De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

Journal of Medical Genetics

Volumn 53, Issue 12, 2016, Pages 850-858

  de Lange, Iris M ^a   Helbig, Katherine L ^b   Weckhuysen, Sarah ^c,d,e   Møller, Rikke S ^f,g   Velinov, Milen ^h,i   Dolzhanskaya, Natalia ^h,i   Marsh, Eric ^j   Helbig, Ingo ^j,ab   Devinsky, Orrin ^k   Tang, Sha ^b   Mefford, Heather C ^l   Myers, Candace T ^l   van Paesschen, Wim ^m   Striano, Pasquale ⁿ   van Gassen, Koen ^a   van Kempen, Marjan ^a   de Kovel, Carolien G F ^a   Piard, Juliette ^o   Minassian, Berge A ^p   Nezarati, Marjan M ^q   Pessoa, André ^r   Jacquette, Aurelia ^s   Maher, Bridget ^t,u   Balestrini, Simona ^t,u   Sisodiya, Sanjay ^t,u   Warde, Marie Therese Abi ^v,w   De St Martin, Anne ^v,w   Chelly, Jamel ^w,x   van 't Slot, Ruben ^a   Van Maldergem, Lionel ^o   Brilstra, Eva H ^a   Koeleman, Bobby P C ^a   Craiu, ^y   Davila, Carol ^z   Obregia, Alexandru ^aa   De Jonghe, Peter ^d   Guerrini, Renzo ^ac   Lehesjoki, Anna Elina ^ad,ae   Marini, Carla ^ac   Muhle, Hiltrud ^ab   Neubauer, Bernd ^af   Pal, Deb ^ag   Selmer, Kaja ^ah   Stephani, Ulrich ^ab   Sterbova, Katalin ^ai   Talvik, Tiina ^aj,ak   von Spiczak, Sarah ^ab   Caglayan, Hande ^al   Weber, Yvonne ^am   Hoffman Zacharska, Dorota ^an   more..

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b AMBRY GENETICS   (United States)

^c SORBONNE UNIVERSITÉ   (France)

^d DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^e UNIVERSITY OF ANTWERP   (Belgium)

^f DANISH EPILEPSY CENTRE   (Denmark)

^g UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^h NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

ⁱ ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^j CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^k NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^l UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^m UNIVERSITY HOSPITALS LEUVEN   (Belgium)

ⁿ UNIVERSITY OF GENOA   (Italy)

^o UNIVERSITÉ DE FRANCHE COMTÉ   (France)

^p HOSPITAL FOR SICK CHILDREN   (Canada)

^q MOUNT SINAI HOSPITAL   (Canada)

^r UNIVERSITY OF FORTALEZA   (Brazil)

^s PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^t UNIVERSITY COLLEGE LONDON   (United Kingdom)

^u EPILEPSY SOCIETY   (United Kingdom)

^v UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^w UNIVERSITÉ DE STRASBOURG   (France)

^x HÔPITAL CIVIL   (France)

^y Department of Neurology   (Romania)

^z CAROL DAVILA UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^aa Hippocrat 2000 Clinic   (Romania)

^ab UNIVERSITY OF KIEL   (Germany)

^ac UNIVERSITY OF FLORENCE   (Italy)

^ad FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^ae UNIVERSITY OF HELSINKI   (Finland)

^af JUSTUS LIEBIG UNIVERSITY GIESSEN   (Germany)

^ag KING'S COLLEGE LONDON   (United Kingdom)

^ah OSLO UNIVERSITY HOSPITAL   (Norway)

^ai UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^aj UNIVERSITY OF TARTU   (Estonia)

^ak TARTU UNIVERSITY HOSPITAL   (Estonia)

^al BOGAZICI UNIVERSITY   (Turkey)

^am UNIVERSITY OF TÜBINGEN   (Germany)

^an INSTITUTE OF MOTHER AND CHILD   (Poland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN KIAA2022; UNCLASSIFIED DRUG; NERVE PROTEIN; STOP CODON; XPN PROTEIN, HUMAN;

ADULT; ARTICLE; BEHAVIOR DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FACE DYSMORPHIA; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; INTRACTABLE EPILEPSY; MICROCEPHALY; MIDDLE AGED; MOSAICISM; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; X CHROMOSOME INACTIVATION; ADOLESCENT; DRUG RESISTANT EPILEPSY; GENETICS; METABOLISM; STOP CODON; SYNDROME; X CHROMOSOMAL INHERITANCE; X CHROMOSOME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; CODON, NONSENSE; DRUG RESISTANT EPILEPSY; FEMALE; FRAMESHIFT MUTATION; GENES, X-LINKED; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MIDDLE AGED; MOSAICISM; NERVE TISSUE PROTEINS; SYNDROME; X CHROMOSOME INACTIVATION;

EID: 84978982755     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2016-103909     Document Type: Article

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