Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
作者： Gemma L Carvill , Sinéad B Heavin , Simone C Yendle , Jacinta M McMahon , Brian J O'Roak
DOI: 10.1038/NG.2646
关键词:
摘要: Epileptic encephalopathies are a devastating group of epilepsies with poor prognosis, which the majority unknown etiology. We perform targeted massively parallel resequencing 19 known and 46 candidate genes for epileptic encephalopathy in 500 affected individuals (cases) to identify new involved investigate phenotypic spectrum associated mutations genes. Overall, we identified pathogenic 10% our cohort. Six had 1 or more variants, collectively accounting 3% show that de novo CHD2 SYNGAP1 causes encephalopathies, 1.2% 1% cases, respectively. also expand spectra explained by SCN1A, SCN2A SCN8A mutations. To knowledge, this is largest cohort cases undergo resequencing. Implementation rapid efficient method will change diagnosis understanding molecular etiologies these disorders.
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Andrew Escayg, Bryan T. MacDonald, Miriam H. Meisler, Stéphanie Baulac, Gilles Huberfeld, Isabelle An-Gourfinkel, Alexis Brice, Eric LeGuern, Bruno Moulard, Denys Chaigne, Catherine Buresi, Alain Malafosse, Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nature Genetics. ,vol. 24, pp. 343- 345 ,(2000) , 10.1038/74159
N Hoppman-Chaney, K Wain, PR Seger, DW Superneau, JC Hodge, Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype. Clinical Genetics. ,vol. 83, pp. 345- 351 ,(2013) , 10.1111/J.1399-0004.2012.01925.X
Megan Oliva, Samuel F. Berkovic, Steven Petrou, Sodium channels and the neurobiology of epilepsy. Epilepsia. ,vol. 53, pp. 1849- 1859 ,(2012) , 10.1111/J.1528-1167.2012.03631.X
Krishna R. Veeramah, Janelle E. O'Brien, Miriam H. Meisler, Xiaoyang Cheng, Sulayman D. Dib-Hajj, Stephen G. Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E. Eichler, Linda L. Restifo, Robert P. Erickson, Michael F. Hammer, De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP American Journal of Human Genetics. ,vol. 90, pp. 502- 510 ,(2012) , 10.1016/J.AJHG.2012.01.006
Radhika Dhamija, Galen Breningstall, Lily Wong-Kisiel, Michelle Dolan, Betsy Hirsch, Elaine Wirrell, Microdeletion of Chromosome 15q26.1 in a Child With Intractable Generalized Epilepsy Pediatric Neurology. ,vol. 45, pp. 60- 62 ,(2011) , 10.1016/J.PEDIATRNEUROL.2011.02.002
B. J. O'Roak, L. Vives, W. Fu, J. D. Egertson, I. B. Stanaway, I. G. Phelps, G. Carvill, A. Kumar, C. Lee, K. Ankenman, J. Munson, J. B. Hiatt, E. H. Turner, R. Levy, D. R. O'Day, N. Krumm, B. P. Coe, B. K. Martin, E. Borenstein, D. A. Nickerson, H. C. Mefford, D. Doherty, J. M. Akey, R. Bernier, E. E. Eichler, J. Shendure, Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. ,vol. 338, pp. 1619- 1622 ,(2012) , 10.1126/SCIENCE.1227764
Fadi F Hamdan, Julie Gauthier, Dan Spiegelman, Anne Noreau, Yan Yang, Stéphanie Pellerin, Sylvia Dobrzeniecka, Mélanie Côté, Elizabeth Perreau-Linck, Lionel Carmant, Guy D'anjou, Éric Fombonne, Anjene M Addington, Judith L Rapoport, Lynn E Delisi, Marie-Odile Krebs, Faycal Mouaffak, Ridha Joober, Laurent Mottron, Pierre Drapeau, Claude Marineau, Ronald G Lafrenière, Jean Claude Lacaille, Guy A Rouleau, Jacques L Michaud, None, Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. The New England Journal of Medicine. ,vol. 360, pp. 599- 605 ,(2009) , 10.1056/NEJMOA0805392
Mario Mastrangelo, Vincenzo Leuzzi, Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes. Pediatric Neurology. ,vol. 53, pp. 24- 31 ,(2012) , 10.1016/J.PEDIATRNEUROL.2011.11.003
E J Marco, F E Abidi, J Bristow, W B Dean, P Cotter, R J Jeremy, C E Schwartz, E H Sherr, ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. Case Reports. ,vol. 2009, pp. 215704- 215704 ,(2009) , 10.1136/BCR.06.2009.1999
Sarah E Heron, Katherine R Smith, Melanie Bahlo, Lino Nobili, Esther Kahana, Laura Licchetta, Karen L Oliver, Aziz Mazarib, Zaid Afawi, Amos Korczyn, Giuseppe Plazzi, Steven Petrou, Samuel F Berkovic, Ingrid E Scheffer, Leanne M Dibbens, Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy Nature Genetics. ,vol. 44, pp. 1188- 1190 ,(2012) , 10.1038/NG.2440