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XB--994627
Papers associated with scn1b (and Disease Ontology)
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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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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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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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Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus., Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, Wallace RH, Richards MC, Williams DA, Mulley JC, Berkovic SF, Scheffer IE, Petrou S., Am J Hum Genet. February 1, 2002; 70 (2): 530-6.  |
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