Seo-Kyung Chung Selected Research

Hyperekplexia

9/2014	Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.
11/2013	New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
10/2013	Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.
4/2013	Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.
3/2013	GLRB is the third major gene of effect in hyperekplexia.
8/2012	A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.
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.
1/2008	A critical role for glycine transporters in hyperexcitability disorders.

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Seo-Kyung Chung Research Topics

Disease

11	Hyperekplexia 09/2014 - 07/2006
3	Polymicrogyria 01/2018 - 02/2013
3	Malformations of Cortical Development 09/2015 - 02/2013
3	Epilepsy (Aura) 09/2015 - 04/2014
2	Brain Diseases (Brain Disorder) 01/2021 - 01/2018
2	Lissencephaly 09/2015 - 02/2013
2	Nervous System Diseases (Neurological Disorders) 01/2008 - 07/2006
1	Sudden Unexpected Death in Epilepsy 09/2015
1	Muscle Hypertonia 09/2014
1	Heart Diseases (Heart Disease) 04/2011
1	Carcinoid Tumor (Carcinoid) 04/2011
1	Long QT Syndrome 04/2011
1	Jervell-Lange Nielsen Syndrome (Jervell and Lange-Nielsen Syndrome) 04/2011
1	Nonketotic Hyperglycinemia 01/2008
1	Fever (Fevers) 05/2007

Drug/Important Bio-Agent (IBA)

5	Glycine Receptors (Glycine Receptor)IBA 11/2013 - 07/2006
4	Glycine Plasma Membrane Transport ProteinsIBA 10/2013 - 07/2006
3	TubulinIBA 09/2015 - 02/2013
3	Ligand-Gated Ion ChannelsIBA 04/2014 - 07/2010
3	DNA (Deoxyribonucleic Acid)IBA 04/2013 - 07/2010
3	Nonsense Codon (Nonsense Mutation)IBA 04/2011 - 07/2006
2	Proteins (Proteins, Gene)FDA Link 09/2015 - 01/2008
2	Glycine (Aminoacetic Acid)FDA LinkGeneric 10/2013 - 01/2008
1	fibroblast growth factor 13IBA 01/2021
1	Protein Isoforms (Isoforms)IBA 01/2021
1	AMPA Receptors (AMPA Receptor)IBA 01/2018
1	LigandsIBA 01/2018
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 01/2018
1	Clonazepam (Rivotril)FDA LinkGeneric 09/2014
1	Amino Acids FDA Link 04/2014
1	Aminobutyrates (Aminobutyric Acid)IBA 04/2014
1	gamma-Aminobutyric Acid (GABA)IBA 04/2014
1	Biological ProductsIBA 03/2013
1	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 02/2013
1	AcidsIBA 04/2011
1	GastrinsIBA 04/2011
1	gephyrinIBA 01/2008
1	Ajmaline (Wolfina)FDA Link 05/2007

Therapy/Procedure

1	Electrodes (Electrode) 01/2018