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LANCET NEUROLOGY, ISSN 1474-4422, 08/2018, Volume 17, Issue 8, pp. 657 - U3
William Lennox studied twins with epilepsy as early as the 1930s and found a high concordance rate between monozygotic twins; later twin studies confirmed his... 
CLINICAL NEUROLOGY | TWINS | MUTATION | Epilepsy, Generalized - genetics | Exome | Epilepsy | Humans | Receptors, GABA-A - genetics | Case-Control Studies | Studies | γ-Aminobutyric acid | Genomes | Genes
Journal Article
Science Translational Medicine, ISSN 1946-6234, 06/2014, Volume 6, Issue 239, pp. 239 - 239ec99
Journal Article
Science Translational Medicine, ISSN 1946-6234, 11/2014, Volume 6, Issue 263, pp. 263 - 263ec200
Journal Article
Journal Article
Science Translational Medicine, ISSN 1946-6234, 01/2015, Volume 7, Issue 269, pp. 269 - 269ec4
Journal Article
Science Translational Medicine, ISSN 1946-6234, 10/2014, Volume 6, Issue 257, pp. 257 - 257ec173
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2018, Volume 176, Issue 11, pp. 2425 - 2429
Journal Article
Nature Reviews Neurology, ISSN 1759-4758, 09/2014, Volume 10, Issue 9, pp. 490 - 491
Copy number variants (CNVs; deletions or duplications of chromosomal regions) have emerged as an important cause of human disease. In a recent study, epilepsy... 
15Q13.3 MICRODELETIONS | HUMAN GENOME | IDIOPATHIC GENERALIZED EPILEPSY | 16P13.11 PREDISPOSE | COPY NUMBER VARIANTS | CLINICAL NEUROLOGY | Humans | Chromosome Disorders - complications | Epilepsy - genetics | Female | Male | DNA Copy Number Variations - genetics | Epilepsy - etiology | Index Medicus
Journal Article
Science Translational Medicine, ISSN 1946-6234, 04/2014, Volume 6, Issue 233, pp. 233 - 233ec72
Journal Article
Science, ISSN 0036-8075, 12/2012, Volume 338, Issue 6114, pp. 1619 - 1622
Journal Article
The Lancet Neurology, ISSN 1474-4422, 08/2018, Volume 17, Issue 8, pp. 657 - 658
Journal Article
by Mefford, Heather C and Sharp, Andrew J and Baker, Carl and Itsara, Andy and Jiang, Zhaoshi and Buysse, Karen and Huang, Shuwen and Maloney, Viv K and Crolla, John A and Baralle, Diana and Collins, Amanda and Mercer, Catherine and Norga, Koen and de Ravel, Thomy and Devriendt, Koen and Bongers, Ernie M.H.F and de Leeuw, Nicole and Reardon, William and Gimelli, Giorgio and Gimelli, Stefania and Bena, Frederique and Hennekam, Raoul C and Male, Alison and Gaunt, Lorraine and Clayton-Smith, Jill and Simonic, Ingrid and Park, Soo Mi and Mehta, Sarju G and Nik-Zainal, Serena and Woods, C. Geoffrey and Firth, Helen V and Parkin, Georgina and Fichera, Marco and Reitano, Santina and Giudice, Mariangela Lo and Li, Kelly E and Casuga, Iris and Broomer, Adam and Conrad, Bernard and Schwerzmann, Markus and Räber, Lorenz and Gallati, Sabina and Striano, Pasquale and Coppola, Antonietta and Tolmie, John L and Tobias, Edward S and Lilley, Chris and Armengol, Lluis and Spysschaert, Yves and Verloo, Patrick and De Coene, Anja and Goossens, Linde and Mortier, Geert and Speleman, Frank and van Binsbergen, Ellen and Nelen, Marcel R and Hochstenbach, Ron and Poot, Martin and Gallagher, Louise and Gill, Michael and McClellan, Jon and King, Mary-Claire and Regan, Regina and Skinner, Cindy and Stevenson, Roger E and Antonarakis, Stylianos E and Chen, Caifu and Estivill, Xavier and Menten, Björn and Gribble, Susan and Schwartz, Charles E and Schwartz, Stuart and Sutcliffe, James S and Walsh, Tom and Knight, Samantha J.L and Sebat, Jonathan and Romano, Corrado and Veltman, Joris A and de Vries, Bert B.A and Vermeesch, Joris R and Barber, John C.K and Willatt, Lionel and Tassabehji, May and Eichler, Evan E
The New England Journal of Medicine, ISSN 0028-4793, 10/2008, Volume 359, Issue 16, pp. 1685 - 1699
This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a... 
Genotype & phenotype | Pediatrics | Pathology | Molecular biology | Chromosomes | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 10, pp. 1063 - 1071
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2013, Volume 45, Issue 7, pp. 825 - 830
Journal Article