Article
De novo mutations in epileptic encephalopathies.
Nature - 12 Sept 2013
Allen Andrew S, Berkovic Samuel F, Cossette Patrick, Delanty Norman, Dlugos Dennis, Eichler Evan E, Epstein Michael P, Glauser Tracy, Goldstein David B, Han Yujun, Heinzen Erin L, Hitomi Yuki, Howell Katherine B, Johnson Michael R, Kuzniecky Ruben, Lowenstein Daniel H, Lu Yi-Fan, Madou Maura R Z, Marson Anthony G, Mefford Heather C, Esmaeeli Nieh Sahar, O'Brien Terence J, Ottman Ruth, Petrovski Slavé, Poduri Annapurna, Ruzzo Elizabeth K, Scheffer Ingrid E, Sherr Elliott H, Yuskaitis Christopher J, Abou-Khalil Bassel, Alldredge Brian K, Bautista Jocelyn F, Berkovic Samuel F, Boro Alex, Cascino Gregory D, Consalvo Damian, Crumrine Patricia, Devinsky Orrin, Dlugos Dennis, Epstein Michael P, Fiol Miguel, Fountain Nathan B, French Jacqueline, Friedman Daniel, Geller Eric B, Glauser Tracy, Glynn Simon, Haut Sheryl R, Hayward Jean, Helmers Sandra L, Joshi Sucheta, Kanner Andres, Kirsch Heidi E, Knowlton Robert C, Kossoff Eric H, Kuperman Rachel, Kuzniecky Ruben, Lowenstein Daniel H, McGuire Shannon M, Motika Paul V, Novotny Edward J, Ottman Ruth, Paolicchi Juliann M, Parent Jack M, Park Kristen, Poduri Annapurna, Scheffer Ingrid E, Shellhaas Renée A, Sherr Elliott H, Shih Jerry J, Singh Rani, Sirven Joseph, Smith Michael C, Sullivan Joseph, Lin Thio Liu, Venkat Anu, Vining Eileen P G, Von Allmen Gretchen K, Weisenberg Judith L, Widdess-Walsh Peter, Winawer Melodie R
Abstract excerpt
Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here we report a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms (n = 149) and Lennox-Gastaut syndrome (n = 115)...
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