Seo-kyung T. Chung

Swansea, WLS, United Kingdom

Last Updated: 09/26/2026

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Found 27 publications

A synonymous SLC2A1 variant causes familial epilepsy and paroxysmal exercise-induced dyskinesia by creating aberrant mosaic splicing patterns.

A synonymous SLC2A1 variant causes familial epilepsy and paroxysmal exercise-induced dyskinesia by creating aberrant mosaic splicing patterns.

Journal: Neurobiology of disease
Published: May 19, 2025

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.

Journal: American journal of human genetics
Published: July 19, 2024

Genetic influences on epilepsy outcomes: A whole-exome sequencing and health care records data linkage study.

Genetic influences on epilepsy outcomes: A whole-exome sequencing and health care records data linkage study.

Journal: Epilepsia
Published: June 12, 2023

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Journal: medRxiv : the preprint server for health sciences
Published: March 03, 2023

Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells.

Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells.

Journal: Stem cells international
Published: July 25, 2021

Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.

Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.

Journal: American journal of human genetics
Published: August 12, 2020

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

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

Journal: Brain : a journal of neurology
Published: May 31, 2018

Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Journal: Brain : a journal of neurology
Published: April 17, 2018

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.

Journal: Brain : a journal of neurology
Published: September 25, 2017

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

Journal: Brain : a journal of neurology
Published: July 16, 2017

Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients.

Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients.

Journal: Brain & development
Published: July 28, 2016

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

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

Journal: BMC medical genetics
Published: October 20, 2015
Showing 1-12 of 27

Last Updated: 09/26/2026