List of works - Seo-Kyung Chung

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

scientific article

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

scientific article published on July 2010

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

scientific article

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

scientific article published on April 2014

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease

scientific article

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

scientific article

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

scientific article published on 30 June 2015

Near-miss SIDS due to Brugada syndrome

scientific article published in May 2005

Posthumous diagnosis of long QT syndrome from neonatal screening cards

article

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene

scientific article

GLRB is the third major gene of effect in hyperekplexia.

scientific article published on 25 November 2012

The glycinergic system in human startle disease: a genetic screening approach

scientific article

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

scientific article published on 10 December 2012

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2

scientific article

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

scientific article published on 09 October 2013

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

scientific article

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

scientific article

A critical role for glycine transporters in hyperexcitability disorders

scientific article

A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

scientific article

Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

scientific article published on 22 May 2009

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

scientific article

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy

scientific article

Symptoms and signs associated with syncope in young people with primary cardiac arrhythmias

scientific article published on 26 May 2011

Next Generation Sequencing Methodologies - An Overview

scientific article published on January 1, 2012

Ethnicity can predict GLRA1 genotypes in hyperekplexia.

scientific article

Coinheritance of long QT syndrome and Kearns-Sayre syndrome

scientific article published on 15 August 2007

Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy.

scientific article published on 23 October 2012

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus

scientific article published on 01 July 2018

Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients

scientific article

Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.

scientific article

List of works by Seo-Kyung Chung

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Near-miss SIDS due to Brugada syndrome

Posthumous diagnosis of long QT syndrome from neonatal screening cards

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene

GLRB is the third major gene of effect in hyperekplexia.

The glycinergic system in human startle disease: a genetic screening approach

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

A critical role for glycine transporters in hyperexcitability disorders

A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy

Symptoms and signs associated with syncope in young people with primary cardiac arrhythmias

Next Generation Sequencing Methodologies - An Overview

Ethnicity can predict GLRA1 genotypes in hyperekplexia.

Coinheritance of long QT syndrome and Kearns-Sayre syndrome

Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy.

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus

Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients

Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.