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

doi:10.1016/j.ajhg.2016.10.009

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Article

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

American journal of human genetics - 1 Dec 2016

Assoum Mirna, Philippe Christophe, Isidor Bertrand, Perrin Laurence, Makrythanasis Periklis, Sondheimer Neal, Paris Caroline, Douglas Jessica, Lesca Gaetan, Antonarakis Stylianos, Hamamy Hanan, 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

Abstract excerpt

Early-onset epileptic encephalopathy (EOEE) represents a heterogeneous group of severe disorders characterized by seizures, interictal epileptiform activity with a disorganized electroencephalography background, developmental regression or retardation, and onset before 1 year of age. Among a cohort of 57 individuals with epileptic encephalopathy, we ascertained two unrelated affected individuals with EOEE...

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PMID: 27889060
DOI: 10.1016/j.ajhg.2016.10.009
PMCID: PMC5142104

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