De novo KCNQ2 mutations in patients with benign neonatal seizures

被引：45

作者：

Claes, LRF

Ceulemans, B

Audenaert, D

Deprez, L

Jansen, A

Hasaerts, D

Weckx, S

Claeys, KG

Del-Favero, J

Van Broeckhoven, C

De Jonghe, P

机构：

[1] Univ Antwerp, Dept Mol Genet, B-2020 Antwerp, Belgium

[2] Univ Antwerp Hosp, Dept Neurol, Antwerp, Belgium

[3] Epilepsy Ctr Children & Youth, Pulderbos, Belgium

[4] Univ Hosp VUB, Dept Neurol, Brussels, Belgium

来源：

NEUROLOGY | 2004年 / 63卷 / 11期

关键词：

D O I：

10.1212/01.WNL.0000145629.94338.89

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Benign familial neonatal convulsions (BFNC) are characterized by unprovoked seizures during the first weeks of life with spontaneous remission after a few months. Mutations have been identified in the voltage-gated potassium ion channels KCNQ2 and KCNQ3. The authors performed a mutation analysis of KCNQ2 and KCNQ3 in six patients of whom four had no family history of neonatal seizures. The authors identified three KCNQ2 mutations in four patients that all arose de novo.

引用

页码：2155 / 2158

页数：4

共 10 条

[1] A potassium channel mutation in neonatal human epilepsy
Biervert, C
Schroeder, BC
Kubisch, C
Berkovic, SF
Propping, P
Jentsch, TJ
Steinlein, OK
[J]. SCIENCE, 1998, 279 (5349) : 403 - 406
[2] A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
Charlier, C
Singh, NA
Ryan, SG
Lewis, TB
Reus, BE
Leach, RJ
Leppert, M
[J]. NATURE GENETICS, 1998, 18 (01) : 53 - 55
[3] PLOUIN P, 2002, EPILEPTIC SYNDROMES, P3
[4] Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy
Schroeder, BC
Kubisch, C
Stein, V
Jentsch, TJ
[J]. NATURE, 1998, 396 (6712) : 687 - 690
[5] Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy
Schwake, M
Pusch, M
Kharkovets, T
Jentsch, TJ
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (18) : 13343 - 13348
[6] KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions:: expansion of the functional and mutation spectrum
Singh, NA
Westenskow, P
Charlier, C
Pappas, C
Leslie, J
Dillon, J
Anderson, VE
Sanguinetti, MC
Leppert, MF
[J]. BRAIN, 2003, 126 : 2726 - 2737
[7] A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
Singh, NA
Charlier, C
Stauffer, D
DuPont, BR
Leach, RJ
Melis, R
Ronen, GM
Bjerre, I
Quattlebaum, T
Murphy, JV
McHarg, ML
Gagnon, D
Rosales, TO
Peiffer, A
Anderson, VE
Leppert, M
[J]. NATURE GENETICS, 1998, 18 (01) : 25 - 29
[8] Smith JS, 2001, J NEUROSCI, V21, P1096
[9] A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes
Wang, SY
Cruts, M
Del-Favero, J
Zhang, Y
Tissir, F
Potier, MC
Patterson, D
Nizetic, D
Bosch, A
Chen, HM
Bennett, L
Estivill, X
Kessling, A
Antonarakis, SE
van Broeckhoven, C
[J]. GENOME RESEARCH, 1999, 9 (11) : 1059 - 1073
[10] SNPbox: web-based high-throughput primer design from gene to genome
Weckx, S
De Rijk, P
Van Broeckhoven, C
Del-Favero, J
[J]. NUCLEIC ACIDS RESEARCH, 2004, 32 : W170 - W172

← 1 →