DE NOVO MUTATIONS OF KIAA2022 IN FEMALES CAUSE INTELLECTUAL DISABILITY AND INTRACTABLE EPILEPSY

被引：0

作者：

De lange, I ^{[1
]}

Helbig, K. ^{[2
]}

Weckhuysen, S. ^{[3
,4
,5
]}

Moller, R. ^{[6
,7
]}

Velinov, M. ^{[8
]}

Dolzhanskaya, N. ^{[8
]}

Marsh, E. ^{[9
]}

Helbig, I ^{[9
]}

Devinsky, O. ^{[10
]}

Tang, S. ^{[2
]}

Mefford, H. ^{[11
]}

Myers, C. ^{[11
]}

Van Paesschen, W. ^{[12
]}

Striano, P. ^{[13
]}

Van Gassen, K. ^{[1
]}

Van Kempen, M. ^{[1
]}

De Kovel, C. ^{[1
]}

Piard, J. ^{[14
]}

Minassian, B. ^{[15
,16
]}

Nezarati, M. ^{[17
]}

Pessoa, A. ^{[18
]}

Jacquette, A. ^{[19
]}

Van't Slot, R. ^{[1
]}

Van Maldergem, L. ^{[14
]}

Brilstra, E. ^{[1
]}

Koeleman, B. ^{[1
]}

机构：

[1] Univ Med Ctr Utrecht, Utrecht, Netherlands

[2] Ambry Genet, Aliso Viejo, CA USA

[3] VIB, Antwerp, Belgium

[4] Univ Antwerp, Inst Born Bunge, Antwerp, Belgium

[5] Univ Hosp Antwerp, Antwerp, Belgium

[6] Danish Epilepsy Ctr, Dianalund, Denmark

[7] Univ Southern Denmark, Inst Reg Hlth Serv, Odense, Denmark

[8] New York State Inst Basic Res Dev Disabil, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA

[9] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA

[10] NYU, Langone Med Ctr, New York, NY USA

[11] Univ Washington, Seattle, WA 98195 USA

[12] UZ Leuven, Leuven, Belgium

[13] Univ Genoa, G Gaslini Inst, Genoa, Italy

[14] Univ Franche Comte, Besancon, France

[15] Hosp Sick Children, Toronto, ON, Canada

[16] Univ Toronto, Toronto, ON, Canada

[17] Mt Sinai Hosp, Toronto, ON, Canada

[18] Univ Fortaleza, Fortaleza, Ceara, Brazil

[19] Univ Paris 06, Paris, France

来源：

EPILEPSIA | 2016年 / 57卷

关键词：

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

P367

引用

页码：113 / 114

页数：2

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[1] De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
de Lange, Iris M.
Helbig, Katherine L.
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Warde, Marie Therese Abi
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