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Mark I Rees Selected Research

Ligand-Gated Ion Channels

4/2014A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
11/2013New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
7/2010Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.

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Mark I Rees Research Topics

Disease

14Hyperekplexia
09/2014 - 04/2002
9Epilepsy (Aura)
01/2021 - 09/2008
4Malformations of Cortical Development
12/2018 - 02/2013
3Polymicrogyria
01/2018 - 02/2013
3Nervous System Diseases (Neurological Disorders)
01/2008 - 04/2002
2Brain Diseases (Brain Disorder)
01/2021 - 01/2018
2Lissencephaly
09/2015 - 02/2013
2Juvenile Myoclonic Epilepsy
07/2014 - 06/2014
2Long QT Syndrome
04/2011 - 04/2006
2Huntington Disease (Huntington's Disease)
12/2010 - 06/2004
2Spinocerebellar Ataxias (Spinocerebellar Ataxia)
06/2004 - 06/2003
1Seizures (Absence Seizure)
12/2019
1Epileptic Syndromes
12/2019
1Febrile Seizures (Febrile Seizure)
12/2019
1Neurologic Manifestations (Neurological Manifestations)
12/2019
1Partial Epilepsies (Epilepsy, Partial)
12/2019
1Generalized Epilepsy
12/2019
1Inflammation (Inflammations)
12/2018
1Demyelinating Diseases (Demyelinating Disease)
12/2018
1Multiple Sclerosis
01/2016
1Central Nervous System Diseases (CNS Diseases)
01/2016
1Sudden Unexpected Death in Epilepsy
09/2015
1Muscle Hypertonia
09/2014
1Body Weight (Weight, Body)
07/2013
1Jervell-Lange Nielsen Syndrome (Jervell and Lange-Nielsen Syndrome)
04/2011
1Heart Diseases (Heart Disease)
04/2011
1Carcinoid Tumor (Carcinoid)
04/2011
1Cystic Fibrosis (Mucoviscidosis)
12/2010
1Sickle Cell Anemia (Hemoglobin S Disease)
12/2010
1Sudden Death
08/2009
1Dystonia (Limb Dystonia)
09/2008
1Nonketotic Hyperglycinemia
01/2008
1Drug-Related Side Effects and Adverse Reactions
04/2006
1Heart Arrest (Cardiac Arrest)
04/2006
1Torsades de Pointes (Torsade de Pointes)
04/2006
1Neurodegenerative Diseases (Neurodegenerative Disease)
06/2004
1Atrophy
06/2004
1Alzheimer Disease (Alzheimer's Disease)
06/2004
1Molybdenum cofactor deficiency
07/2003

Drug/Important Bio-Agent (IBA)

7Glycine Receptors (Glycine Receptor)IBA
11/2013 - 04/2002
5Pharmaceutical PreparationsIBA
12/2019 - 01/2014
5Proteins (Proteins, Gene)FDA Link
12/2019 - 07/2003
5Glycine Plasma Membrane Transport ProteinsIBA
10/2013 - 07/2006
4Anticonvulsants (Antiepileptic Drugs)IBA
01/2021 - 07/2013
4TubulinIBA
12/2018 - 02/2013
3Ligand-Gated Ion ChannelsIBA
04/2014 - 07/2010
3DNA (Deoxyribonucleic Acid)IBA
04/2013 - 07/2010
3Nonsense Codon (Nonsense Mutation)IBA
04/2011 - 07/2006
2Protein Isoforms (Isoforms)IBA
01/2021 - 07/2003
2Glycine (Aminoacetic Acid)FDA LinkGeneric
10/2013 - 01/2008
2gephyrinIBA
01/2008 - 07/2003
2tributyl phosphate (TBP)IBA
06/2004 - 06/2003
2polyglutamineIBA
06/2004 - 06/2003
1fibroblast growth factor 13IBA
01/2021
1EnzymesIBA
01/2021
1Syntaxin 1IBA
12/2019
1Biomarkers (Surrogate Marker)IBA
12/2018
1AMPA Receptors (AMPA Receptor)IBA
01/2018
1LigandsIBA
01/2018
1N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA
01/2018
1ParaffinIBA
01/2016
1Formaldehyde (Formol)FDA Link
01/2016
1Complement System Proteins (Complement)IBA
01/2016
1Clonazepam (Rivotril)FDA LinkGeneric
09/2014
1Amino AcidsFDA Link
04/2014
1Aminobutyrates (Aminobutyric Acid)IBA
04/2014
1gamma-Aminobutyric Acid (GABA)IBA
04/2014
1Folic Acid (Vitamin M)FDA LinkGeneric
01/2014
1Lamotrigine (Lamictal)FDA LinkGeneric
07/2013
1Topiramate (Topamax)FDA LinkGeneric
07/2013
1Levetiracetam (Keppra)FDA LinkGeneric
07/2013
1Carbamazepine (Tegretol)FDA LinkGeneric
07/2013
1Valproic Acid (Depakote)FDA LinkGeneric
07/2013
1Biological ProductsIBA
03/2013
1Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA
02/2013
1GastrinsIBA
04/2011
1AcidsIBA
04/2011
1Genetic Markers (Genetic Marker)IBA
12/2010
1Ether (Diethyl Ether)IBA
08/2009
1Potassium Channels (Potassium Channel)IBA
08/2009
1GABA-A Receptors (GABA(A) Receptor)IBA
09/2008
1Cisapride (Propulsid)FDA Link
04/2006
1sibutramine (Meridia)FDA Link
04/2006
1Amyloid beta-PeptidesIBA
06/2004
1TATA-Box Binding Protein (TATA-Binding Protein)IBA
06/2003

Therapy/Procedure

1Electrodes (Electrode)
01/2018