GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1

Literature (3)

Literature for OMIM 604233: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1

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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 1:0014-4886.
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):1529-2401.
Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy., Becker F,Reid CA,Hallmann K,Phillips AM,Teodorescu G,Kleefuss-Lie A,Elger C,Perez-Reyes E,Petrou S,Lerche H,Maljevic S,Tae HS,Weber YG,Kunz WS, Epilepsia Open. August 5, 2017; 2(3):2470-9239.

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 1:0014-4886.

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):1529-2401.

Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy., Becker F,Reid CA,Hallmann K,Phillips AM,Teodorescu G,Kleefuss-Lie A,Elger C,Perez-Reyes E,Petrou S,Lerche H,Maljevic S,Tae HS,Weber YG,Kunz WS, Epilepsia Open. August 5, 2017; 2(3):2470-9239.