Polyalanine expansion of ARX associated with cryptogenic West syndrome

被引:81
作者
Kato, M
Das, S
Petras, K
Sawaishi, Y
Dobyns, WB
机构
[1] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
[2] Univ Chicago, Dept Neurol, Chicago, IL 60637 USA
[3] Univ Chicago, Dept Pediat, Chicago, IL 60637 USA
[4] Yamagata Univ, Sch Med, Dept Pediat, Yamagata 990, Japan
[5] Akita Univ, Sch Med, Dept Pediat, Akita 010, Japan
关键词
D O I
10.1212/01.WNL.0000068012.69928.92
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:267 / 268
页数:2
相关论文
共 7 条
[1]   PROPOSAL FOR REVISED CLASSIFICATION OF EPILEPSIES AND EPILEPTIC SYNDROMES [J].
不详 .
EPILEPSIA, 1989, 30 (04) :389-399
[2]   ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation [J].
Bienvenu, T ;
Poirier, K ;
Friocourt, G ;
Bahi, N ;
Beaumont, D ;
Fauchereau, F ;
Ben Jeema, L ;
Zemni, R ;
Vinet, MC ;
Francis, F ;
Couvert, P ;
Gomot, M ;
Moraine, C ;
van Bokhoven, H ;
Kalscheuer, V ;
Frints, S ;
Gecz, J ;
Ohzaki, K ;
Chaabouni, H ;
Fryns, JP ;
Desportes, V ;
Beldjord, C ;
Chelly, J .
HUMAN MOLECULAR GENETICS, 2002, 11 (08) :981-991
[3]   Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans [J].
Kitamura, K ;
Yanazawa, M ;
Sugiyama, N ;
Miura, H ;
Iizuka-Kogo, A ;
Kusaka, M ;
Omichi, K ;
Suzuki, R ;
Kato-Fukui, Y ;
Kamiirisa, K ;
Matsuo, M ;
Kamijo, S ;
Kasahara, M ;
Yoshioka, H ;
Ogata, T ;
Fukuda, T ;
Kondo, I ;
Kato, M ;
Dobyns, WB ;
Yokoyama, M ;
Morohashi, K .
NATURE GENETICS, 2002, 32 (03) :359-369
[4]   Epidemiological and clinical studies of West syndrome in Nagasaki Prefecture, Japan [J].
Matsuo, A ;
Matsuzaka, T ;
Tsuru, A ;
Moriuchi, H ;
Nakashita, Y ;
Tanaka, S ;
Baba, C ;
Tomimasu, K .
BRAIN & DEVELOPMENT, 2001, 23 (07) :575-579
[5]   Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy [J].
Stromme, P ;
Mangelsdorf, ME ;
Shaw, MA ;
Lower, KM ;
Lewis, SME ;
Bruyere, H ;
Lütcherath, V ;
Gedeon, AK ;
Wallace, RH ;
Scheffer, IE ;
Turner, G ;
Partington, M ;
Frints, SGM ;
Fryns, JP ;
Sutherland, GR ;
Mulley, JC ;
Gécz, J .
NATURE GENETICS, 2002, 30 (04) :441-445
[6]   Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX [J].
Stromme, P ;
Mangelsdorf, ME ;
Scheffer, IE ;
Gécz, J .
BRAIN & DEVELOPMENT, 2002, 24 (05) :266-268
[7]  
West W. J., 1841, LANCET, V35, P724, DOI [DOI 10.1016/S0140-6736(00)40184-4, 10.1016/S0140-6736(00)40184-4]