Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy Mirna Assoum, Christophe Philippe, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, Caroline Paris, Jessica Douglas, Gaetan Lesca, Stylianos Antonarakis, Hanan Hamamy, Thibaud Jouan, Yannis Duffourd, Stéphane Auvin, Aline Saunier, Amber Begtrup, Catherine Nowak, Nicolas Chatron, Dorothée Ville, Kamiar Mireskandari, Paolo Milani, Philippe Jonveaux, Guylène Lemeur, Mathieu Milh, Masano Amamoto, Mitsuhiro Kato, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto, Amira Masri, Christel Thauvin-Robinet, Jean-Baptiste Rivière, Laurence Faivre, Julien Thevenon The American Journal of Human Genetics Volume 99, Issue 6, Pages 1368-1376 (December 2016) DOI: 10.1016/j.ajhg.2016.10.009 Copyright © 2016 American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of the Eight Families Affected by AP3B2 Mutations Asterisks (∗) point to the individuals who underwent whole-exome sequencing. The identified AP3B2 variants were searched in all available relatives. “mut/mut” and “mut/−” refer to homozygous or compound-heterozygous individuals and heterozygous carriers of AP3B2 mutations, respectively. “−/−” indicates individuals for whom no AP3B2 mutation was identified. The American Journal of Human Genetics 2016 99, 1368-1376DOI: (10.1016/j.ajhg.2016.10.009) Copyright © 2016 American Society of Human Genetics Terms and Conditions