Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1

Bayés, 2003, Mutational mechanisms of Williams-Beuren syndrome deletions, Am. J. Hum. Genet., 73, 131, 10.1086/376565 Carvill, 2014, GABRA1 and STXBP1: novel genetic causes of Dravet syndrome, Neurology, 82, 1245, 10.1212/WNL.0000000000000291 Epi4K Consortium, Epilepsy Phenome/Genome Project, 2013, De novo mutations in epileptic encephalopathies, Nature, 501, 217, 10.1038/nature12439 Fromer, 2012, Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth, Am. J. Hum. Genet., 91, 597, 10.1016/j.ajhg.2012.08.005 Fusco, 2014, Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits, Eur. J. Hum. Genet., 22, 64, 10.1038/ejhg.2013.101 Iossifov, 2014, The contribution of de novo coding mutations to autism spectrum disorder, Nature, 515, 216, 10.1038/nature13908 Kiefer, 2009, The SWISS-MODEL Repository and associated resources, Nucleic Acids Res., 37, D387, 10.1093/nar/gkn750 Kodera, 2016, De novo GABRA1 mutations in Ohtahara and West syndromes, Epilepsia, 57, 566, 10.1111/epi.13344 Komoike, 2010, Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly, Genesis, 48, 233 Krumm, 2012, Copy number variation detection and genotyping from exome sequence data, Genome Res., 22, 1525, 10.1101/gr.138115.112 Lachance-Touchette, 2011, Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy, Eur. J. Neurosci., 34, 237, 10.1111/j.1460-9568.2011.07767.x Li, 2013 Li, 2016, Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database, Mol. Psychiatry, 21, 290, 10.1038/mp.2015.40 Maljevic, 2006, A mutation in the GABAA receptor α1-subunit is associated with absence epilepsy, Ann. Neurol., 59, 983, 10.1002/ana.20874 Marshall, 2008, Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11, Am. J. Hum. Genet., 83, 106, 10.1016/j.ajhg.2008.06.001 McRae, 2016 Nicita, 2016, Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region, Am. J. Med. Genet. A, 170, 148, 10.1002/ajmg.a.37410 Ramocki, 2010, Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems, Am. J. Hum. Genet., 87, 857, 10.1016/j.ajhg.2010.10.019 Robinson, 2011, Integrative genomics viewer, Nat. Biotechnol., 29, 24, 10.1038/nbt.1754 Samanta, 2016, Infantile spasms in Williams-Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature, Acta Neurol. Belg. Schubert, 2009, The genomic basis of the Williams-Beuren syndrome, Cell. Mol. Life Sci. CMLS, 66, 1178, 10.1007/s00018-008-8401-y Sigel, 2012, Structure, function, and modulation of GABAA, Recept. J. Biol. Chem., 287, 40224, 10.1074/jbc.R112.386664 Tian, 2013, Impaired surface αβγ GABAA receptor expression in familial epilepsy due to a GABRG2 frameshift mutation, Neurobiol. Dis., 50, 135, 10.1016/j.nbd.2012.10.008 Urbán, 1996, 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover, Am. J. Hum. Genet., 59, 958 Wang, 2010, ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data, Nucleic Acids Res., 38, e164, 10.1093/nar/gkq603 Wei, 2011, SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data, Nucleic Acids Res., 39, e132, 10.1093/nar/gkr599 Yang, 2013, Clinical whole-exome sequencing for the diagnosis of Mendelian disorders, N. Engl. J. Med., 369, 1502, 10.1056/NEJMoa1306555