about
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene.A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.The glycinergic system in human startle disease: a genetic screening approach.A critical role for glycine transporters in hyperexcitability disorders.Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.Symptoms and signs associated with syncope in young people with primary cardiac arrhythmias.A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsyGenome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle diseaseNew hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.Next generation sequencing methodologies--an overview.Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy.Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.Near-miss SIDS due to Brugada syndrome.Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.Ethnicity can predict GLRA1 genotypes in hyperekplexia.Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients.De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.GLRB is the third major gene of effect in hyperekplexia.Coinheritance of long QT syndrome and Kearns-Sayre syndrome.Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome.Posthumous diagnosis of long QT syndrome from neonatal screening cardsExpanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus
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description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Seo-Kyung Chung
@en
Seo-Kyung Chung
@es
Seo-Kyung Chung
@nl
Seo-Kyung Chung
@sl
type
label
Seo-Kyung Chung
@en
Seo-Kyung Chung
@es
Seo-Kyung Chung
@nl
Seo-Kyung Chung
@sl
prefLabel
Seo-Kyung Chung
@en
Seo-Kyung Chung
@es
Seo-Kyung Chung
@nl
Seo-Kyung Chung
@sl
P106
P21
P31
P496
0000-0002-5008-8384