PMC Links for Books (Select 5425184) - PMC

Select item 94725601.

Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans

Felicia Mermer, Sarah Poliquin, Shuizhen Zhou, Xiaodong Wang, Yifeng Ding, Fei Yin, Wangzhen Shen, Juexin Wang, Kathryn Rigsby, Dong Xu, Taralynn Mack, Gerald Nwosu, Carson Flamm, Matthew Stein, Jing-Qiong Kang

Neurobiol Dis. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Neurobiol Dis. 2022 Oct 1; 172: 105810. Published online 2022 Jul 14. doi: 10.1016/j.nbd.2022.105810

PMCID:: PMC9472560

Abstract Article PDF–2.7M

Select item 92381902.

Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications

Jennifer M. Bain, LeeAnne Green Snyder, Katherine L. Helbig, Dominique D. Cooper, Wendy K. Chung, Kimberly Goodspeed

J Neurodev Disord. 2022; 14: 40. Published online 2022 Jun 28. doi: 10.1186/s11689-022-09449-7

PMCID:: PMC9238190

Abstract Article PDF–856K

Select item 91164493.

Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD

Sarah Poliquin, Inna Hughes, Wangzhen Shen, Felicia Mermer, Juexin Wang, Taralynn Mack, Dong Xu, Jing-Qiong Kang

Exp Neurol. Author manuscript; available in PMC 2022 May 18.

Published in final edited form as: Exp Neurol. 2021 Aug; 342: 113723. Published online 2021 May 5. doi: 10.1016/j.expneurol.2021.113723

PMCID:: PMC9116449

Abstract Article PDF–1.0M

Select item 76776054.

Current knowledge of SLC6A1-related neurodevelopmental disorders

Kimberly Goodspeed, Eduardo Pérez-Palma, Sumaiya Iqbal, Dominique Cooper, Annalisa Scimemi, Katrine M Johannesen, Arthur Stefanski, Scott Demarest, Katherine L Helbig, Jingqiong Kang, Frances C Shaffo, Brandon Prentice, Catherine A Brownstein, Byungchan Lim, Ingo Helbig, Emily De Los Reyes, Dianalee McKnight, Vincenzo Crunelli, Arthur J Campbell, Rikke S Møller, Amber Freed, Dennis Lal

Brain Commun. 2020; 2(2): fcaa170. Published online 2020 Oct 13. doi: 10.1093/braincomms/fcaa170

PMCID:: PMC7677605

Abstract Article PDF–1.1M

Select item 74972895.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 71740496.

A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

Javier A López-Rivera, Eduardo Pérez-Palma, Joseph Symonds, Amanda S Lindy, Dianalee A McKnight, Costin Leu, Sameer Zuberi, Andreas Brunklaus, Rikke S Møller, Dennis Lal

Brain. 2020 Apr; 143(4): 1099–1105. Published online 2020 Mar 13. doi: 10.1093/brain/awaa051

PMCID:: PMC7174049

Abstract Article PDF–278K

Select item 59126887.

Defining the phenotypic spectrum of SLC6A1 mutations

Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna-Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaetan Lesca, Marie-Thérèse Abi-Warde, Jamel Chelly, Amélie Piton|, J. Lawrence Merritt, II, Lance H. Rodan, Wen-Hann Tan, Lynne M. Bird, Mark Nespeca, Joseph G. Gleeson, Yongjin Yoo, Murim Choi, Jong-Hee Chae, Desiree Czapansky-Beilman, Sara Chadwick Reichert, Manuela Pendziwiat, Judith S. Verhoeven, Helenius J. Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G. Weber, Caroline Nava, Boris Keren, Diane Doummar, Elise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica E. Shaw, Laura Pisani, Candace T. Myers, Sha Tang, Shan Tang, Deb K. Pal, John J. Millichap, Gemma L. Carvill, Kathrine L. Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C. Mefford, Rikke S. Møller

Epilepsia. Author manuscript; available in PMC 2019 Feb 1.

Published in final edited form as: Epilepsia. 2018 Feb; 59(2): 389–402. Published online 2018 Jan 8. doi: 10.1111/epi.13986

PMCID:: PMC5912688

Abstract Article PDF–935K

Select item 47319258.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 45705509.

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Gemma L. Carvill, Jacinta M. McMahon, Amy Schneider, Matthew Zemel, Candace T. Myers, Julia Saykally, John Nguyen, Angela Robbiano, Federico Zara, Nicola Specchio, Oriano Mecarelli, Robert L. Smith, Richard J. Leventer, Rikke S. Møller, Marina Nikanorova, Petia Dimova, Albena Jordanova, Steven Petrou, EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group, Ingo Helbig, Pasquale Striano, Sarah Weckhuysen, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford

Am J Hum Genet. 2015 May 7; 96(5): 808–815. doi: 10.1016/j.ajhg.2015.02.016

PMCID:: PMC4570550

Abstract Article PDF–286K

Select item 454475310.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

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