Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy
ContributorsAssoum, Mirna; Philippe, Christophe; Isidor, Bertrand; Perrin, Laurence; Makrythanasis, Periklis; Sondheimer, Neal; Paris, Caroline; Douglas, Jessica; Lesca, Gaetan; Antonarakis, Stylianos; Jouan, Thibaud; Duffourd, Yannis; Auvin, Stéphane; Saunier, Aline; Begtrup, Amber; Nowak, Catherine; Chatron, Nicolas; Ville, Dorothée; Mireskandari, Kamiar; Milani, Paolo; Jonveaux, Philippe; Lemeur, Guylène; Milh, Mathieu; Amamoto, Masano; Kato, Mitsuhiro; Nakashima, Mitsuko; Miyake, Noriko; Matsumoto, Naomichi; Masri, Amira; Thauvin-Robinet, Christel; Rivière, Jean-Baptiste; Faivre, Laurence; Thevenon, Julien
Published inAmerican journal of human genetics, vol. 99, no. 6, p. 1368-1376
Publication date2016
Abstract
Citation (ISO format)
ASSOUM, Mirna et al. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. In: American journal of human genetics, 2016, vol. 99, n° 6, p. 1368–1376. doi: 10.1016/j.ajhg.2016.10.009
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Article (Published version)
Identifiers
- PID : unige:90730
- DOI : 10.1016/j.ajhg.2016.10.009
- PMID : 27889060
ISSN of the journal0002-9297