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0585854 - ÚMG 2025 RIV CH eng J - Journal Article
Jaervelae, V. - Hamze, M. - Komulainen-Ebrahim, J. - Rahikkala, E. - Piispala, J. - Kallio, M. - Kangas, S. M. - Nickl, Tereza - Huttula, M. - Hinttala, R. - Uusimaa, J. - Medina, I. - Immonen, E.
A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.
Frontiers in Molecular Neuroscience. Roč. 17, Apr (2024), č. článku 1372662. ISSN 1662-5099. E-ISSN 1662-5099
Institutional support: RVO:68378050
Keywords : k-cl cotransporter * gaba * expression * phosphorylation * mutation * neurons * server * ph * gaba * potassium-chloride co-transporter * chloride * Cl- * epilepsy * neurodevelopmental disorder
OECD category: Biochemistry and molecular biology
Impact factor: 4.8, year: 2022
Method of publishing: Open access
https://www.frontiersin.org/articles/10.3389/fnmol.2024.1372662/full
Permanent Link: https://hdl.handle.net/11104/0353523