Seo‐Kyung Chung

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

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

Mark I. Rees, Kirsten Harvey, Brian R. Pearce et al. · Nature Genetics · 2006 · 232 citations · Full text

Developmental Biology, Mendelian Disorder, Human Startle Disease +8

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

Andrew S. Allen, Susannah T. Bellows, Samuel F. Berkovic et al. · The Lancet Neurology · 2017 · 232 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Medicine +8

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

Thomas D. Cushion, William B. Dobyns, Jonathan G.L. Mullins et al. · Brain · 2013 · 148 citations · Full text

Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

Seo‐Kyung Chung, Jean-François Vanbellinghen, Jonathan G.L. Mullins et al. · Journal of Neuroscience · 2010 · 122 citations · Full text

Genetics, Molecular Genetics, Disease Gene Identification +16