CLCN2 variants in idiopathic generalized epilepsy

被引：40

作者：

Kleefuss-Lie, Ailing ^{[1
]}

Friedl, Waltraut ^{[2
]}

Cichon, Sven ^{[3
]}

Haug, Karsten ^{[4
]}

Warnstedt, Maike ^{[5
]}

Alekov, Alexi ^{[6
]}

Sander, Thomas ^{[7
]}

Ramirez, Alfredo ^{[8
]}

Poser, Barbara ^{[9
]}

Maljevic, Snezana ^{[10
,11
]}

Hebeisen, Simon ^{[12
]}

Kubisch, Christian ^{[8
]}

Rebstock, Johannes ^{[13
]}

Horvath, Steve ^{[14
]}

Hallmann, Kerstin ^{[1
]}

Dullinger, Joern S. ^{[15
]}

Rau, Birgit ^{[1
]}

Haverkamp, Fritz ^{[16
]}

Beyenburg, Stefan ^{[17
]}

Schulz, Herbert ^{[18
]}

Janz, Dieter

Giese, Bernd ^{[19
]}

Mueller-Newen, Gerhard ^{[20
]}

Propping, Peter ^{[2
]}

Elger, Christian E. ^{[1
]}

Fahlke, Christoph ^{[6
]}

Lerche, Holger ^{[10
,11
]}

机构：

[1] Univ Bonn, Klin Epileptol, D-5300 Bonn, Germany

[2] Univ Bonn, Inst Humangenet, D-5300 Bonn, Germany

[3] Univ Bonn, Abt Genom, Life & Brain Ctr, D-5300 Bonn, Germany

[4] Pranatalmed & Genet, Dusseldorf, Germany

[5] Praxisklin, Neumarkt Inst Endokrinol & Reprod Med, Cologne, Germany

[6] Hannover Med Sch, Inst Neurophysiol, D-30623 Hannover, Germany

[7] Univ Cologne, Cologne Ctr Genom, Cologne, Germany

[8] Univ Cologne, Inst Humangenet, Cologne, Germany

[9] Rhein Westfal TH Aachen, Inst Physiol, Aachen, Germany

[10] Univ Ulm, Neurol Klin, Ulm, Germany

[11] Univ Ulm, Inst Angew Physiol, Ulm, Germany

[12] Ionchannel Co, bSys GmbH, bSys Witterswil, Witterswil, Switzerland

[13] Epilepsiezentrum Kleinwachau, Radeberg, Germany

[14] Univ Calif Los Angeles, Los Angeles, CA USA

[15] Charite, Neurol Klin & Poliklin, Campus Virchow Klinikum, D-13353 Berlin, Germany

[16] Evangel Fachhsch Rheinland Westfalen Lippe, Bochum, Germany

[17] Ctr Hosp Luxembourg, Dept Neurosci, Luxembourg, Luxembourg

[18] Max Delbruck Ctr Mol Med, Berlin, Germany

[19] Ernst Moritz Arndt Univ Greifswald, AG Angew Bioinformat & Zellbiol, Inst Mikrobiol, Greifswald, Germany

[20] Rhein Westfal TH Aachen, Univ Klinikum, Inst Biochem, Aachen, Germany

来源：

NATURE GENETICS | 2009年 / 41卷 / 09期

关键词：

CHLORIDE CHANNEL; MUTATIONS; CLC-2;

D O I：

10.1038/ng0909-954

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：954 / 955

页数：2

共 50 条

[31] Dual activation of CFTR and CLCN2 by lubiprostone in murine nasal epithelia
Schiffhauer, Eric S.
Vij, Neeraj
Kovbasnjuk, Olga
Kang, Po Wei
Walker, Doug
Lee, Seakwoo
Zeitlin, Pamela L.
AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY, 2013, 304 (05) : L324 - L331
[32] Quantification of chloride channel 2 (CLCN2) gene isoforins in normal versus lesion- and epilepsy-associated brain tissue
Bertelli, Matteo
Cecchin, Stefano
Lapucci, Cristina
de Gemmis, Paola
Danieli, Daniela
d'Amore, Emanuele S. G.
Buttolo, Luciano
Giunta, Filippo
Mortini, Pietro
Pandolfo, Massimo
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2007, 1772 (01): : 15 - 20
[33] Analysis of CLCN2 as Candidate Gene for Megalencephalic Leukoencephalopathy with Subcortical Cysts
Scheper, Gert C.
van Berkel, Carola G. M.
Leisle, Lilia
de Groot, Koen E.
Errami, Ab
Jentsch, Thomas J.
Van der Knaap, Marjo S.
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2010, 14 (02) : 255 - 257
[34] Idiopathic generalized epilepsy
Sullivan III J.E.
Dlugos D.J.
Current Treatment Options in Neurology, 2004, 6 (3) : 231 - 242
[35] A missense single nucleotide polymorphism (RS2228292, E718D) in CLCN2 associated with absence epilepsy
Everett, K
Chioza, B
Robinson, R
Rees, M
Gardiner, RM
EPILEPSIA, 2005, 46 : 93 - 93
[36] A somatic mutation in CLCN2 identified in a sporadic aldosterone-producing adenoma
Dutta, Ravi Kumar
Arnesen, Thomas
Heie, Anette
Walz, Martin
Alesina, Piero
Soderkvist, Peter
Gimm, Oliver
EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2019, 181 (05) : K37 - K41
[37] HEMIDYSTONIA IN A 28-YEAR OLD CLCN2 HOMOZYGOUS FILIPINO FEMALE
Torres, J. A. K.
Rosales, R.
PARKINSONISM & RELATED DISORDERS, 2018, 46 : E55 - E55
[38] CLCN2基因相关性白质脑病1例
刘露
戴文卓
朱夕陈
马涛
临床神经病学杂志, 2021, 34 (02) : 115+120 - 115
[39] The electroencephalogram of idiopathic generalized epilepsy
Seneviratne, Udaya
Cook, Mark
D'Souza, Wendyl
EPILEPSIA, 2012, 53 (02) : 234 - 248
[40] Imaging idiopathic generalized epilepsy
Duncan, JS
CLINICAL EEG AND NEUROSCIENCE, 2004, 35 (04) : 168 - 172

← 1 2 3 4 5 →