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 50 条

[41] KCNQ2 MUTATIONS ARE A CAUSE OF NEONATAL EPILEPTIC ENCEPHALOPATHIES WITH A RECOGNIZABLE CLINICAL AND RADIOLOGICAL PHENOTYPE
Weckhuysen, S.
Mandelstam, S.
Suls, A.
Audenaert, D.
Deconinck, T.
Claes, L.
Deprez, L.
Smets, K.
Hristova, D.
Yordanova, I
Jordanova, A.
Ceulemans, B.
Jansen, A.
Hasaerts, D.
Roelens, F.
Lagae, L.
Yendle, S.
Stanley, T.
Heron, S.
Mulley, J.
Berkovic, S.
Scheffer, I
De Jonghe, P.
EPILEPSIA, 2011, 52 : 17 - 17
[42] Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations
Hortiguela, Montesclaros
Fernandez-Marmiesse, Ana
Cantarin, Veronica
Gouveia, Sofia
Garcia-Penas, Juan J.
Fons, Carmen
Armstrong, Judith
Barrios, Desiree
Diaz-Flores, Felicitas
Tirado, Pilar
Couce, Maria L.
Gutierrez-Solana, Luis G.
JOURNAL OF HUMAN GENETICS, 2017, 62 (02) : 185 - 189
[43] Effects of KCNQ channel openers on drug-induced seizures in knock-in mice harboring KCNQ2 mutations
Saito, Ryo
Okamatsu, Sayumi
Tomonoh, Yuko
Kiyama, Satoko
Honda, Kenji
Araki, Kimi
Deshimaru, Masanobu
Hirose, Shinichi
Takano, Yukio
JOURNAL OF PHARMACOLOGICAL SCIENCES, 2013, 121 : 190P - 190P
[44] Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions
Otto, James F.
Singh, Nanda A.
Dahle, E. Jill
Leppert, Mark F.
Pappas, Chris M.
Pruess, Timothy H.
Wilcox, Karen S.
White, H. Steve
EPILEPSIA, 2009, 50 (07) : 1752 - 1759
[45] EXPANDING THE CLINICAL, GENETIC, AND PATHOGENIC SPECTRUM OF NEONATAL EPILEPSIES ASSOCIATED WITH KCNQ2 MUTATIONS
Aharoni, S.
Goldberg-Stern, H.
Berkovic, S. F.
EPILEPSIA, 2014, 55 : 214 - 214
[46] Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation
Blumkin, Lubov
Suls, Arvid
Deconinck, Tine
De Jonghe, Peter
Linder, Ilan
Kivity, Sara
Dabby, Ron
Leshinsky-Silver, Esther
Lev, Dorit
Lerman-Sagie, Tally
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2012, 16 (04) : 356 - 360
[47] Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy
Knight, Devon
Mahida, Sonal
Kelly, Mckenna
Poduri, Annapurna
Olson, Heather E.
EPILEPSIA, 2023, 64 (07) : E143 - E147
[48] Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor
del Giudice, EM
Coppola, G
Scuccimarra, G
Cirillo, G
Bellini, G
Pascotto, A
EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (12) : 994 - 997
[49] A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family
Tang, BS
Li, HY
Xia, K
Hang, J
Pan, Q
Shen, L
Long, ZG
Zhao, GH
Cai, F
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2004, 221 (1-2) : 31 - 34
[50] Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy
Goto, Ayako
Ishii, Atsushi
Shibata, Mami
Ihara, Yukiko
Cooper, Edward C.
Hirose, Shinichi
EPILEPSIA, 2019, 60 (09) : 1870 - 1880

← 1 2 3 4 5 →