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Select item 62207081.

Structure of a human synaptic GABA-A receptor

Shaotong Zhu, Colleen M. Noviello, Jinfeng Teng, Richard M. Walsh, Jr., Jeong Joo Kim, Ryan E. Hibbs

Nature. Author manuscript; available in PMC 2018 Dec 27.

Published in final edited form as: Nature. 2018 Jul; 559(7712): 67–72. Published online 2018 Jun 27. doi: 10.1038/s41586-018-0255-3

PMCID:: PMC6220708

Abstract Article PDF–6.8M

Select item 61623182.

Structural basis of neurosteroid anesthetic action on GABA_A receptors

Qiang Chen, Marta M. Wells, Palaniappa Arjunan, Tommy S. Tillman, Aina E. Cohen, Yan Xu, Pei Tang

Nat Commun. 2018; 9: 3972. Published online 2018 Sep 28. doi: 10.1038/s41467-018-06361-4

PMCID:: PMC6162318

Abstract Article PDF–1.5M

Select item 57417193.

Interactions between GHRH and GABAARs in the brains of patients with epilepsy and in animal models of epilepsy

Shirong Tang, Zhong Luo, Xiaowei Qiu, Yanke Zhang, Xi Lu, Hao huang, Zhongxiang Xu, Zucai Xu

Sci Rep. 2017; 7: 18110. Published online 2017 Dec 22. doi: 10.1038/s41598-017-18416-5

PMCID:: PMC5741719

Abstract Article PDF–2.1M

Select item 70128624.

A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro

Friederike Steudle, Sabah Rehman, Konstantina Bampali, Xenia Simeone, Zsofia Rona, Erwin Hauser, Wolfgang M. Schmidt, Petra Scholze, Margot Ernst

Sci Rep. 2020; 10: 2379. Published online 2020 Feb 11. doi: 10.1038/s41598-020-59323-6

PMCID:: PMC7012862

Abstract Article PDF–2.5M

Select item 68621825.

Genetics and Extracellular Vesicles of Pediatrics Sleep Disordered Breathing and Epilepsy

Abdelnaby Khalyfa, David Sanz-Rubio

Int J Mol Sci. 2019 Nov; 20(21): 5483. Published online 2019 Nov 4. doi: 10.3390/ijms20215483

PMCID:: PMC6862182

Abstract Article PDF–3.6M

Select item 68566286.

Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins

Martin Krenn, Margot Ernst, Matthias Tomschik, Marco Treven, Matias Wagner, Dominik S. Westphal, Thomas Meitinger, Ekaterina Pataraia, Fritz Zimprich, Susanne Aull‐Watschinger

Ann Clin Transl Neurol. 2019 Nov; 6(11): 2317–2322. Published online 2019 Sep 30. doi: 10.1002/acn3.50895

PMCID:: PMC6856628

Abstract Article PDF–1.1M

Select item 68425447.

Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy

Yun-Fei Bai, Michelle Chiu, Elizabeth S. Chan, Peter Axerio-Cilies, Jie Lu, Linda Huh, Mary B. Connolly, Ilaria Guella, Matthew J. Farrer, Zhi-Qing David Xu, Lidong Liu, Michelle Demos, Yu Tian Wang

Mol Brain. 2019; 12: 92. Published online 2019 Nov 10. doi: 10.1186/s13041-019-0513-9

Correction in:: Mol Brain. 2020; 13: 50.

PMCID:: PMC6842544

Abstract Article PDF–4.4M

Select item 65365928.

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer

Front Neurol. 2019; 10: 434. Published online 2019 May 21. doi: 10.3389/fneur.2019.00434

PMCID:: PMC6536592

Abstract Article PDF–405K

Select item 64814559.

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy

Jorune Balciuniene, Elizabeth T. DeChene, Gozde Akgumus, Edward J. Romasko, Kajia Cao, Holly A. Dubbs, Surabhi Mulchandani, Nancy B. Spinner, Laura K. Conlin, Eric D. Marsh, Ethan Goldberg, Ingo Helbig, Mahdi Sarmady, Ahmad Abou Tayoun

JAMA Netw Open. 2019 Apr; 2(4): e192129. Published online 2019 Apr 12. doi: 10.1001/jamanetworkopen.2019.2129

PMCID:: PMC6481455

Abstract Article

Select item 606169210.

De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy

Kameryn M Butler, Olivia A Moody, Elisabeth Schuler, Jason Coryell, John J Alexander, Andrew Jenkins, Andrew Escayg

Brain. 2018 Aug; 141(8): 2392–2405. Published online 2018 Jun 28. doi: 10.1093/brain/awy171

PMCID:: PMC6061692

Abstract Article PDF–820K

Select item 589546111.

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

Mary Beth Stosser, Amanda S Lindy, Elizabeth Butler, Kyle Retterer, Caitlin M Piccirillo-Stosser, Gabriele Richard, Dianalee A McKnight

Genet Med. 2018 Apr; 20(4): 403–410. Published online 2017 Aug 24. doi: 10.1038/gim.2017.114

PMCID:: PMC5895461

Abstract Article PDF–228K

Select item 584253512.

GABA_B receptor regulates proliferation in the high-grade chondrosarcoma cell line OUMS-27 via apoptotic pathways

Kiyoto Kanbara, Yoshinori Otsuki, Masahito Watanabe, Syunichi Yokoe, Yoshiaki Mori, Michio Asahi, Masashi Neo

BMC Cancer. 2018; 18: 263. Published online 2018 Mar 7. doi: 10.1186/s12885-018-4149-4

PMCID:: PMC5842535

Abstract Article PDF–1.0M

Select item 569848913.

GABA_A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy

Ciria C. Hernandez, Yujia Zhang, Ningning Hu, Dingding Shen, Wangzhen Shen, Xiaoyan Liu, Weijing Kong, Yuwu Jiang, Robert L. Macdonald

Sci Rep. 2017; 7: 15903. Published online 2017 Nov 21. doi: 10.1038/s41598-017-16010-3

PMCID:: PMC5698489

Abstract Article PDF–12M

Select item 559315414.

Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome

Lauge Farnaes, Shareef A. Nahas, Shimul Chowdhury, James Nelson, Serge Batalov, David M. Dimmock, Stephen F. Kingsmore, on behalf of the RCIGM Investigators

Cold Spring Harb Mol Case Stud. 2017 Sep; 3(5): a001776. doi: 10.1101/mcs.a001776