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Select item 84249671.

A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy

Na Xie, Weiwei Qin, Jianzhong Deng, Jinxing Qi, Dewang Niu, Guifeng Lu, Qun Wang

Transl Neurosci. 2021 Jan 1; 12(1): 330–334. Published online 2021 Sep 7. doi: 10.1515/tnsci-2020-0182

PMCID:: PMC8424967

Article PDF–1.7M

Select item 65736112.

Mutation Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Alters Ca²⁺ Permeability, Conductance, and Gating of Human α4β2 Nicotinic Acetylcholine Receptors

Alexander Kuryatov, Volodymyr Gerzanich, Mark Nelson, Felix Olale, Jon Lindstrom

J Neurosci. 1997 Dec 1; 17(23): 9035–9047. doi: 10.1523/JNEUROSCI.17-23-09035.1997

PMCID:: PMC6573611

Article PDF–345K

Select item 56680103.

Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca²⁺-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy

Zhi-Hong Chen, Chun Wang, Mu-Qing Zhuo, Qiong-Xiang Zhai, Qian Chen, Yu-Xiong Guo, Yu-Xin Zhang, Juan Gui, Zhi-Hong Tang, Xiao-Lu Zeng

Oncotarget. 2017 Oct 3; 8(45): 78940–78947. Published online 2017 Sep 5. doi: 10.18632/oncotarget.20694

PMCID:: PMC5668010

Article PDF–2.4M

Select item 49189174.

Mutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensitivity α4β2, and Increases α5α4β2, Nicotinic Receptor Surface Expression

Weston A. Nichols, Brandon J. Henderson, Christopher B. Marotta, Caroline Y. Yu, Chris Richards, Dennis A. Dougherty, Henry A. Lester, Bruce N. Cohen

PLoS One. 2016; 11(6): e0158032. Published online 2016 Jun 23. doi: 10.1371/journal.pone.0158032

PMCID:: PMC4918917

Article PDF–3.3M

Select item 45380635.

Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy

Zhihong Chen, Lingan Wang, Chun Wang, Qian Chen, Qiongxiang Zhai, Yuxiong Guo, Yuxin Zhang

Int J Clin Exp Med. 2015; 8(6): 9063–9070. Published online 2015 Jun 15.

PMCID:: PMC4538063

Article PDF–1.0M

Select item 43240706.

The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy

Andrea Becchetti, Patrizia Aracri, Simone Meneghini, Simone Brusco, Alida Amadeo

Front Physiol. 2015; 6: 22. Published online 2015 Feb 11. doi: 10.3389/fphys.2015.00022

PMCID:: PMC4324070

Article PDF–788K

Select item 26728067.

Nicotine Normalizes Intracellular Subunit Stoichiometry of Nicotinic Receptors Carrying Mutations Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Cagdas D. Son, Fraser J. Moss, Bruce N. Cohen, Henry A. Lester

Mol Pharmacol. 2009 May; 75(5): 1137–1148. Published online 2009 Feb 23. doi: 10.1124/mol.108.054494

PMCID:: PMC2672806

Article PDF–958K

Select item 15734158.

Molecular modelling of the interactions of carbamazepine and a nicotinic receptor involved in the autosomal dominant nocturnal frontal lobe epilepsy

M O Ortells, G E Barrantes

Br J Pharmacol. 2002 Jul; 136(6): 883–895. doi: 10.1038/sj.bjp.0704786

PMCID:: PMC1573415

Article PDF–329K

Select item 15710069.

Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

S Bertrand, S Weiland, S F Berkovic, O K Steinlein, D Bertrand

Br J Pharmacol. 1998 Oct; 125(4): 751–760. doi: 10.1038/sj.bjp.0702154

PMCID:: PMC1571006

Summary PDF–369K

Select item 137748010.

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.

H A Phillips, I E Scheffer, K M Crossland, K P Bhatia, D R Fish, C D Marsden, S J Howell, J B Stephenson, J Tolmie, G Plazzi, O Eeg-Olofsson, R Singh, I Lopes-Cendes, E Andermann, F Andermann, S F Berkovic, J C Mulley

Am J Hum Genet. 1998 Oct; 63(4): 1108–1116. doi: 10.1086/302047

PMCID:: PMC1377480

Summary PDF–681K

Select item 123491711.

CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Hilary A. Phillips, Isabelle Favre, Martin Kirkpatrick, Sameer M. Zuberi, David Goudie, Sarah E. Heron, Ingrid E. Scheffer, Grant R. Sutherland, Samuel F. Berkovic, Daniel Bertrand, John C. Mulley

Am J Hum Genet. 2001 Jan; 68(1): 225–231. Published online 2000 Dec 5. doi: 10.1086/316946

PMCID:: PMC1234917

Article PDF–250K

Select item 1039684012.

中枢胆碱能系统与癫痫关系的研究进展

Ying WANG, Yi WANG, Zhong CHEN

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2017 Feb 25; 46(1): 15–21. Chinese. doi: 10.3785/j.issn.1008-9292.2017.02.03

PMCID:: PMC10396840

Article PDF–2.5M

Select item 674209413.

Increased Sensitivity to Agonist-Induced Seizures, Straub Tail, and Hippocampal Theta Rhythm in Knock-In Mice Carrying Hypersensitive α4 Nicotinic Receptors

Carlos Fonck, Raad Nashmi, Purnima Deshpande, M. Imad Damaj, Michael J. Marks, Anett Riedel, Johannes Schwarz, Allan C. Collins, Cesar Labarca, Henry A. Lester

J Neurosci. 2003 Apr 1; 23(7): 2582–2590. doi: 10.1523/JNEUROSCI.23-07-02582.2003

PMCID:: PMC6742094

Article PDF–502K

Select item 672591814.

Novel Seizure Phenotype and Sleep Disruptions in Knock-In Mice with Hypersensitive α4^* Nicotinic Receptors

Carlos Fonck, Bruce N. Cohen, Raad Nashmi, Paul Whiteaker, Daniel A. Wagenaar, Nivalda Rodrigues-Pinguet, Purnima Deshpande, Sheri McKinney, Steven Kwoh, Jose Munoz, Cesar Labarca, Allan C. Collins, Michael J. Marks, Henry A. Lester

J Neurosci. 2005 Dec 7; 25(49): 11396–11411. doi: 10.1523/JNEUROSCI.3597-05.2005

PMCID:: PMC6725918

Article PDF–1.2M

Select item 649307615.

Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population

Jian Qu, Ying Zhang, Zhi‐Quan Yang, Xiao‐Yuan Mao, Bo‐Ting Zhou, Ji‐Ye Yin, Hui He, Xiang‐Ping Li, Hong‐Yu Long, Nan Lv, Xiao‐Jing Xu, Bo Xiao, Yu Zhang, Qiang Tang, Dong‐Li Hu, Hong‐Hao Zhou, Zhao‐Qian Liu

CNS Neurosci Ther. 2014 Feb; 20(2): 140–146. Published online 2013 Nov 27. doi: 10.1111/cns.12169

PMCID:: PMC6493076

Article PDF–281K

Select item 591533416.

Mutations in KCNT1 cause a spectrum of focal epilepsies

Rikke S. Møller, Sarah E. Heron, Line H. G. Larsen, Chiao Xin Lim, Michael G. Ricos, Marta A. Bayly, Marjan J. A. van Kempen, Sylvia Klinkenberg, Ian Andrews, Kent Kelley, Gabriel M. Ronen, David Callen, Jacinta M. McMahon, Simone C. Yendle, Gemma L. Carvill, Heather C. Mefford, Rima Nabbout, Annapurna Poduri, Pasquale Striano, Maria G. Baglietto, Federico Zara, Nicholas J. Smith, Clair Pridmore, Elena Gardella, Marina Nikanorova, Hans Atli Dahl, Pia Gellert, Ingrid E. Scheffer, Boudewijn Gunning, Bente Kragh-Olsen, Leanne M. Dibbens

Epilepsia. Author manuscript; available in PMC 2018 Apr 24.

Published in final edited form as: Epilepsia. 2015 Sep; 56(9): e114–e120. Published online 2015 Jun 30. doi: 10.1111/epi.13071

PMCID:: PMC5915334

Article PDF–182K

Select item 501010117.

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

Saeko Ishida, Fabienne Picard, Gabrielle Rudolf, Eric Noé, Guillaume Achaz, Pierre Thomas, Pierre Genton, Emeline Mundwiller, Markus Wolff, Christian Marescaux, Richard Miles, Michel Baulac, Edouard Hirsch, Eric Leguern, Stéphanie Baulac

Nat Genet. Author manuscript; available in PMC 2016 Sep 2.

Published in final edited form as: Nat Genet. 2013 May; 45(5): 552–555. Published online 2013 Mar 31. doi: 10.1038/ng.2601

PMCID:: PMC5010101

Article PDF–850K

Select item 469823818.

Distinctive effects of nicotinic receptor intracellular-loop mutations associated with nocturnal frontal lobe epilepsy

Maegan M. Weltzin, Jon M. Lindstrom, Ronald J. Lukas, Paul Whiteaker

Neuropharmacology. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: Neuropharmacology. 2016 Mar; 102: 158–173. Published online 2015 Nov 10. doi: 10.1016/j.neuropharm.2015.11.004

PMCID:: PMC4698238

Article PDF–2.6M

Select item 440828619.

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function

Valerio Conti, Patrizia Aracri, Laura Chiti, Simone Brusco, Francesco Mari, Carla Marini, Maria Albanese, Angela Marchi, Claudio Liguori, Fabio Placidi, Andrea Romigi, Andrea Becchetti, Renzo Guerrini

Neurology. 2015 Apr 14; 84(15): 1520–1528. doi: 10.1212/WNL.0000000000001471

PMCID:: PMC4408286

Article PDF–1.0M

Select item 415861720.

KCNT1 gain-of-function in two epilepsy phenotypes is reversed by quinidine

Carol J. Milligan, Melody Li, Elena V. Gazina, Sarah E. Heron, Umesh Nair, Chantel Trager, Christopher A. Reid, Anu Venkat, Donald P. Younkin, Dennis J. Dlugos, Slavé Petrovski, David B. Goldstein, Leanne M. Dibbens, Ingrid E. Scheffer, Samuel F Berkovic, Steven Petrou

Ann Neurol. Author manuscript; available in PMC 2015 Apr 14.

Published in final edited form as: Ann Neurol. 2014 Apr; 75(4): 581–590. Published online 2014 Apr 14. doi: 10.1002/ana.24128

PMCID:: PMC4158617

Article PDF–2.6M

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