Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Stödberg, Tommy, McTague, Amy, Ruiz, Arnaud J., Hirata, Hiromi, Zhen, Juan, Long, Philip, Farabella, Irene, Meyer, Esther +24 more·2015·Nature Communications

DOI 10.1038/ncomms9038

Cited by (191)

Items 101–191 of 191

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Inefficient maturation of disease-linked mutant forms of the KCC2 potassium-chloride cotransporter correlates with predicted pathogenicity
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The involvement of neuronal chloride transporter deficiencies in epilepsy
Brennan J. Sullivan, Shilpa D. Kadam · 2020 · Elsevier eBooks
Post-translational modification of neuronal chloride transporters
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Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures
Michelle Hua, Mohamad‐Reza Aghanoori, Melissa J MacPherson, Yi Ren, Yifan Yang, Yan Yan Or, Laura Williams, Christopher J. Gafuik, Chloé Quēlin, Boris Keren et al. · 2025 · medRxiv
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Morgan Kok, Jeffrey L. Brodsky · 2024 · Critical Reviews in Biochemistry and Molecular Biology
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Katsuhiro Kobayashi, Takashi Shibata, Hiroki Tsuchiya, Mari Akiyama, Tomoyuki Akiyama · 2025 · Brain and Development
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Jules C. Beal, Monika Eisermann, Sunita N. Misra, Phillip Lawrence Pearl, P. Plouin, Eli M. Mizrahi, Solomon L. Moshé · 2017
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Rosane Souza da Silva, Mônica Ryff Moreira Roca Vianna, Carla Denise Bonan · 2020 · Elsevier eBooks
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Heather A. O’Malley, Lori L. Isom · 2020 · Elsevier eBooks
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Ayberk Türkyılmaz, Safiye Güneş Sağer, Emine Tekin, Kerem Teralı, Hanife Gülden Düzkalır, Metin Eser, Yasemin Akın · 2024 · Neurogenetics
KCC2 inhibition and neuronal hyperexcitability promote extrinsic apoptosis dependent upon C1q
Jinglin Ji, Catherine Choi, Christopher E. Bope, Jacob S. Dengler, Stephen J. Moss, Joshua L. Smalley · 2025 · Frontiers in Molecular Neuroscience
Regulated degradation of KCC2, a potassium-chloride co-transporter required for synaptic transmission and neurodevelopment
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Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2 ‐developmental and epileptic encephalopathy
Mira Hamze, Robyn Whitney, Dorothee M. Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie Isoline Pisella et al. · 2026 · Epilepsia
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Gaëtan Lesca · 2018 · EMC - Neurologia
SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures
Amy McTague, Manju A. Kurian · 2019
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Knut Kirmse, Knut Holthoff · 2020 · Elsevier eBooks
Expression, Function, and Regulation of the K-Cl Cotransporter KCC2 isoforms in the Central Nervous System
Marika A Markkanen · 2018 · Työväentutkimus Vuosikirja
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TGF-β2 regulates neuronal Ankyrin-G and promotes its interaction with KCC2
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Yuan Xie, Binming Han, Xin Tao, Fangjun Song, Cheng Zhao, Eric J. Delpire, Jingyuan Li, Shan Wu, Jiangtao Guo · 2025 · Biophysics Reports
Highly conserved ion binding sites are not all functionally relevant in mouse KCC4
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Additional file 3 of Spatiotemporal expression patterns of genes coding for plasmalemmal chloride transporters and channels in neurological diseases
Huang, Yanruo, Qihang Wang, Peng, Yunsong, wenjie du, Wang, Qi, Jiangtao Qi, Zijian Hao, Wang, Yingwei · 2024 · Figshare
Additional file 9 of Spatiotemporal expression patterns of genes coding for plasmalemmal chloride transporters and channels in neurological diseases
Huang, Yanruo, Qihang Wang, Peng, Yunsong, wenjie du, Wang, Qi, Jiangtao Qi, Zijian Hao, Wang, Yingwei · 2024 · Figshare
Additional file 2 of Spatiotemporal expression patterns of genes coding for plasmalemmal chloride transporters and channels in neurological diseases
Yanruo Huang, Qihang Wang, Peng, Yunsong, wenjie du, Wang, Qi, Jiangtao Qi, Zijian Hao, Wang, Yingwei · 2024 · Figshare
Additional file 5 of Spatiotemporal expression patterns of genes coding for plasmalemmal chloride transporters and channels in neurological diseases
Huang, Yanruo, Qihang Wang, Peng, Yunsong, wenjie du, Wang, Qi, Jiangtao Qi, Zijian Hao, Wang, Yingwei · 2024 · Figshare
Additional file 10 of Spatiotemporal expression patterns of genes coding for plasmalemmal chloride transporters and channels in neurological diseases
Huang, Yanruo, Qihang Wang, Peng, Yunsong, wenjie du, Wang, Qi, Jiangtao Qi, Zijian Hao, Wang, Yingwei · 2024 · Figshare
Additional file 7 of Spatiotemporal expression patterns of genes coding for plasmalemmal chloride transporters and channels in neurological diseases
Huang, Yanruo, Qihang Wang, Peng, Yunsong, Du, Wenjie, Wang, Qi, Jiangtao Qi, Zijian Hao, Wang, Yingwei · 2024 · Figshare
Additional file 6 of Spatiotemporal expression patterns of genes coding for plasmalemmal chloride transporters and channels in neurological diseases
Huang, Yanruo, Qihang Wang, Peng, Yunsong, wenjie du, Wang, Qi, Jiangtao Qi, Zijian Hao, Wang, Yingwei · 2024 · Figshare
Additional file 1 of Spatiotemporal expression patterns of genes coding for plasmalemmal chloride transporters and channels in neurological diseases
Huang, Yanruo, Qihang Wang, Peng, Yunsong, wenjie du, Wang, Qi, Jiangtao Qi, Zijian Hao, Wang, Yingwei · 2024 · Figshare
Additional file 8 of Spatiotemporal expression patterns of genes coding for plasmalemmal chloride transporters and channels in neurological diseases
Huang, Yanruo, Qihang Wang, Peng, Yunsong, wenjie du, Wang, Qi, Jiangtao Qi, Zijian Hao, Wang, Yingwei · 2024 · Figshare
Additional file 4 of Spatiotemporal expression patterns of genes coding for plasmalemmal chloride transporters and channels in neurological diseases
Huang, Yanruo, Qihang Wang, Peng, Yunsong, wenjie du, Wang, Qi, Jiangtao Qi, Zijian Hao, Wang, Yingwei · 2024 · Figshare
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