Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.

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Schlingmann, Karl P; Bandulik, S; Mammen, C; Tarailo-Graovac, M; Jensen, Rikke Holm; Baumann, M; König, J; Lee, JJY; Drögemøller, B; Imminger, K; Beck, BB; Altmüller, J; Thiele, H; Waldegger, S; Van't Hoff, W; Kleta, R; Warth, R; van Karnebeek, CDM; Vilsen, Bente; Bockenhauer, Detlef; Konrad, M; (2018)
  • Publisher: Elsevier
  • Journal: issn: 0002-9297
  • Related identifiers: doi: 10.1016/j.ajhg.2018.10.004
  • Subject: ATP1A1, Na-K ATPase, α1 subunit, hypomagnesemia, seizures, intellectual disability

Over the last decades, a growing spectrum of monogenic disorders of human magnesium homeostasis has been clinically characterized, and genetic studies in affected individuals have identified important molecular components of cellular and epithelial magnesium transport. ... View more
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