Concepedia

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

Carolien G. F. de Kovel, Miriam H. Meisler, Eva H. Brilstra, Frédérique M.C. van Berkestijn, Ruben van ‘t Slot, Stef van Lieshout, Isaäc J. Nijman, Janelle E. O’Brien, Michael F. Hammer, Mark Estación,

Epilepsy Research · 2014 · 101 citations · 30 references

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30

De novo mutations in epileptic encephalopathies

Nature · 2013 · 1.6K citations · Full text

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

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Distinct contributions of Nav1.6 and Nav1.2 in action potential initiation and backpropagation

Wenqin Hu, Cuiping Tian, Tun Li et al. · Nature Neuroscience · 2009 · 732 citations

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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle et al. · Nature Genetics · 2013 · 694 citations · Full text

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De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

Krishna R. Veeramah, Janelle E. O’Brien, Miriam H. Meisler et al. · The American Journal of Human Genetics · 2012 · 439 citations · Full text

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