|
1
|
Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies.
|
J Neurosci
|
2006
|
1.45
|
|
2
|
Endoplasmic reticulum retention and associated degradation of a GABAA receptor epilepsy mutation that inserts an aspartate in the M3 transmembrane segment of the alpha1 subunit.
|
J Biol Chem
|
2005
|
1.33
|
|
3
|
The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression.
|
J Neurosci
|
2009
|
1.30
|
|
4
|
Rapid stimulation causes electrical remodeling in cultured atrial myocytes.
|
J Mol Cell Cardiol
|
2005
|
1.20
|
|
5
|
Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X.
|
J Neurosci
|
2009
|
1.15
|
|
6
|
Quantitation of protein kinase A-mediated trafficking of cardiac sodium channels in living cells.
|
Cardiovasc Res
|
2006
|
1.07
|
|
7
|
Phosphorylation and putative ER retention signals are required for protein kinase A-mediated potentiation of cardiac sodium current.
|
Circ Res
|
2002
|
1.05
|
|
8
|
Slow degradation and aggregation in vitro of mutant GABAA receptor gamma2(Q351X) subunits associated with epilepsy.
|
J Neurosci
|
2010
|
0.99
|
|
9
|
Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.
|
Ann Neurol
|
2013
|
0.95
|
|
10
|
Modulation of the human Kv1.5 channel by protein kinase C activation: role of the Kvbeta1.2 subunit.
|
J Pharmacol Exp Ther
|
2002
|
0.85
|
|
11
|
Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation.
|
Neurobiol Dis
|
2012
|
0.84
|