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Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.
Komulainen-Ebrahim J, Schreiber JM, Kangas SM, Pylkäs K, Suo-Palosaari M, Rahikkala E, Liinamaa J, Immonen EV, Hassinen I, Myllynen P, Rantala H, Hinttala R, Uusimaa J. Komulainen-Ebrahim J, et al. Among authors: immonen ev. Seizure. 2019 Jul;69:99-104. doi: 10.1016/j.seizure.2019.03.010. Epub 2019 Mar 19. Seizure. 2019. PMID: 31004928 Free article.
A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.
Järvelä V, Hamze M, Komulainen-Ebrahim J, Rahikkala E, Piispala J, Kallio M, Kangas SM, Nickl T, Huttula M, Hinttala R, Uusimaa J, Medina I, Immonen EV. Järvelä V, et al. Among authors: immonen ev. Front Mol Neurosci. 2024 Apr 10;17:1372662. doi: 10.3389/fnmol.2024.1372662. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38660387 Free PMC article.
18 results