Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations

被引：15
|
作者：
Zeydan, Burcu [1 ,2 ]
Uygunoglu, Ugur [1 ]
Altintas, Ayse [1 ]
Saip, Sabahattin [1 ]
Siva, Aksel [1 ]
Abbink, Truus E. M. [3 ]
van der Knaap, Marjo S. [3 ]
Yalcinkaya, Cengiz [1 ]
机构：
[1] Istanbul Univ, Cerrahpasa Sch Med, Dept Neurol, TR-34098 Istanbul, Turkey
[2] Mayo Clin, Coll Med, Dept Radiol, Rochester, MN USA
[3] Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, Amsterdam, Netherlands
来源：
EUROPEAN NEUROLOGY | 2017年 / 78卷 / 3-4期
关键词：
DISRUPTION; CLC-2;
D O I：
10.1159/000478089
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：125 / 127
页数：3
相关论文
共 50 条
  • [41] Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation
    Hanagasi, Hasmet A.
    Bilgic, Basar
    Abbink, Truus E. M.
    Hanagasi, Figen
    Tufekcioglu, Zeynep
    Gurvit, Hakan
    Basak, Nazli
    van der Knaap, Marjo S.
    Emre, Murat
    PARKINSONISM & RELATED DISORDERS, 2015, 21 (05) : 544 - 546
  • [42] Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation
    Hanagasi, H. A.
    Bilgic, B.
    Abbink, T. E. M.
    Hanagasi, F.
    Tufekcioglu, Z.
    Gurvit, H.
    Basak, N.
    van der Knaap, M. S.
    Emre, M.
    MOVEMENT DISORDERS, 2015, 30 : S453 - S453
  • [43] 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
  • [44] Alterations in the cytoplasmic domain of CLCN2 result in altered Gating kinetics
    Paul, Jochen
    Jeyaraj, Sankarganesh
    Huber, Stephan M.
    Seebohm, Guiscard
    Boehmer, Christoph
    Lang, Florian
    Kremsner, Peter G.
    Kun, Juergen F. J.
    CELLULAR PHYSIOLOGY AND BIOCHEMISTRY, 2007, 20 (05) : 441 - 454
  • [45] De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence
    Xie, Han
    Su, Wenting
    Pei, Jinrui
    Zhang, Yujia
    Gao, Kai
    Li, Jinliang
    Ma, Xiuwei
    Zhang, Yuehua
    Wu, Xiru
    Jiang, Yuwu
    EPILEPSY RESEARCH, 2019, 154 : 55 - 61
  • [46] Photoreceptor Degeneration, Azoospermia, Leukoencephalopathy, and Abnormal RPE Cell Function in Mice Expressing an Early Stop Mutation in CLCN2
    Edwards, Malia M.
    de Evsikova, Caralina Marin
    Collin, Gayle B.
    Gifford, Elaine
    Wu, Jiang
    Hicks, Wanda L.
    Whiting, Carrie
    Varvel, Nicholas H.
    Maphis, Nicole
    Lamb, Bruce T.
    Naggert, Juergen K.
    Nishina, Patsy M.
    Peachey, Neal S.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (06) : 3264 - 3272
  • [47] 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
  • [48] Mutations of CLCN2, encoding a voltage-gated chloride channel, causing common forms of epilepsy.
    Haug, K
    Ramirez, A
    Sander, T
    Niemeyer, MI
    Kubisch, C
    Rebstock, J
    Horvath, S
    Hallmann, K
    Dullinger, JS
    Rau, B
    Haverkamp, F
    Beyenburg, S
    Schulz, H
    Sepulveda, SV
    Janz, D
    Elger, CE
    Propping, P
    Cid, LP
    Heils, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 226 - 226
  • [49] HEMIDYSTONIA IN A 28-YEAR OLD CLCN2 HOMOZYGOUS FILIPINO FEMALE
    Torres, J. A. K.
    Rosales, R.
    PARKINSONISM & RELATED DISORDERS, 2018, 46 : E55 - E55
  • [50] Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function
    Xu, Ping
    Chen, Zhuolin
    Ma, Jianchi
    Shan, Yongli
    Wang, Yuan
    Xie, Bingbing
    Zheng, Dandan
    Guo, Fuying
    Song, Xiaojing
    Gao, Guanjie
    Ye, Ke
    Liu, Yizhi
    Pan, Guangjin
    Jiang, Bin
    Peng, Fuhua
    Zhong, Xiufeng
    HUMAN GENETICS, 2023, 142 (04) : 577 - 593
12345