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

Volumn 99, Issue 6, 2016, Pages 1368-1376

  Assoum, Mirna ^a   Philippe, Christophe ^b   Isidor, Bertrand ^c,d   Perrin, Laurence ^e   Makrythanasis, Periklis ^f,g   Sondheimer, Neal ^h   Paris, Caroline ⁱ   Douglas, Jessica ^j   Lesca, Gaetan ^k,l,m   Antonarakis, Stylianos ^f,g   Hamamy, Hanan ^f   Jouan, Thibaud ^a   Duffourd, Yannis ^a,n   Auvin, Stéphane ^e   Saunier, Aline ^b   Begtrup, Amber ^o   Nowak, Catherine ^j   Chatron, Nicolas ^k,l,m   Ville, Dorothée ^k   Mireskandari, Kamiar ^h   Milani, Paolo ^p   Jonveaux, Philippe ^b   Lemeur, Guylène ^c   Milh, Mathieu ^q,r   Amamoto, Masano ^s   Kato, Mitsuhiro ^t   Nakashima, Mitsuko ^u   Miyake, Noriko ^u   Matsumoto, Naomichi ^u   Masri, Amira ^v   Thauvin Robinet, Christel ^a,e,n   Rivière, Jean Baptiste ^a,e   Faivre, Laurence ^a,e,n   Thevenon, Julien ^a,e,n   more..

^a UNIVERSITÉ DE BOURGOGNE   (France)

^b CHU NANCY BRABOIS   (France)

^c NANTES UNIVERSITY HOSPITAL   (France)

^d Universite de Nantes   (France)

^e HÔPITAL ROBERT DEBRÉ   (France)

^f UNIVERSITY OF GENEVA   (Switzerland)

^g GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^h HOSPITAL FOR SICK CHILDREN   (Canada)

ⁱ UNIVERSITY HOSPITAL JEAN MINJOZ   (France)

^j BOSTON CHILDREN S HOSPITAL   (United States)

^k HOSPICES CIVILS DE LYON   (France)

^l UNIVERSITÉ DE LYON   (France)

^m Univ Lyon   (France)

ⁿ DIJON UNIVERSITY HOSPITAL   (France)

^o GENEDX   (United States)

^p HÔPITAL LARIBOISIÈRE   (France)

^q TIMONE HOSPITAL   (France)

^r AIX MARSEILLE UNIVERSITY   (France)

^s Kitakyushu Municipal Yahata Hospital   (Japan)

^t SHOWA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^u YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^v UNIVERSITY OF JORDAN   (Jordan)

more..

Author keywords

AP3B2; developmental delay; EOEE syndrome; epilepsy; microcephaly; optic atrophy

Indexed keywords

ADAPTOR PROTEIN; ADAPTOR RELATED PROTEIN COMPLEX 3 BETA 2 SUBUNIT; UNCLASSIFIED DRUG; AP3B2 PROTEIN, HUMAN; BETA ADAPTIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; DISEASE ASSOCIATION; EARLY ONSET EPILEPTIC ENCEPHALOPATHY; EPILEPSY; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; GENETIC VARIABILITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; NEWBORN; ONSET AGE; OPTIC NERVE ATROPHY; PHENOTYPE; PRIORITY JOURNAL; CHILD; COMPLICATION; DEVELOPMENTAL DISORDER; GENETICS; MUTATION; PEDIGREE; PRESCHOOL CHILD; RECESSIVE GENE; SYNDROME;

ADAPTOR PROTEIN COMPLEX 3; ADAPTOR PROTEIN COMPLEX BETA SUBUNITS; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EPILEPSY; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MICROCEPHALY; MUTATION; OPTIC ATROPHY; PEDIGREE; SYNDROME;

EID: 85004109098     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.10.009     Document Type: Article

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