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XB--6033337
Papers associated with gabra1 (and Disease Ontology)
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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, GABRB2 Working Group., Ann Neurol. March 1, 2021; 89 (3): 573-586. |
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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. July 15, 2020; 40 (29): 5518-5530. |
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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. November 1, 2018; 59 (11): 2106-2117. |
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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 31, 2017; 88 (5): 483-492. |
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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. |
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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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