U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 79

1.
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
AbstractArticlePDF–391K
2.
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
AbstractArticlePDF–3.1M
3.
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
AbstractArticlePDF–2.8M
4.
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
AbstractArticlePDF–984K
5.
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
AbstractArticlePDF–2.1M
6.
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
AbstractArticlePDF–4.8M
7.
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
AbstractArticlePDF–3.1M
8.
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
AbstractArticlePDF–4.8M
9.
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
AbstractArticlePDF–1.6M
10.
PIP2-dependent coupling of voltage sensor and pore domains in Kv7.2 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
AbstractArticlePDF–3.4M
11.
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
AbstractArticlePDF–2.2M
12.
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
AbstractArticlePDF–955K
13.
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
AbstractArticlePDF–148K
14.
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
AbstractArticlePDF–782K
15.
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
AbstractArticlePDF–4.2M
16.
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
AbstractArticlePDF–8.9M
17.
Differential Expression of KCNQ2 Splice Variants: Implications to M Current Function during Neuronal Development
Jeffrey S. Smith, Claudia A. Iannotti, Pauline Dargis, Edward P. Christian, Jayashree Aiyar
J Neurosci. 2001 Feb 15; 21(4): 1096–1103. doi: 10.1523/JNEUROSCI.21-04-01096.2001
Correction in:
J Neurosci. 2001 Mar 15; 21(6): np.
PMCID:
PMC6762257
AbstractArticlePDF–332K
18.
Atypical Gating Of M-Type Potassium Channels Conferred by Mutations in Uncharged Residues in the S4 Region of KCNQ2 Causing Benign Familial Neonatal Convulsions
Maria Virginia Soldovieri, Maria Roberta Cilio, Francesco Miceli, Giulia Bellini, Emanuele Miraglia del Giudice, Pasqualina Castaldo, Ciria C. Hernandez, Mark S. Shapiro, Antonio Pascotto, Lucio Annunziato, Maurizio Taglialatela
J Neurosci. 2007 May 2; 27(18): 4919–4928. doi: 10.1523/JNEUROSCI.0580-07.2007
PMCID:
PMC6672104
AbstractArticlePDF–527K
19.
KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series
Inn‐Chi Lee, Tung‐Ming Chang, Jao‐Shwann Liang, Shuan‐Yow Li
Mol Genet Genomic Med. 2019 Jul; 7(7): e00816. Published online 2019 Jun 14. doi: 10.1002/mgg3.816
PMCID:
PMC6625149
AbstractArticlePDF–1.8M
20.
Lack of correlation between surface expression and currents in epileptogenic AB-calmodulin binding domain Kv7.2 potassium channel mutants
Alessandro Alaimo, Ainhoa Etxeberria, Juan Camilo Gómez-Posada, Carolina Gomis-Perez, Juncal Fernández-Orth, Covadonga Malo, Alvaro Villarroel
Channels (Austin) 2018; 12(1): 299–310. Published online 2018 Sep 26. doi: 10.1080/19336950.2018.1511512
PMCID:
PMC6161613
AbstractArticlePDF–1.6M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center