Concepedia

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Gemma L. Carvill, Jacinta M. McMahon, Amy Schneider, Matthew Zemel, Candace T. Myers, Julia Saykally, John Nguyen, Angela Robbiano, Federico Zara, Nicola Specchio,

The American Journal of Human Genetics · 2015 · 226 citations · 35 references

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35

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009

Anne T. Berg, Samuel F. Berkovic, Martin J. Brodie et al. · Epilepsia · 2010 · 4.4K citations

, , +17

Amino Acid Difference Formula to Help Explain Protein Evolution

Richard Grantham · Science · 1974 · 2.4K citations

, , +17

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Stephan Sanders, Michael T. Murtha, Abha R. Gupta et al. · Nature · 2012 · 2.2K citations

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De novo mutations in epileptic encephalopathies

Nature · 2013 · 1.6K citations · Full text

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Transcriptional landscape of the prenatal human brain

Jeremy A. Miller, Song‐Lin Ding, Susan M. Sunkin et al. · Nature · 2014 · 1.4K citations · Full text

, , +14