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A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.
Järvelä, Viivi; Hamze, Mira; Komulainen-Ebrahim, Jonna; Rahikkala, Elisa; Piispala, Johanna; Kallio, Mika; Kangas, Salla M; Nickl, Tereza; Huttula, Marko; Hinttala, Reetta; Uusimaa, Johanna; Medina, Igor; Immonen, Esa-Ville.
Affiliation
  • Järvelä V; Nano and Molecular Systems Research Unit, University of Oulu, Oulu, Finland.
  • Hamze M; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland.
  • Komulainen-Ebrahim J; Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland.
  • Rahikkala E; INMED, INSERM, Aix-Marseille University, Marseille, France.
  • Piispala J; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland.
  • Kallio M; Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland.
  • Kangas SM; Department of Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, Oulu, Finland.
  • Nickl T; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland.
  • Huttula M; Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland.
  • Hinttala R; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland.
  • Uusimaa J; Department of Clinical Neurophysiology, Oulu University Hospital, Oulu, Finland.
  • Medina I; Department of Clinical Neurophysiology, Oulu University Hospital, Oulu, Finland.
  • Immonen EV; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland.
Front Mol Neurosci ; 17: 1372662, 2024.
Article de En | MEDLINE | ID: mdl-38660387
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Langue: En Journal: Front Mol Neurosci Année: 2024 Type de document: Article Pays d'affiliation: Finlande Pays de publication: Suisse
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Langue: En Journal: Front Mol Neurosci Année: 2024 Type de document: Article Pays d'affiliation: Finlande Pays de publication: Suisse