Epi4K: Gene Discovery in 4,000 Epilepsy Genomes

De novo mutations in the classic epileptic encephalopathies

Andrew S. Samuel F. Patrick Norman Dennis Evan E. Michael Allen Berkovic Cossette Delanty Dlugos Eichler Eps, A. Allen, S. Berkovic, et al.. (2013). Nature. Cited 1,071 times. https://doi.org/10.1038/nature12439

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.

S. Appenzeller, R. Balling, N. Barišić, et al.. (2017). American journal of human genetics. Cited 304 times. https://doi.org/10.1016/j.ajhg.2016.12.012

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

Candace T. Myers, J. Mcmahon, Amy L. Schneider, et al.. (2016). American journal of human genetics. Cited 256 times. https://doi.org/10.1016/j.ajhg.2016.06.003

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

A. Allen, S. Bellows, S. Berkovic, et al.. (2017). The Lancet Neurology. Cited 207 times. https://doi.org/10.1016/S1474-4422(16)30359-3

Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia

Loïc Broix, Hélène Jagline, Ekaterina L Ivanova, et al.. (2016). Nature genetics. Cited 100 times. https://doi.org/10.1038/ng.3676

Epi4K: Gene discovery in 4,000 genomes

Darcy Mcmullin. (2012). Epilepsia. Cited 72 times. https://doi.org/10.1111/j.1528-1167.2012.03511.x

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

Andrew S. Allen, S. Berkovic, Bradley P. Coe, et al.. (2015). Annals of Neurology. Cited 66 times. https://doi.org/10.1002/ana.24457

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

E. Heinzen, Adam C. O’Neill, Xiaoling Zhu, et al.. (2018). PLoS Genetics. Cited 54 times. https://doi.org/10.1371/journal.pgen.1007281

Phenotypic analysis of 303 multiplex families with common epilepsies

B. Abou-Khalil, Z. Afawi, A. Allen, et al.. (2017). Brain. Cited 27 times. https://doi.org/10.1093/brain/awx129

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

Andrew S Samuel F Joshua Patrick Dennis Michael P Tracy D Allen Berkovic Bridgers Cossette Dlugos Epstein Gl, Andrew S. Allen, S. Berkovic, et al.. (2017). European Journal of Human Genetics. Cited 6 times. https://doi.org/10.1038/ejhg.2017.61