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

Schlingmann, Karl P. ; Bandulik, Sascha ; Mammen, Cherry ; Tarailo-Graovac, Maja ; Holm, Rikke ; Baumann, Matthias ; König, Jens ; Lee, Jessica J. Y. ; Drögemöller, Britt ; Imminger, Katrin ; Beck, Bodo B. ; Altmüller, Janine ; Thiele, Holger ; Waldegger, Siegfried ; van’t Hoff, William ; Kleta, Robert ; Warth, Richard ; van Karnebeek, Clara D. M. ; Vilsen, Bente ; Bockenhauer, Detlef ; Konrad, Martin



Abstract

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. Here, we describe three infants who are from non-consanguineous families and who presented with a disease phenotype consisting of ...

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