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XB--994627
Papers associated with scn1b (and Disease Ontology)
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Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1., Meadows LS, Malhotra J, Loukas A, Thyagarajan V, Kazen-Gillespie KA, Koopman MC, Kriegler S, Isom LL, Ragsdale DS., J Neurosci. December 15, 2002; 22 (24): 10699-709. |
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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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A functional null mutation of SCN1B in a patient with Dravet syndrome., Patino GA, Claes LR, Lopez-Santiago LF, Slat EA, Dondeti RS, Chen C, O'Malley HA, Gray CB, Miyazaki H, Nukina N, Oyama F, De Jonghe P, Isom LL., J Neurosci. August 26, 2009; 29 (34): 10764-78. |
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