Publications by authors named "Seo-Kyung Chung"

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Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng, Sheng-Jia Lin, Reza Maroofian, Seo-Kyung Chung, Wendy K Chung

Am J Hum Genet· May 2025

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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Siwei Chen, Bassel W Abou-Khalil, Zaid Afawi, Quratulain Zulfiqar Ali, Elisabetta Amadori, Seo-Kyung Chung

medRxiv· September 2024

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Genetic influences on epilepsy outcomes: A whole-exome sequencing and health care records data linkage study.
Beata Fonferko-Shadrach, Arron S Lacey, Huw Strafford, Carys Jones, Mark Baker, Seo-Kyung Chung

Epilepsia· November 2023

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Evaluation for Retinal Therapy for Variation Assessed in hiPSC Retinal Pigment Epithelial Cells.
Benjamin M Nash, To Ha Loi, Milan Fernando, Amin Sabri, James Robinson, Seo-Kyung Chung

Stem Cells Int· December 2021

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Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Andrew E Fry, Christopher Marra, Anna V Derrick, William O Pickrell, Adam T Higgins, Seo-Kyung Chung

Am J Hum Genet· January 2021

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Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.
Shira Sagie, Tally Lerman-Sagie, Snezana Maljevic, Keren Yosovich, Katja Detert, Seo-Kyung Chung

Brain· July 2018

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Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.
Juliette Piard, George K Essien Umanah, Frederike L Harms, Leire Abalde-Atristain, Daniel Amram, Seo-Kyung Chung

Brain· June 2018

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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Andrew E Fry, Katherine A Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A N Thompson, Seo-Kyung Chung

Brain· March 2018

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A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.
Juliette Piard, George K Essien Umanah, Frederike L Harms, Leire Abalde-Atristain, Daniel Amram, Seo-Kyung Chung

Brain· March 2018

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Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients.
Amira Masri, Seo-Kyung Chung, Mark I Rees

Brain Dev· April 2017

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Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Andrew E Fry, Elliott Rees, Rose Thompson, Kiran Mantripragada, Penny Blake, Seo-Kyung Chung

BMC Med Genet· April 2016

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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
Renske Oegema, Thomas D Cushion, Ian G Phelps, Seo-Kyung Chung, Jennifer C Dempsey

Hum Mol Genet· September 2015

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Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.
Costin Leu, Simona Balestrini, Bridget Maher, Laura Hernández-Hernández, Padhraig Gormley, Seo-Kyung Chung

EBioMedicine· September 2015

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Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.
Fouzia Hmami, Sian-Elin Wood, Sana Chaouki, Abdellah Oulmaati, Mustapha Hida, Seo-Kyung Chung

Epileptic Disord· September 2014

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A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
Ann J Johnston, Jing-Qiong Kang, Wangzhen Shen, William O Pickrell, Thomas D Cushion, Seo-Kyung Chung

Neurobiol Dis· April 2014

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De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
Thomas D Cushion, Alex R Paciorkowski, Daniela T Pilz, Jonathan G L Mullins, Laurie E Seltzer, Seo-Kyung Chung

Am J Hum Genet· April 2014

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Next generation sequencing methodologies--an overview.
William O Pickrell, Mark I Rees, Seo-Kyung Chung

Adv Protein Chem Struct Biol· November 2013

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New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
Anna Bode, Sian-Elin Wood, Jonathan G L Mullins, Angelo Keramidas, Thomas D Cushion, Seo-Kyung Chung

J Biol Chem· November 2013

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Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.
Rhys H Thomas, Seo-Kyung Chung, Sian E Wood, Thomas D Cushion, Cheney J G Drew

Brain· October 2013

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Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.
Victoria M James, Anna Bode, Seo-Kyung Chung, Jennifer L Gill, Maartje Nielsen

Neurobiol Dis· April 2013

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Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy.
Rhys H Thomas, Seo-Kyung Chung, Khalid Hamandi, Mark I Rees, Michael P Kerr

Epilepsy Behav· March 2013

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GLRB is the third major gene of effect in hyperekplexia.
Seo-Kyung Chung, Anna Bode, Thomas D Cushion, Rhys H Thomas, Charlotte Hunt

Hum Mol Genet· March 2013

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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Thomas D Cushion, William B Dobyns, Jonathan G L Mullins, Neil Stoodley, Seo-Kyung Chung

Brain· February 2013

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Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
Eloisa Carta, Seo-Kyung Chung, Victoria M James, Angela Robinson, Jennifer L Gill

J Biol Chem· August 2012

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A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.
Cecilio Giménez, Gonzalo Pérez-Siles, Jaime Martínez-Villarreal, Esther Arribas-González, Esperanza Jiménez, Seo-Kyung Chung

J Biol Chem· August 2012

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