Ontology highlight
ABSTRACT:
SUBMITTER: Epi4K Consortium
PROVIDER: S-EPMC3773011 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Allen Andrew S AS Berkovic Samuel F SF Cossette Patrick P Delanty Norman N Dlugos Dennis D Eichler Evan E EE Epstein Michael P MP Glauser Tracy T Goldstein David B DB Han Yujun Y Heinzen Erin L EL Hitomi Yuki Y Howell Katherine B KB Johnson Michael R MR Kuzniecky Ruben R Lowenstein Daniel H DH Lu Yi-Fan YF Madou Maura R Z MR Marson Anthony G AG Mefford Heather C HC Esmaeeli Nieh Sahar S O'Brien Terence J TJ Ottman Ruth R Petrovski Slavé S Poduri Annapurna A Ruzzo Elizabeth K EK Scheffer Ingrid E IE Sherr Elliott H EH Yuskaitis Christopher J CJ Abou-Khalil Bassel B Alldredge Brian K BK Bautista Jocelyn F JF Berkovic Samuel F SF Boro Alex A Cascino Gregory D GD Consalvo Damian D Crumrine Patricia P Devinsky Orrin O Dlugos Dennis D Epstein Michael P MP Fiol Miguel M Fountain Nathan B NB French Jacqueline J Friedman Daniel D Geller Eric B EB Glauser Tracy T Glynn Simon S Haut Sheryl R SR Hayward Jean J Helmers Sandra L SL Joshi Sucheta S Kanner Andres A Kirsch Heidi E HE Knowlton Robert C RC Kossoff Eric H EH Kuperman Rachel R Kuzniecky Ruben R Lowenstein Daniel H DH McGuire Shannon M SM Motika Paul V PV Novotny Edward J EJ Ottman Ruth R Paolicchi Juliann M JM Parent Jack M JM Park Kristen K Poduri Annapurna A Scheffer Ingrid E IE Shellhaas Renée A RA Sherr Elliott H EH Shih Jerry J JJ Singh Rani R Sirven Joseph J Smith Michael C MC Sullivan Joseph J Lin Thio Liu L Venkat Anu A Vining Eileen P G EP Von Allmen Gretchen K GK Weisenberg Judith L JL Widdess-Walsh Peter P Winawer Melodie R MR
Nature 20130811 7466
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). We sequenced the exomes of 264 probands, and their parents, and confirmed 329 de novo mutations. A likelihood analysis showed a significant excess of de novo mutations in the ∼4,000 genes that are the ...[more]