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 · 303 citations · Full text

Medicine, Genetics, Molecular Genetics +14

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 · 236 citations · Full text

Life Sciences, Genetics, Neuroscience +11

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 · 234 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

Thomas D. Cushion, William B. Dobyns, Jonathan G.L. Mullins et al. · Brain · 2013 · 151 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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 et al. · The American Journal of Human Genetics · 2014 · 123 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14