Kirsten Harvey Selected Research

Hyperekplexia

1/2022	Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome.
4/2013	Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.
8/2012	Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
7/2010	Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.
1/2010	The glycinergic system in human startle disease: a genetic screening approach.
9/2008	The genetics of hyperekplexia: more than startle!
1/2008	A critical role for glycine transporters in hyperexcitability disorders.
7/2006	Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
1/2004	Frontal lobe dysfunction in sporadic hyperekplexia--case study and literature review.
7/2003	Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Kirsten Harvey Research Topics

Disease

18	Parkinson Disease (Parkinson's Disease) 05/2022 - 11/2005
10	Hyperekplexia 01/2022 - 07/2003
3	Stroke (Strokes) 03/2022 - 04/2020
3	Intellectual Disability (Idiocy) 01/2019 - 09/2010
3	Epilepsy (Aura) 01/2009 - 01/2004
2	Atrial Fibrillation 01/2021 - 04/2020
2	Alzheimer Disease (Alzheimer's Disease) 01/2019 - 01/2019
2	Dystonia (Limb Dystonia) 01/2014 - 09/2008
2	Nervous System Diseases (Neurological Disorders) 01/2008 - 07/2006
1	Ischemic Stroke 03/2022
1	Cicatrix (Scar) 07/2021
1	Corneal Injuries 07/2021
1	Down Syndrome (Down's Syndrome) 01/2019
1	Disease Susceptibility (Diathesis) 01/2016
1	Neurodevelopmental Disorders 01/2015
1	Movement Disorders (Movement Disorder) 01/2014
1	X-Linked Mental Retardation (Mental Retardation, X Linked) 08/2011
1	Seizures (Absence Seizure) 09/2010
1	Sleep Initiation and Maintenance Disorders (Insomnia) 01/2009
1	Nonketotic Hyperglycinemia 01/2008
1	Neurodegenerative Diseases (Neurodegenerative Disease) 11/2007
1	Mitochondrial Diseases (Mitochondrial Disease) 11/2007
1	Pain (Aches) 05/2004
1	Inflammation (Inflammations) 05/2004
1	Molybdenum cofactor deficiency 07/2003

Drug/Important Bio-Agent (IBA)

12	Phosphotransferases (Kinase)IBA 01/2020 - 11/2007
11	Proteins (Proteins, Gene)FDA Link 01/2020 - 07/2003
9	Leucine (L-Leucine)FDA Link 01/2020 - 01/2011
7	Glycine Receptors (Glycine Receptor)IBA 01/2022 - 07/2003
6	gephyrinIBA 01/2019 - 07/2003
4	DNA (Deoxyribonucleic Acid)IBA 01/2015 - 07/2010
3	GABA-A Receptors (GABA(A) Receptor)IBA 08/2011 - 09/2008
2	GTP Phosphohydrolases (GTPases)IBA 01/2016 - 01/2014
2	Protein Isoforms (Isoforms)IBA 01/2014 - 07/2003
2	Glycine (Aminoacetic Acid)FDA LinkGeneric 08/2011 - 01/2008
2	Nonsense Codon (Nonsense Mutation)IBA 01/2010 - 07/2006
2	Glycine Plasma Membrane Transport ProteinsIBA 09/2008 - 07/2006
1	IronIBA 05/2022
1	Transferrin (beta 2 Transferrin)IBA 05/2022
1	pirfenidoneIBA 07/2021
1	Polylactic Acid-Polyglycolic Acid CopolymerIBA 07/2021
1	Biomarkers (Surrogate Marker)IBA 07/2021
1	Biological ProductsIBA 07/2021
1	Pharmaceutical PreparationsIBA 07/2021
1	Povidone (Crospovidone)IBA 07/2021
1	Anti-Bacterial Agents (Antibiotics)IBA 07/2021
1	Ophthalmic Solutions (Eye Drops)IBA 07/2021
1	Moxifloxacin (Avelox)FDA Link 07/2021
1	AnticoagulantsIBA 01/2021
1	ClathrinIBA 01/2020
1	Phosphatidylinositols (Phosphatidylinositol)IBA 01/2019
1	RNA (Ribonucleic Acid)IBA 01/2019
1	tau Proteins (tau Protein)IBA 01/2019
1	CateninsIBA 01/2019
1	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2018
1	Leucine-Rich Repeat ProteinsIBA 01/2014
1	TubulinIBA 01/2014
1	Adenosine Triphosphatases (ATPase)IBA 01/2014
1	EnzymesIBA 01/2014
1	gamma-Aminobutyric Acid (GABA)IBA 09/2010
1	Ligand-Gated Ion ChannelsIBA 07/2010
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 11/2007
1	High-Temperature Requirement A Serine Peptidase 2IBA 11/2007
1	PTEN-induced putative kinaseIBA 07/2006
1	glycine receptor alpha3 subunitIBA 05/2004
1	Dinoprostone (PGE2)FDA Link 05/2004
1	Phenytoin (Dilantin)FDA LinkGeneric 01/2004

Therapy/Procedure

4	Therapeutics 07/2021 - 05/2004
1	Secondary Prevention 03/2022
1	Topical Administration 07/2021