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Summary Expression Phenotypes Gene Literature (10) GO Terms (0) Nucleotides (35) Proteins (18) Interactants (40) Wiki
XB-GENEPAGE-6033337

Papers associated with gamma-aminobutyric acid (GABA) A receptor, alpha 1

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Characterization of the GABRB2-Associated Neurodevelopmental Disorders., El Achkar CM, Harrer M, Smith L, Kelly M, Iqbal S, Maljevic S, Niturad CE, Vissers LELM, Poduri A, Yang E, Lal D, Lerche H, Møller RS, Olson HE, null null., Ann Neurol. January 1, 2021; 89 (3): 573-586.      


Differential Coassembly of α1-GABAARs Associated with Epileptic Encephalopathy., Hannan S, Affandi AHB, Minere M, Jones C, Goh P, Warnes G, Popp B, Trollmann R, Nizetic D, Smart TG., J Neurosci. January 1, 2020; 40 (29): 5518-5530.


A novel GABAergic dysfunction in human Dravet syndrome., Ruffolo G, Cifelli P, Roseti C, Thom M, van Vliet EA, Limatola C, Aronica E, Palma E., Epilepsia. January 1, 2018; 59 (11): 2106-2117.


Mutations in GABRB3: From febrile seizures to epileptic encephalopathies., Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S., Neurology. January 1, 2017; 88 (5): 483-492.


Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies., Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad CE, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djémié T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljevic S., Neurology. September 13, 2016; 87 (11): 1140-51.


The biochemical anatomy of cortical inhibitory synapses., Heller EA, Zhang W, Selimi F, Earnheart JC, Ślimak MA, Santos-Torres J, Ibañez-Tallon I, Aoki C, Chait BT, Heintz N., PLoS One. January 1, 2012; 7 (6): e39572.            


Cloning and characterization of GABAA α subunits and GABAB subunits in Xenopus laevis during development., Kaeser GE, Rabe BA, Saha MS., Dev Dyn. April 1, 2011; 240 (4): 862-73.                                          


Mutations linked to generalized epilepsy in humans reduce GABA(A) receptor current., Macdonald RL, Bianchi MT, Bianch MT, Feng H., Exp Neurol. November 1, 2003; 184 Suppl 1 S58-67.


Functional characterization of the new human GABA(A) receptor mutation beta3(R192H)., Buhr A, Bianchi MT, Baur R, Courtet P, Pignay V, Boulenger JP, Gallati S, Hinkle DJ, Macdonald RL, Sigel E., Hum Genet. August 1, 2002; 111 (2): 154-60.


Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans., Bianchi MT, Song L, Zhang H, Macdonald RL., J Neurosci. July 1, 2002; 22 (13): 5321-7.

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