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XB--5949004
Papers associated with gabrg2 (and OMIM)
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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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