Košík

0585854 - ÚMG 2025 RIV CH eng J - Článek v odborném periodiku
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
Institucionální podpora: RVO:68378050
Klíčová slova: k-cl cotransporter * gaba * expression * phosphorylation * mutation * neurons * server * ph * gaba * potassium-chloride co-transporter * chloride * Cl- * epilepsy * neurodevelopmental disorder
Obor OECD: Biochemistry and molecular biology
Impakt faktor: 4.8, rok: 2022
Způsob publikování: Open access
https://www.frontiersin.org/articles/10.3389/fnmol.2024.1372662/full
Trvalý link: https://hdl.handle.net/11104/0353523