PMC Links for OMIM (Select 137141) - PMC

Select item 93042301.

A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype

Florian D. Vogel, Martin Krenn, Dominik S. Westphal, Elisabeth Graf, Matias Wagner, Steffen Leiz, Filip Koniuszewski, Maximilian Augé‐Stock, Georg Kramer, Petra Scholze, Margot Ernst

Epilepsia. 2022 Apr; 63(4): e35–e41. Published online 2022 Feb 12. doi: 10.1111/epi.17188

PMCID:: PMC9304230

Abstract Article PDF–875K

Select item 28873502.

A Critical Role for α4βδ GABA_A Receptors in Shaping Learning Deficits at Puberty in Mice

Hui Shen, Nicole Sabaliauskas, Ang Sherpa, André A. Fenton, Armin Stelzer, Chiye Aoki, Sheryl S. Smith

Science. Author manuscript; available in PMC 2010 Jun 17.

Published in final edited form as: Science. 2010 Mar 19; 327(5972): 1515–1518. doi: 10.1126/science.1184245

PMCID:: PMC2887350

Abstract Article PDF–1.4M

Select item 15787623.

GABA_A receptor α4 subunits mediate extrasynaptic inhibition in thalamus and dentate gyrus and the action of gaboxadol

D. Chandra, F. Jia, J. Liang, Z. Peng, A. Suryanarayanan, D. F. Werner, I. Spigelman, C. R. Houser, R. W. Olsen, N. L. Harrison, G. E. Homanics

Proc Natl Acad Sci U S A. 2006 Oct 10; 103(41): 15230–15235. Published online 2006 Sep 27. doi: 10.1073/pnas.0604304103

PMCID:: PMC1578762

Abstract Article PDF–1.2M

Select item 15135154.

Investigation of autism and GABA receptor subunit genes in multiple ethnic groups

Ann L. Collins, Deqiong Ma, Patrice L. Whitehead, Eden R. Martin, Harry H. Wright, Ruth K. Abramson, John P. Hussman, Jonathan L. Haines, Michael L. Cuccaro, John R. Gilbert, Margaret A. Pericak-Vance

Neurogenetics. 2006 Jul; 7(3): 167–174. Published online 2006 Jun 13. doi: 10.1007/s10048-006-0045-1

PMCID:: PMC1513515

Abstract Article PDF–158K

Select item 12262045.

Identification of Significant Association and Gene-Gene Interaction of GABA Receptor Subunit Genes in Autism

D. Q. Ma, P. L. Whitehead, M. M. Menold, E. R. Martin, A. E. Ashley-Koch, H. Mei, M. D. Ritchie, G. R. DeLong, R. K. Abramson, H. H. Wright, M. L. Cuccaro, J. P. Hussman, J. R. Gilbert, M. A. Pericak-Vance

Am J Hum Genet. 2005 Sep; 77(3): 377–388. Published online 2005 Jul 15. doi: 10.1086/433195

PMCID:: PMC1226204

Abstract Article PDF–127K

Select item 11879616.

Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA_A receptor α4 subunit expression

D. S. Roberts, Y. H. Raol, S. Bandyopadhyay, I. V. Lund, E. C. Budreck, M. J. Passini, J. H. Wolfe, A. R. Brooks-Kayal, S. J. Russek

Proc Natl Acad Sci U S A. 2005 Aug 16; 102(33): 11894–11899. Published online 2005 Aug 9. doi: 10.1073/pnas.0501434102

Correction in:: Proc Natl Acad Sci U S A. 2005 Sep 13; 102(37): 13351.

PMCID:: PMC1187961

Abstract Article PDF–729K

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