Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A

被引:25
作者
Pereira, S
Vieira, JP
Barroca, F
Roll, P
Carvalhas, R
Cau, P
Sequeira, S
Genton, P
Szepetowski, P
机构
[1] Fac Med Timone, INSERM, U491, F-13385 Marseille, France
[2] Dona Estefania Hosp, Lisbon, Portugal
[3] St Paul Ctr, Marseille, France
[4] AP HM, Marseille, France
关键词
D O I
10.1212/01.WNL.0000132844.20654.C1
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:191 / 192
页数:3
相关论文
共 7 条
[1]   De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy [J].
Claes, L ;
Del-Favero, J ;
Ceulemans, B ;
Lagae, L ;
Van Broeckhoven, C ;
De Jonghe, P .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (06) :1327-1332
[2]   The mouse fidgetin gene defines a new role for AAA family proteins in mammalian development [J].
Cox, GA ;
Mahaffey, CL ;
Nystuen, A ;
Letts, VA ;
Frankel, WN .
NATURE GENETICS, 2000, 26 (02) :198-202
[3]   Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 [J].
Escayg, A ;
MacDonald, BT ;
Meisler, MH ;
Baulac, S ;
Huberfeld, G ;
An-Gourfinkel, I ;
Brice, A ;
LeGuern, E ;
Moulard, B ;
Chaigne, D ;
Buresi, C ;
Malafosse, A .
NATURE GENETICS, 2000, 24 (04) :343-345
[4]   Sodium-channel defects in benign familial neonatal-infantile seizures [J].
Heron, SE ;
Crossland, KM ;
Andermann, E ;
Phillips, HA ;
Hall, AJ ;
Bleasel, A ;
Shevell, M ;
Mercho, S ;
Seni, MH ;
Guiot, MC ;
Mulley, JC ;
Berkovic, SF ;
Scheffer, IE .
LANCET, 2002, 360 (9336) :851-852
[5]  
Nixon J, 1997, AM J MED GENET, V70, P324
[6]   5 CHILDREN WITH DEL-(2)(Q31Q33) AND ONE INDIVIDUAL WITH DUP-(2)(Q31Q33) FROM A SINGLE FAMILY - REVIEW OF BRAIN, CARDIAC, AND LIMB MALFORMATIONS [J].
RAMER, JC ;
MOWREY, PN ;
ROBINS, DB ;
LIGATO, S ;
TOWFIGHI, J ;
LADDA, RL .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 37 (03) :392-400
[7]  
SCHEFFER IE, TRENDS PHARM SCI, V24, P428