Robert L Macdonald Selected Research

GABA-A Receptors (GABA(A) Receptor)

11/2017	GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.
2/2013	Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation.
10/2012	The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through.
4/2012	GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating.
12/2011	The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6β22 and 6β2 GABA(A) receptor channel gating and expression.
10/2010	Slow degradation and aggregation in vitro of mutant GABAA receptor gamma2(Q351X) subunits associated with epilepsy.
8/2010	GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors.
9/2009	Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.
3/2009	Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X.
3/2009	The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression.

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Robert L Macdonald Research Topics

Disease

18	Epilepsy (Aura) 10/2020 - 02/2003
13	Seizures (Absence Seizure) 12/2020 - 08/2002
10	Epileptic Syndromes 12/2020 - 07/2002
8	Absence Epilepsy (Childhood Absence Epilepsy) 10/2016 - 10/2004
6	Generalized Epilepsy 08/2016 - 11/2003
5	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2017 - 10/2010
5	Febrile Seizures (Febrile Seizure) 12/2011 - 10/2004
4	Generalized Epilepsy with Febrile Seizures Plus 10/2010 - 02/2006
4	Juvenile Myoclonic Epilepsy 08/2010 - 06/2004
3	Brain Diseases (Brain Disorder) 11/2017 - 05/2016
3	Status Epilepticus (Complex Partial Status Epilepticus) 03/2008 - 08/2002
2	Lennox Gastaut Syndrome 01/2020 - 05/2016
2	Subarachnoid Hemorrhage (Aneurysmal Subarachnoid Hemorrhage) 01/2020 - 03/2006
2	Neurodegenerative Diseases (Neurodegenerative Disease) 07/2015 - 10/2010
2	Inborn Genetic Diseases (Disease, Hereditary) 09/2009 - 03/2009
1	Neuroinflammatory Diseases 10/2020
1	Traumatic Brain Injuries (Traumatic Brain Injury) 01/2020
1	Ischemic Stroke 01/2020
1	Wounds and Injuries (Trauma) 01/2020
1	Hyperekplexia 01/2018
1	Oculocutaneous albinism type 2 12/2016
1	Infantile Spasms (West Syndrome) 05/2016
1	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 01/2009
1	Idiopathic Generalized Epilepsy 10/2004

Drug/Important Bio-Agent (IBA)

21	GABA-A Receptors (GABA(A) Receptor)IBA 11/2017 - 07/2002
9	Aminobutyrates (Aminobutyric Acid)IBA 12/2020 - 02/2003
9	gamma-Aminobutyric Acid (GABA)IBA 01/2020 - 02/2003
7	Proteins (Proteins, Gene)FDA Link 10/2016 - 07/2004
5	Messenger RNA (mRNA)IBA 12/2016 - 03/2009
5	Nonsense Codon (Nonsense Mutation)IBA 10/2016 - 09/2009
3	Anticonvulsants (Antiepileptic Drugs)IBA 01/2020 - 08/2002
3	Ligand-Gated Ion ChannelsIBA 04/2014 - 01/2009
3	Terminator Codon (Termination Codon)IBA 10/2012 - 03/2009
3	Sodium Channels (Sodium Channel)IBA 03/2009 - 12/2002
3	Pilocarpine (Ocusert)FDA LinkGeneric 03/2008 - 08/2002
2	Ion Channels (Ion Channel)IBA 10/2020 - 07/2015
2	CytokinesIBA 10/2020 - 01/2017
2	Peptides (Polypeptides)IBA 02/2013 - 06/2008
2	Codon (Codons)IBA 02/2013 - 10/2012
2	Cholinergic ReceptorsIBA 09/2009 - 01/2009
2	Protein Subunits (Protein Subunit)IBA 06/2008 - 06/2004
2	BenzodiazepinesIBA 03/2008 - 08/2002
2	delta Opioid Receptors (delta Opioid Receptor)IBA 02/2006 - 07/2004
1	Vorinostat FDA Link 12/2020
1	EnzymesIBA 10/2020
1	Mutant Proteins (Protein, Mutant)IBA 10/2020
1	ImmunosorbentsIBA 10/2020
1	Nimodipine (Modus)FDA LinkGeneric 01/2020
1	Therapeutic UsesIBA 01/2020
1	Pharmaceutical PreparationsIBA 01/2020
1	CannabinoidsIBA 01/2020
1	Proline (L-Proline)FDA Link 01/2018
1	Glycine Receptors (Glycine Receptor)IBA 01/2018
1	Alanine (L-Alanine)FDA Link 01/2018
1	RNA (Ribonucleic Acid)IBA 12/2016
1	3' Untranslated Regions (3' UTR)IBA 02/2013
1	Amino Acids FDA Link 10/2012
1	AminoglycosidesIBA 10/2012
1	SodiumIBA 09/2009
1	PotassiumIBA 09/2009
1	LithiumIBA 03/2008
1	salicylhydroxamic acid (SHAM)IBA 03/2008
1	LipidsIBA 08/2007
1	Protein SIBA 08/2007
1	Inwardly Rectifying Potassium Channels (Inward Rectifier Potassium Channels)IBA 03/2006
1	Aspartic Acid (Aspartate)FDA Link 11/2005
1	Immunoglobulin E (IgE)IBA 10/2004
1	Phenobarbital (Luminal)FDA Link 08/2002
1	Phenytoin (Dilantin)FDA LinkGeneric 08/2002
1	Diazepam (Valium)FDA LinkGeneric 08/2002

Therapy/Procedure

2	Therapeutics 01/2016 - 07/2015