Guo-qiang Cheng, Yuan-feng Zhou

BMC Pediatr. 2021; 21: 477. Published online 2021 Oct 28. doi: 10.1186/s12887-021-02946-z

PMCID:: PMC8555078

Abstract Article PDF–1.6M

Select item 851702313.

PIP₂-dependent coupling of voltage sensor and pore domains in K_v7.2 channel

Shashank Pant, Jiaren Zhang, Eung Chang Kim, Kin Lam, Hee Jung Chung, Emad Tajkhorshid

Commun Biol. 2021; 4: 1189. Published online 2021 Oct 14. doi: 10.1038/s42003-021-02729-3

PMCID:: PMC8517023

Abstract Article PDF–3.4M

Select item 816503014.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 813898115.

An epilepsy-causing mutation leads to co-translational misfolding of the Kv7.2 channel

Janire Urrutia, Alejandra Aguado, Carolina Gomis-Perez, Arantza Muguruza-Montero, Oscar R. Ballesteros, Jiaren Zhang, Eider Nuñez, Covadonga Malo, Hee Jung Chung, Aritz Leonardo, Aitor Bergara, Alvaro Villarroel

BMC Biol. 2021; 19: 109. Published online 2021 May 21. doi: 10.1186/s12915-021-01040-1

PMCID:: PMC8138981

Abstract Article PDF–2.2M

Select item 795109916.

KCNQ2‐DEE: developmental or epileptic encephalopathy?

Anne T. Berg, Sonal Mahida, Annapurna Poduri

Ann Clin Transl Neurol. 2021 Mar; 8(3): 666–676. Published online 2021 Feb 22. doi: 10.1002/acn3.51316

PMCID:: PMC7951099

Abstract Article PDF–955K

Select item 791831617.

Capturing seizures in clinical trials of antiseizure medications for KCNQ2‐DEE

John J. Millichap, Cynthia L. Harden, Dennis J. Dlugos, Jacqueline A. French, Noam N. Butterfield, Celene Grayson, Ernesto Aycardi, Simon N. Pimstone

Epilepsia Open. 2021 Mar; 6(1): 38–44. Published online 2021 Jan 29. doi: 10.1002/epi4.12466

PMCID:: PMC7918316

Abstract Article PDF–148K

Select item 787165018.

Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

Juan L. García-Hernández, Luis A. Corchete, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Carmen Fons, Pedro A. Lazo

Hum Genomics. 2021; 15: 11. Published online 2021 Feb 8. doi: 10.1186/s40246-021-00309-4

PMCID:: PMC7871650

Abstract Article PDF–782K

Select item 741514019.

Heteromeric Kv7.2 current changes caused by loss-of-function of KCNQ2 mutations are correlated with long-term neurodevelopmental outcomes

Inn-Chi Lee, Jiann-Jou Yang, Swee-Hee Wong, Ying-Ming Liou, Shuan-Yow Li

Sci Rep. 2020; 10: 13375. Published online 2020 Aug 7. doi: 10.1038/s41598-020-70212-w

PMCID:: PMC7415140

Abstract Article PDF–4.2M

Select item 707595820.

Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy

Jiaren Zhang, Eung Chang Kim, Congcong Chen, Erik Procko, Shashank Pant, Kin Lam, Jaimin Patel, Rebecca Choi, Mary Hong, Dhruv Joshi, Eric Bolton, Emad Tajkhorshid, Hee Jung Chung

Sci Rep. 2020; 10: 4756. Published online 2020 Mar 16. doi: 10.1038/s41598-020-61697-6

PMCID:: PMC7075958

Abstract Article PDF–8.9M

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