GABA(A) Receptor Defects Can Cause Epilepsy

por Macdonald, Robert L.
Publicado em 2001

Two γ2L subunit domains confer low Zn(2+) sensitivity to ternary GABA(A) receptors

por Nagaya, Naomi, Macdonald, Robert L
Publicado em 2001

Slow phases of GABA(A) receptor desensitization: structural determinants and possible relevance for synaptic function

por Bianchi, Matt T, Macdonald, Robert L
Publicado em 2002

Rapid Seizure-Induced Reduction of Benzodiazepine and Zn(2+) Sensitivity of Hippocampal Dentate Granule Cell GABA(A) Receptors

por Kapur, Jaideep, Macdonald, Robert L.
Publicado em 1997

The Intronic GABRG2 Mutation, IVS6+2T→G, Associated with Childhood Absence Epilepsy Altered Subunit mRNA Intron Splicing, Activated Nonsense-Mediated Decay, and Produced a Stable T...

por Tian, Mengnan, Macdonald, Robert L.
Publicado em 2012

The GABA(A) Receptor γ2 Subunit R43Q Mutation Linked to Childhood Absence Epilepsy and Febrile Seizures Causes Retention of α1β2γ2S Receptors in the Endoplasmic Reticulum

por Kang, Jingqiong, Macdonald, Robert L.
Publicado no J Neurosci (2004)

Neurosteroids Shift Partial Agonist Activation of GABA(A) Receptor Channels from Low- to High-Efficacy Gating Patterns

por Bianchi, Matt T., Macdonald, Robert L.
Publicado no J Neurosci (2003)

Agonist Trapping by GABA(A) Receptor Channels

por Bianchi, Matt T., Macdonald, Robert L.
Publicado no J Neurosci (2001)

GABA(A) receptor subunit γ2 and δ subtypes confer unique kinetic properties on recombinant GABA(A) receptor currents in mouse fibroblasts

por Haas, Kevin F, Macdonald, Robert L
Publicado em 1999

Molecular Pathology of Genetic Epilepsies Associated with GABA(A) Receptor Subunit Mutations

por Macdonald, Robert L, Kang, Jing-Qiong
Publicado em 2009

Barbiturates Require the N Terminus and First Transmembrane Domain of the δ Subunit for Enhancement of α1β3δ GABA(A) Receptor Currents

por Feng, Hua-Jun, Macdonald, Robert L.
Publicado em 2010

Making Sense of Nonsense GABA(A) Receptor Mutations Associated with Genetic Epilepsies

por Kang, Jing-Qiong, Macdonald, Robert L.
Publicado em 2009

mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABA(A) receptor subunits associated with genetic epilepsies

por Macdonald, Robert L., Kang, Jing-Qiong
Publicado em 2012

GABRG2 Mutations Associated with a spectrum of epilepsy syndromes from Generalized Absence Epilepsy to Dravet syndrome

por Kang, Jing-Qiong, Macdonald, Robert L.
Publicado no JAMA Neurol (2016)

β Subunit Phosphorylation Selectively Increases Fast Desensitization and Prolongs Deactivation of α1β1γ2L and α1β3γ2L GABA(A) Receptor Currents

por Hinkle, David J., Macdonald, Robert L.
Publicado no J Neurosci (2003)

The Role of an α Subtype M(2)-M(3) His in Regulating Inhibition of GABA(A) Receptor Current by Zinc and Other Divalent Cations

por Fisher, Janet L., Macdonald, Robert L.
Publicado no J Neurosci (1998)

Two Molecular Pathways (NMD and ERAD) Contribute to a Genetic Epilepsy Associated with the GABA(A) Receptor GABRA1 PTC Mutation, 975delC, S326fs328X

por Kang, Jing-Qiong, Shen, Wangzhen, Macdonald, Robert L.
Publicado em 2009

The GABRG2 Mutation, Q351X, Associated with Generalized Epilepsy with Febrile Seizures Plus, Has Both Loss of Function and Dominant-Negative Suppression

por Kang, Jing-Qiong, Shen, Wangzhen, Macdonald, Robert L.
Publicado em 2009

Modulation of Spontaneous and GABA-Evoked Tonic α4β3δ and α4β3γ2L GABA(A) Receptor Currents by Protein Kinase A

por Tang, Xin, Hernandez, Ciria C., Macdonald, Robert L.
Publicado em 2010

TRAFFICKING-DEFICIENT MUTANT GABRG2 SUBUNIT AMOUNT MAY MODIFY EPILEPSY PHENOTYPE

por Kang, Jing-Qiong, Shen, Wangzhen, Macdonald, Robert L.
Publicado em 2013