Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions

被引:13
作者
Concolino, D
Iembo, MA
Rossi, E
Giglio, S
Coppola, G
del Giudice, EM
Strisciuglio, P
机构
[1] Univ Catanzaro Magna Graecia, Dept Paediat, Catanzaro, Italy
[2] Univ Pavia, Dept Gen Biol & Med Genet, Pavia, Italy
[3] Univ Naples 2, Dept Paediat, Naples, Italy
关键词
D O I
10.1136/jmg.39.3.214
中图分类号
Q3 [遗传学];
学科分类号
071007 [遗传学]; 090102 [作物遗传育种];
摘要
引用
收藏
页码:214 / 216
页数:3
相关论文
共 14 条
[1]
BEEMER FA, 1984, CLIN GENET, V26, P209
[2]
A potassium channel mutation in neonatal human epilepsy [J].
Biervert, C ;
Schroeder, BC ;
Kubisch, C ;
Berkovic, SF ;
Propping, P ;
Jentsch, TJ ;
Steinlein, OK .
SCIENCE, 1998, 279 (5349) :403-406
[3]
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family [J].
Charlier, C ;
Singh, NA ;
Ryan, SG ;
Lewis, TB ;
Reus, BE ;
Leach, RJ ;
Leppert, M .
NATURE GENETICS, 1998, 18 (01) :53-55
[4]
No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1 [J].
Gennaro, E ;
Malacarne, M ;
Carbone, I ;
Riggio, MC ;
Bianchi, A ;
Bonanni, P ;
Boniver, C ;
Dalla Bernardina, B ;
De Marco, P ;
Giordano, L ;
Guerrini, R ;
Santorum, E ;
Sebastianelli, R ;
Vecchi, M ;
Veggiotti, P ;
Vigevano, F ;
Bricarelli, FD ;
Zara, F .
EPILEPSIA, 1999, 40 (12) :1799-1803
[5]
Goodart SA, 1996, HUM GENET, V97, P802
[6]
Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q [J].
Guipponi, M ;
Rivier, F ;
Vigevano, F ;
Beck, C ;
Crespel, A ;
Echenne, B ;
Lucchini, P ;
Sebastianelli, R ;
BaldyMoulinier, M ;
Malafosse, A .
HUMAN MOLECULAR GENETICS, 1997, 6 (03) :473-477
[7]
Hirose S, 2000, ANN NEUROL, V47, P822, DOI 10.1002/1531-8249(200006)47:6<822::AID-ANA19>3.3.CO
[8]
2-O
[9]
BENIGN FAMILIAL NEONATAL CONVULSIONS LINKED TO GENETIC-MARKERS ON CHROMOSOME-20 [J].
LEPPERT, M ;
ANDERSON, VE ;
QUATTLEBAUM, T ;
STAUFFER, D ;
OCONNELL, P ;
NAKAMURA, Y ;
LALOUEL, JM ;
WHITE, R .
NATURE, 1989, 337 (6208) :647-648
[10]
LEWIS TB, 1993, AM J HUM GENET, V53, P670